Intellectual disability syndromic and non-syndromic (Version 2.0)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Intellectual disability, HP:0001249; Neurodevelopmental delay, HP:0012758
Panel types: Victorian Clinical Genetics Services, Genetic Health Queensland, Royal Melbourne Hospital, Rare Disease

Description

This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.

This is a consensus panel used by VCGS, GHQ and RMH.

This panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.

Panel Activity

118 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Elizabeth Palmer (University of New South Wales)
Belinda Chong (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Abhijit Kulkarni (Monash Genetics)
Alison Yeung (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Andrew Fennell (Monash Genetics)
Vivian WEI (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Kaitlyn Dianna Weldon (University of Melbourne)
Anna Le Fevre (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Mark Williams (Other)
Laura Raiti (Royal Children's Hospital, Melbourne)
Arina Puzriakova (Genomics England)
Danielle Ariti (University of Melbourne)
Lorraine Skalicka (Genomic Diagnostics, Healius)
Shannon Nicolson (University of Melbourne Centre for Cancer Research)
Manny Jacobs (Victorian Clinical Genetics Services)
Savige Judy (University of Melbourne)
Christa Whelan (Genomic Diagnostics)
Mitchell O'Brien (CSIRO)
Renee Crooks (Other)
Lloyd Pereira (Peter MacCallum Cancer Centre)
Philip Adam Harraka (University of Melbourne)
Nicolle Hua (University of Melbourne)
Nicholas Clark (Other)
Sindhu V (Other)
Liyan Song (Monash Health)
Layla Zhu (Melbourne University, Centre for Cancer Research)
Michelle Dang (University of Melbourne)
Jacqueline Montgomery (University of Melbourne)
Lyndon Gallacher (Victorian Clinical Genetics Services)
Ben Lundie (Queensland Pathology)
Jessica Wright (Genomic Diagnostics, Healius)
Ken Lee Wan (Monash Health)
Mark Cleghorn (Royal Melbourne Hospital)
Caleb Cartagena (Monash University)
Sarah Leigh (Genomics England)
Rylee Peters (Victorian Clinical Genetics Services)
Gemma O'Farrell (Victorian Clinical Genetics Services)
Katie Thompson (Other)
Ibrahim El-Deek (Other)
Cara Beck (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
David Fairbairn (Other)
Yetong Chen (University of Melbourne)
Yixin JIANG (University of Melbourne)
Lovepreet Gill (Other)
Rajkumar Krishnaswamy (Other)
Aaron Meyers (University of Melbourne)
Suliman Khan (Victorian Clinical Genetics Services)
Amy Chiang (Other)
Hazel Phillimore (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Achchuthan Shanmugasundram (Genomics England)
Teresa Zhao (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Lilian Downie (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Claire Fryer-Smith (University of Melbourne)
Hali Van Niel (University of Melbourne)
James The (Monash University)
Adam Ivey (The Alfred Hospital)
sabitha sateesh (Other)
Gunjan Garg (Other)
Ee Ming Wong (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Chris Ciotta (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Tinashe Nhindiri (Other)
Alyson Lewis (Other)
Laura Mazurkijevic (Other)
Hnin Aung (Other)
Raluca Rusu (Other)
Leanne Baxter (Other)
Shani Stuart (Other)
Kirsty Choi (University of Melbourne)
Santosh Varughese (University of Melbourne)
Reetoo Ramessur (Other)
Jane Lin (The Alfred Hospital)
Sumudu Perera (Royal Melbourne Hospital)
Tashunka Taylor-Miller (Victorian Clinical Genetics Services)
Andrew Coventry (Victorian Clinical Genetics Services)
Kushani Jayasinghe (Monash Medical Centre)
Megan Ball (Murdoch Children's Research Institute)
Belinda Chong (Victorian Clinical Genetics Services)
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)
Deepak Subramanian (Canterbury Health Laboratories)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Monica Petica (Other)
Karina Sandoval (Victorian Clinical Genetics Services)
Ava Stevenson (Victorian Clinical Genetics Services)
Gemma Edwards (Other)
May Tun Hla Maw (Monash Genetics)
Fahaz Nazer (VIctorian Clinical Genetics Services)
Thomas Cloney (VIctorian Clinical Genetics Services)
Freeman A (Other)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

2610 Entities

2610 reviewed, 1882 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2610 Entitiess
Green Green List (high evidence)	AAAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Achalasia-addisonianism-alacrimia syndrome, MIM#231550 Tags
Green Green List (high evidence)	AARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 29, MIM# 616339 Tags
Green Green List (high evidence)	ABAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations GABA-transaminase deficiency, MIM#613163 Tags
Green Green List (high evidence)	ABCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808 Tags
Green Green List (high evidence)	ABCC9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability and myopathy syndrome, MIM# 619719 Hypertrichotic osteochondrodysplasia, MIM# 239850 Cantu syndrome Tags
Green Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Adrenoleukodystrophy, MIM# 300100 Tags
Green Green List (high evidence)	ABCD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Methylmalonic aciduria and homocystinuria, cblJ type, MIM# 614857 Tags
Green Green List (high evidence)	ABHD16A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 86, autosomal recessive, MIM# 619735 Intellectual Disability Corpus callosum abnormalities Tags
Green Green List (high evidence)	ABHD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Chanarin-Dorfman syndrome MIM#275630 neutral lipid storage disease with ichthyosis non-bullous congenital ichthyosiform erythroderma Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 20 MIM#611126 Tags treatable
Green Green List (high evidence)	ACADM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Tags treatable
Green Green List (high evidence)	ACBD6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green Green List (high evidence)	ACO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Green Green List (high evidence)	ACSL4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked 63, MIM# 300387 XLD Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Baraitser-Winter syndrome 1, MIM# 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 ACTB-related neurodevelopment disorder Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Baraitser-Winter syndrome 2, MIM#614583 Tags
Green Green List (high evidence)	ACTL6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related Tags
Green Green List (high evidence)	ACTL6B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 76, MIM# 618468 Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470 Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aminoacylase 1 deficiency, MIM# 609924 Tags
Green Green List (high evidence)	ADAM22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Developmental and epileptic encephalopathy 61 (MIM#617933) Tags
Green Green List (high evidence)	ADAMTS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Green Green List (high evidence)	ADAR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ADARB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Intellectual disability microcephaly seizures Tags
Green Green List (high evidence)	ADAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 36, MIM#615286 Tags
Green Green List (high evidence)	ADD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Polymicrogyria, bilateral frontoparietal, MIM# 606854 Tags 5'UTR
Green Green List (high evidence)	ADGRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, MIM# 620065 Tags
Green Green List (high evidence)	ADK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 Tags
Green Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Helsmoortel-van der Aa syndrome MIM#615873 MONDO:0014379 Tags
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Adenylosuccinase deficiency, MIM# 103050 Tags
Green Green List (high evidence)	AFF2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability, X-linked, FRAXE type 309548 Tags
Green Green List (high evidence)	AFF2_FRAXE_GCC STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Fragile X syndrome, FRAXE type (OMIM 309548) Tags STR
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AFF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations CHOPS syndrome, MIM#616368 MONDO:0014609 Tags
Green Green List (high evidence)	AFG2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Tags new gene name
Green Green List (high evidence)	AFG2B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616 Tags
Green Green List (high evidence)	AGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aspartylglucosaminuria, MIM#208400 Tags
Green Green List (high evidence)	AGMO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, AGMO-related Tags
Green Green List (high evidence)	AGO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292 Tags
Green Green List (high evidence)	AGO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Lessel-Kreienkamp syndrome (LESKRES), MIM#619149 Intellectual disability Tags
Green Green List (high evidence)	AGTPBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650 Tags
Green Green List (high evidence)	AHCY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 Tags treatable
Green Green List (high evidence)	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Xia-Gibbs syndrome, MIM# 615829 AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358 Tags
Green Green List (high evidence)	AHI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert Syndrome 3 OMIM #608629 Tags
Green Green List (high evidence)	AIFM1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Green Green List (high evidence)	AIMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability Leukodystrophy, hypomyelinating, 3, MIM# 260600 Tags
Green Green List (high evidence)	AIRIM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, C1orf109-related Tags
Green Green List (high evidence)	AJAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, MONDO:0700092, AJAP1-related Tags
Green Green List (high evidence)	AKT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Tags
Green Green List (high evidence)	ALDH3A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Sjogren-Larsson syndrome MIM#270200 spasticity ichthyosis intellectual disability Tags
Green Green List (high evidence)	ALDH4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperprolinemia, type II MIM#239510 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epilepsy, pyridoxine-dependent, MIM# 266100 Tags treatable
Green Green List (high evidence)	ALG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ik, MIM# 608540 Tags
Green Green List (high evidence)	ALG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ip, MIM# 613661 Tags
Green Green List (high evidence)	ALG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ig, MIM# 607143 Tags
Green Green List (high evidence)	ALG13	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Is (MIM# 300884) Tags
Green Green List (high evidence)	ALG14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031 Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036 Tags
Green Green List (high evidence)	ALG2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228 Congenital disorder of glycosylation, type Ii, MIM# 607906 Tags
Green Green List (high evidence)	ALG3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Green Green List (high evidence)	ALG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Green Green List (high evidence)	ALG8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Green Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Il, MIM#608776 Tags
Green Green List (high evidence)	ALKBH8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 71, MIM#618504 Tags
Green Green List (high evidence)	ALMS1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Alstrom syndrome, MIM# 203800 Tags
Green Green List (high evidence)	AMER1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Osteopathia striata with cranial sclerosis, OMIM:300373 Tags
Green Green List (high evidence)	AMOTL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Craniofaciocardiohepatic syndrome, MIM# 621192 Tags
Green Green List (high evidence)	AMPD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 9, MIM#615809 Tags
Green Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glycine encephalopathy MIM#605899 Tags
Green Green List (high evidence)	ANK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	ANK3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive, 37 615493 Intellectual disability, autosomal dominant Tags
Green Green List (high evidence)	ANKRD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations KBG syndrome, MIM # 148050 Tags
Green Green List (high evidence)	ANKRD17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Disease associations Chopra-Amiel-Gordan syndrome, MIM# 619504 Intellectual disability dysmorphic features Tags
Green Green List (high evidence)	ANKS1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092 ANKS1B related Tags SV/CNV
Green Green List (high evidence)	ANO4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, ANO4-related Tags
Green Green List (high evidence)	AP1B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual disability enteropathy deafness ichthyosis keratoderma Tags
Green Green List (high evidence)	AP1G1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Usmani-Riazuddin syndrome, autosomal dominant, MIM# 619467 Usmani-Riazuddin syndrome, autosomal recessive, MIM# 619548 Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green Green List (high evidence)	AP1S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations MEDNIK syndrome, MIM# 609313 Tags
Green Green List (high evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	AP2M1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder 60 with seizures, MIM# 618587 Tags
Green Green List (high evidence)	AP2S1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, AP2S1-related Tags
Green Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags clinical trial treatable
Green Green List (high evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Tags
Green Green List (high evidence)	AP4B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Green Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 51, autosomal recessive, MIM# 613744 Tags
Green Green List (high evidence)	AP4M1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Green Green List (high evidence)	AP4S1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 52, autosomal recessive, MIM# 614067 Tags
Green Green List (high evidence)	APC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations 10, MIM#618677 Tags
Green Green List (high evidence)	ARCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164) Tags
Green Green List (high evidence)	ARF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Periventricular nodular heterotopia 8, MIM# 618185 Tags
Green Green List (high evidence)	ARF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), ARF3-related Global developmental delay Intellectual disability Seizures Morphological abnormality of the central nervous system Tags
Green Green List (high evidence)	ARFGEF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964 Tags
Green Green List (high evidence)	ARFGEF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Periventricular heterotopia with microcephaly (MIM#608097) Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Argininaemia MIM#207800 Tags treatable
Green Green List (high evidence)	ARHGAP35	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, ARHGAP35-related MONDO#0700092 Tags
Green Green List (high evidence)	ARHGEF9	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 8, MIM# 300607 Tags
Green Green List (high evidence)	ARID1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Siris syndrome 2 (MIM#614607) Tags
Green Green List (high evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Siris syndrome 1, MIM 135900 Tags
Green Green List (high evidence)	ARID2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Siris syndrome 6, MIM# 617808 Tags
Green Green List (high evidence)	ARL13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ARMC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 30, MIM# 617622 Tags
Green Green List (high evidence)	ARPC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, language impairment, and ocular abnormalities, MIM# 620141 Tags
Green Green List (high evidence)	ARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Metachromatic leukodystrophy, MIM# 250100 Tags clinical trial treatable
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 MONDO:0009661 Tags clinical trial treatable
Green Green List (high evidence)	ARSL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Chondrodysplasia punctata, X-linked recessive, MIM# 302950 Tags new gene name
Green Green List (high evidence)	ARV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 38, MIM# 617020 Tags
Green Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Lissencephaly, X-linked 2, MIM# 300215 Tags
Green Green List (high evidence)	ARX_EIEE1_GCN1 STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags
Green Green List (high evidence)	ARX_EIEE1_GCN2 STR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Developmental and epileptic encephalopathy 1 MIM#308350 Intellectual disability, X-linked 29 and others MIM#300419 Partington syndrome MIM#309510 Tags
Green Green List (high evidence)	ASAH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Farber lipogranulomatosis MIM #228000 Tags
Green Green List (high evidence)	ASCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Tags
Green Green List (high evidence)	ASH1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Mental retardation, autosomal dominant 52, MIM#617796 Tags
Green Green List (high evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Argininosuccinic aciduria, MIM#207900 Tags treatable
Green Green List (high evidence)	ASNS	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Disease associations Asparagine synthetase deficiency, MIM#615574 Tags
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Canavan disease MIM#271900 Tags
Green Green List (high evidence)	ASPM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 5, primary, autosomal recessive, MIM#608716 Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Citrullinemia MIM#215700 Tags treatable
Green Green List (high evidence)	ASTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Bohring-Opitz syndrome , MIM#605039 Tags
Green Green List (high evidence)	ASXL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Shashi-Pena syndrome, MIM# 617190 Tags
Green Green List (high evidence)	ASXL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Bainbridge-Ropers syndrome (OMIM # 615485) Tags
Green Green List (high evidence)	ATAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hyperekplexia 4, MIM#618011 Tags
Green Green List (high evidence)	ATAD3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810 Tags SV/CNV
Green Green List (high evidence)	ATG12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations ATG12-related neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	ATG4D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ATG4D-related Tags
Green Green List (high evidence)	ATG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green Green List (high evidence)	ATIC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations AICA-ribosiduria due to ATIC deficiency, MIM# 608688 Tags
Green Green List (high evidence)	ATN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, MIM#618494 Tags
Green Green List (high evidence)	ATP1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability seizures hypomagnesaemia Tags
Green Green List (high evidence)	ATP1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Alternating hemiplegia of childhood 1, MIM# 104290 Developmental and epileptic encephalopathy 98, MIM# 619605 Tags
Green Green List (high evidence)	ATP1A3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP2B1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal dominant 66, MIM# 619910 Tags
Green Green List (high evidence)	ATP2B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green Green List (high evidence)	ATP2B3	2 reviews 1 green 1 red	Unknown	Sources Expert Review Green GeneReviews Genetic Health Queensland Royal Melbourne Hospital Disease associations Spinocerebellar ataxia, X-linked 1, MIM#302500 Tags
Green Green List (high evidence)	ATP5F1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD Tags new gene name
Green Green List (high evidence)	ATP5PO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags new gene name
Green Green List (high evidence)	ATP6AP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Immunodeficiency 47, MIM#300972 Tags
Green Green List (high evidence)	ATP6AP2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Tags
Green Green List (high evidence)	ATP6V0A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green Green List (high evidence)	ATP6V0A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Green Green List (high evidence)	ATP6V0C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green Green List (high evidence)	ATP6V1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, infantile or early childhood, 3 618012 Cutis laxa, autosomal recessive, type IID 617403 Tags
Green Green List (high evidence)	ATP6V1B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Zimmermann-Laband syndrome 2, MIM# 616455 Tags
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Menkes disease MIM#309400 Tags treatable
Green Green List (high evidence)	ATP8A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Tags
Green Green List (high evidence)	ATP9A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Tags
Green Green List (high evidence)	ATR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Seckel syndrome 1, MIM# 210600 Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	ATXN7L3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Harel-Tora neurodevelopmental syndrome, MIM# 621377 Tags
Green Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Green Green List (high evidence)	AUTS2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Green Green List (high evidence)	AXIN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558 Tags
Green Green List (high evidence)	B3GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181 MONDO:0014071 Tags
Green Green List (high evidence)	B3GLCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peters Plus Syndrome (MIM 261540) Peters anomaly Growth retardation Brachydactyly ID Tags
Green Green List (high evidence)	B4GALNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 26, autosomal recessive (MIM #609195) Tags
Green Green List (high evidence)	B4GALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Iid, MIM#607091 Tags
Green Green List (high evidence)	B4GALT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags
Green Green List (high evidence)	B9D1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ciliopathy, MONDO:0005308, B9D1-related Tags
Green Green List (high evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 34, MIM#614175 Meckel syndrome 10, MIM#614175 Tags
Green Green List (high evidence)	BAIAP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 120, MIM# 621468 Tags
Green Green List (high evidence)	BAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Kury-Isidor syndrome , MIM#619762 Tags
Green Green List (high evidence)	BBIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 18, MIM#615995 Tags
Green Green List (high evidence)	BBS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 10 MONDO:0014438 Tags
Green Green List (high evidence)	BBS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 12 MONDO:0014440 Tags
Green Green List (high evidence)	BBS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 2 MONDO:0014432 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green Green List (high evidence)	BCAP31	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCAS3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hengel-Maroofian-Schols syndrome, MIM# 619641 Tags
Green Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations maple syrup urine disease type 1A MONDO:0023691 Tags treatable
Green Green List (high evidence)	BCKDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations maple syrup urine disease type 1B MONDO:0023692 Tags treatable
Green Green List (high evidence)	BCKDK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923 Tags treatable
Green Green List (high evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Dias-Logan syndrome, MIM# 617101 Tags
Green Green List (high evidence)	BCL11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092 Tags
Green Green List (high evidence)	BCOR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia Tags
Green Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bjornstad syndrome MONDO:0009872 Tags
Green Green List (high evidence)	BHLHE22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related Tags
Green Green List (high evidence)	BICRA	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Coffin-Siris syndrome-12, MIM#619325 Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features Tags
Green Green List (high evidence)	BLOC1S1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related Tags
Green Green List (high evidence)	BLTP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Alkuraya-Kucinskas syndrome, MIM# 617822 Tags
Green Green List (high evidence)	BMAL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BMAL1-related Tags new gene name
Green Green List (high evidence)	BMP4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia, syndromic 6, MIM# 607932 Tags
Green Green List (high evidence)	BOLA3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299) Tags
Green Green List (high evidence)	BORCS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lysosomal storage disease, MONDO:0002561, BORCS5-related Tags
Green Green List (high evidence)	BORCS8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Tags
Green Green List (high evidence)	BPTF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies AD, MIM#617755 Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cardiofaciocutaneous syndrome (MIM# 115150) Noonan syndrome (MIM# 613706) LEOPARD syndrome (MIM# 613707) Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	BRD4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cornelia de Lange syndrome Tags
Green Green List (high evidence)	BRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebellofaciodental syndrome, MIM# 616202 Tags
Green Green List (high evidence)	BRF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Syndromic disease, MONDO:0002254, BRF2-related Tags
Green Green List (high evidence)	BRPF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 MONDO:0015022 Tags
Green Green List (high evidence)	BRSK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BRSK1-related Tags
Green Green List (high evidence)	BRSK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BRSK2-related Tags
Green Green List (high evidence)	BRWD3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 93, MIM # 300659 Tags
Green Green List (high evidence)	BSCL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations congenital generalized lipodystrophy type 2 MONDO:0010020 Tags
Green Green List (high evidence)	BSN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder (MONDO:0700092), BSN-related Tags
Green Green List (high evidence)	BSND	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bartter syndrome, type 4a, MIM#602522 Tags
Green Green List (high evidence)	BTD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations biotinidase deficiency MONDO:0009665 Tags treatable
Green Green List (high evidence)	BUB1B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Tags
Green Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Temtamy syndrome MIM#218340 Tags
Green Green List (high evidence)	C2CD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Orofaciodigital syndrome XIV, MIM# 615948 Tags
Green Green List (high evidence)	C2orf69	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags
Green Green List (high evidence)	CA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 Tags
Green Green List (high evidence)	CACHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations syndromic complex neurodevelopmental disorder MONDO:0800439 Tags
Green Green List (high evidence)	CACNA1A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Epilepsy Flagship Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations developmental and epileptic encephalopathy, 42 MONDO:0014917 Tags
Green Green List (high evidence)	CACNA1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497 Tags
Green Green List (high evidence)	CACNA1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures, MIM# 620029 Tags
Green Green List (high evidence)	CACNA1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 intellectual disability autism epilepsy Tags
Green Green List (high evidence)	CACNA1E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green Green List (high evidence)	CACNA1G	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 Tags
Green Green List (high evidence)	CACNA1I	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Tags
Green Green List (high evidence)	CACNA2D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebellar atrophy with seizures and variable developmental delay, MIM#618501 Tags
Green Green List (high evidence)	CAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457 Tags
Green Green List (high evidence)	CAMK2A	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 63 MIM#618095 Mental retardation, autosomal dominant 53 MIM#617798 Tags
Green Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 54, MIM# 617799 Tags
Green Green List (high evidence)	CAMK2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Green Green List (high evidence)	CAMK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Other Disease associations Global developmental delay Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags
Green Green List (high evidence)	CAMSAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Tags
Green Green List (high evidence)	CAMTA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD) Tags SV/CNV
Green Green List (high evidence)	CAPN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 Tags
Green Green List (high evidence)	CAPRIN1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782 Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Tags
Green Green List (high evidence)	CAPZA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CAPZA2-related Tags
Green Green List (high evidence)	CARS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual disability microcephaly brittle hair and nails Tags new gene name
Green Green List (high evidence)	CARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 27, MIM#616672 Tags
Green Green List (high evidence)	CASK	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations FG syndrome 4 MIM#300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Intellectual disability, with or without nystagmus MIM#300422 Tags
Green Green List (high evidence)	CASP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653 Tags
Green Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations CBL-related disorder MONDO:0013308 Tags
Green Green List (high evidence)	CBS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Homocystinuria (MIM# 236200) Tags treatable
Green Green List (high evidence)	CBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder (MONDO#0700092), CBX1-related Tags
Green Green List (high evidence)	CBY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags
Green Green List (high evidence)	CC2D1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Autosomal recessive mental retardation, (MIM#608443) Tags
Green Green List (high evidence)	CC2D2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations COACH syndrome 2, MIM# 619111 Joubert syndrome 9, MIM#612285 Meckel syndrome 6, MIM#612284 Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia Tags
Green Green List (high evidence)	CCDC186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CCDC186-related Tags
Green Green List (high evidence)	CCDC22	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Ritscher-Schinzel syndrome 2, MIM# 300963 Tags
Green Green List (high evidence)	CCDC47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Trichohepatoneurodevelopmental syndrome, 618268 Tags
Green Green List (high evidence)	CCDC82	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CCDC82-related Tags
Green Green List (high evidence)	CCDC88A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations PEHO syndrome-like, MIM# 617507 Tags
Green Green List (high evidence)	CCDC88C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR Tags
Green Green List (high evidence)	CCND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938 Neurodevelopmental disorder, CCND2-related MONDO: 0700092 Microcephaly, MONDO: 0001149 Tags
Green Green List (high evidence)	CCNK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome MONDO:0035775 Tags
Green Green List (high evidence)	CCT3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, CCT3-related Tags
Green Green List (high evidence)	CCT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, CCT6A-related Tags
Green Green List (high evidence)	CDC42	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Takenouchi-Kosaki syndrome, MIM#616737 Tags
Green Green List (high evidence)	CDC42BPB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Chilton-Okur-Chung neurodevelopmental syndrome, MIM# 619841 Tags
Green Green List (high evidence)	CDH11	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Elsahy-Waters syndrome, MIM# 211380 Teebi hypertelorism syndrome Tags
Green Green List (high evidence)	CDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability corpus callosum abnormalities congenital abnormalities Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929 Tags
Green Green List (high evidence)	CDK10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Al Kaissi syndrome MIM#617694 Tags
Green Green List (high evidence)	CDK13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 Tags
Green Green List (high evidence)	CDK16	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder (MONDO#0700092) CDK16-related Tags
Green Green List (high evidence)	CDK19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability epileptic encephalopathy Epileptic encephalopathy, early infantile, 87, MIM# 618916 Tags
Green Green List (high evidence)	CDK4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Microcephaly 31, primary, autosomal recessive, MIM# 621507 Tags
Green Green List (high evidence)	CDK5RAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488 Tags
Green Green List (high evidence)	CDK6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 12, primary, autosomal recessive, MONDO:0014484 Tags
Green Green List (high evidence)	CDK8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability dysmorphism congenital abnormalities seizures Tags
Green Green List (high evidence)	CDKL5	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Green Green List (high evidence)	CDON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations holoprosencephaly 11 MONDO:0013642 Tags
Green Green List (high evidence)	CECR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CECR2-related neural tube defects, susceptibility to MONDO:0020705, CECR2-related Tags
Green Green List (high evidence)	CELF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 97, MIM#619561 Tags
Green Green List (high evidence)	CELF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CELF4-related Tags
Green Green List (high evidence)	CELSR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), CELSR1-related Tags
Green Green List (high evidence)	CELSR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Tags
Green Green List (high evidence)	CENPF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Stromme syndrome (MIM#243605) Tags
Green Green List (high evidence)	CEP104	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Joubert syndrome 25, MIM# 616781 MONDO:0014770 Neurodevelopmental disorder MONDO:0014770, CEP104-related Tags
Green Green List (high evidence)	CEP120	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 31 (MIM 617761) Short-rib thoracic dysplasia 13 with or without polydactyly (MIM 616300) Tags
Green Green List (high evidence)	CEP135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephalic primordial dwarfism Microcephaly 8, primary, autosomal recessive, 614673 Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green Green List (high evidence)	CEP164	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 5, MIM# 610188 Meckel syndrome 4, MIM# 611134 Bardet-Biedl syndrome 14, MIM# 615991 Tags
Green Green List (high evidence)	CEP295	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Seckel syndrome 11, OMIM # 620767 Tags
Green Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CEP55	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 Microcephaly Intellectual disability Tags
Green Green List (high evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mosaic variegated aneuploidy syndrome 2, #MIM 614114 Tags
Green Green List (high evidence)	CEP76	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Joubert syndrome Bardet-Biedl syndrome retinitis pigmentosa Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	CEP85L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Lissencephaly, posterior predominant Tags
Green Green List (high evidence)	CERT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) Tags new gene name
Green Green List (high evidence)	CHAMP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 40 (MIM#616579) Tags
Green Green List (high evidence)	CHASERR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, MIM# 621012 Tags new gene name non-coding gene SV/CNV
Green Green List (high evidence)	CHD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Green Green List (high evidence)	CHD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 94, MIM# 615369 Tags
Green Green List (high evidence)	CHD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Snijders Blok-Campeau syndrome, MIM#618205 Tags
Green Green List (high evidence)	CHD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Sifrim-Hitz-Weiss syndrome, MIM 617159 Tags
Green Green List (high evidence)	CHD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability Epilepsy Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	CHD8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations {Autism, susceptibility to, 18} 615032 Neurodevelopmental disorder, MONDO:0700092, CHD8-associated Tags
Green Green List (high evidence)	CHKA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023 Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green Green List (high evidence)	CHMP1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 8, MIM# 614961 Tags
Green Green List (high evidence)	CHTF18	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO#0700092, CHTF18-related Tags
Green Green List (high evidence)	CIC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal dominant 45 MIM#617600 Tags
Green Green List (high evidence)	CIT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 17, primary, autosomal recessive (MIM#617090) Tags
Green Green List (high evidence)	CKAP2L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Filippi syndrome, MIM# 272440 Tags
Green Green List (high evidence)	CLCN3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517 Tags
Green Green List (high evidence)	CLCN4	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Raynaud-Claes syndrome, MIM#300114 intellectual disability epilepsy autistic features mood disorders cerebral white matter changes progressive appendicular spasticity Tags
Green Green List (high evidence)	CLCN6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities, MIM# 619173 Developmental delay neurodegeneration Tags
Green Green List (high evidence)	CLCNKB	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Disease associations Bartter syndrome, type 3, MIM#607364 Bartter syndrome, type 4b, digenic, MIM#613090 Tags
Green Green List (high evidence)	CLDN5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disorder, MONDO:0002254, CLDN5-related Tags
Green Green List (high evidence)	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
Green Green List (high evidence)	CLN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Tags
Green Green List (high evidence)	CLN8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations neuronal ceroid lipofuscinosis MONDO:0016295 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia type 10, MIM# 615803 Tags founder
Green Green List (high evidence)	CLPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Tags
Green Green List (high evidence)	CLTC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green Green List (high evidence)	CNKSR2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 Tags
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green Green List (high evidence)	CNOT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Vissers-Bodmer syndrome, MIM#619033 Holoprosencephaly 12, with or without pancreatic agenesis 618500 Tags
Green Green List (high evidence)	CNOT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 618608 Tags
Green Green List (high evidence)	CNOT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 618672 Tags
Green Green List (high evidence)	CNOT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	CNP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 20, MIM# 619071 Tags
Green Green List (high evidence)	CNPY3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Green Green List (high evidence)	CNTNAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypomyelinating neuropathy, congenital, 3, MIM#618186 Lethal congenital contracture syndrome 7, MIM# 616286 Tags
Green Green List (high evidence)	CNTNAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cortical dysplasia-focal epilepsy syndrome, MIM# 610042 Tags
Green Green List (high evidence)	COA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061 Tags
Green Green List (high evidence)	COASY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodegeneration with brain iron accumulation 6 615643 Pontocerebellar hypoplasia, type 12 618266 Tags
Green Green List (high evidence)	COG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIg, MIM# 611209 Tags
Green Green List (high evidence)	COG4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Saul-Wilson syndrome, OMIM #618150 Congenital disorder of glycosylation, type IIj, OMIM #613489 Tags
Green Green List (high evidence)	COG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Green Green List (high evidence)	COG6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Iil, MIM#614576 Tags
Green Green List (high evidence)	COG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIe , MIM#608779 Tags
Green Green List (high evidence)	COG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIh, MIM# 611182 Tags
Green Green List (high evidence)	COL4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations COL4A1-related disorder MONDO:0800461 Tags
Green Green List (high evidence)	COL4A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Brain small vessel disease 2, MIM# 614483 familial porencephaly MONDO:0020496 Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3MC syndrome 2, MIM# 265050 Tags
Green Green List (high evidence)	COPB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Baralle-Macken syndrome, MIM# 619255 Tags
Green Green List (high evidence)	COPB2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Coenzyme Q10 deficiency, primary, 7, MIM# 616276 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014562 Tags treatable
Green Green List (high evidence)	COQ5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Coenzyme Q10 deficiency, primary, 9 MIM#619028 Tags
Green Green List (high evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations coenzyme Q10 deficiency MONDO:0018151 Tags treatable
Green Green List (high evidence)	COX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 Tags
Green Green List (high evidence)	COX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease (MONDO:0044970), COX11-related Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 Tags
Green Green List (high evidence)	COX4I1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 Tags
Green Green List (high evidence)	COXFA4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Tags new gene name
Green Green List (high evidence)	CPAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029 Seckel syndrome 4, MIM# 613676, MONDO:0013358 Tags
Green Green List (high evidence)	CPE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder and hypogonadotropic hypogonadism, MIM# 619326 Tags
Green Green List (high evidence)	CPLANE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 17, MIM# 614615 MONDO:0013824 Orofaciodigital syndrome VI, MIM# 277170 Tags new gene name
Green Green List (high evidence)	CPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Carbamoylphosphate synthetase I deficiency MIM#237300 Tags treatable
Green Green List (high evidence)	CPSF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Tags
Green Green List (high evidence)	CRADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 34, with variant lissencephaly, MIM# 614499 Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CREBBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Rubinstein-Taybi syndrome 1, MIM# 180849 Menke-Hennekam syndrome 1, MIM# 618332 Tags
Green Green List (high evidence)	CRELD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Jeffries-Lakhani neurodevelopmental syndrome, MIM# 620771 Tags
Green Green List (high evidence)	CRIPT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Short stature with microcephaly and distinctive facies (MIM#615789) : Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	CRLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Green Green List (high evidence)	CRMP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations neurodevelopmental disorder, MONDO:0700092, CRMP1-related Tags
Green Green List (high evidence)	CRNKL1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CRPPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM#614643 Tags new gene name
Green Green List (high evidence)	CSDE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CSDE1-related Tags
Green Green List (high evidence)	CSMD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CSNK2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Okur-Chung neurodevelopmental syndrome, MIM# 617062 Tags
Green Green List (high evidence)	CSNK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTBP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 Tags
Green Green List (high evidence)	CTCF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 21 (MIM#615502) Tags
Green Green List (high evidence)	CTDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0011402 Tags
Green Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green Green List (high evidence)	CTNNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with spastic diplegia and visual defects , MIM#615075 Tags
Green Green List (high evidence)	CTNND2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder, MONDO:0700092, CTNND2-related Tags
Green Green List (high evidence)	CTR9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), CTR9-related Tags
Green Green List (high evidence)	CTSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Galactosialidosis MONDO:0009737 Tags
Green Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations neuronal ceroid lipofuscinosis MONDO:0016295 Tags
Green Green List (high evidence)	CTU2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green Green List (high evidence)	CUL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CUL1-related Tags
Green Green List (high evidence)	CUL3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without autism or seizures, MIM# 619239 Global developmental delay Intellectual disability Seizures Abnormality of cardiovascular system morphology Abnormality of the palate Tags
Green Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354 Tags
Green Green List (high evidence)	CUX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Global developmental delay with or without impaired intellectual development, MIM#618330 Tags
Green Green List (high evidence)	CUX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 67, MIM#618141 Tags
Green Green List (high evidence)	CWC27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Tags
Green Green List (high evidence)	CWF19L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spinocerebellar ataxia, autosomal recessive 17, MIM#616127 intellectual disability, developmental delay Tags
Green Green List (high evidence)	CYB5R3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Methemoglobinemia MONDO:0001117 Tags
Green Green List (high evidence)	CYFIP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 65, MIM#618008 Intellectual disability Tags
Green Green List (high evidence)	D2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations D-2-hydroxyglutaric aciduria MIM#600721 Tags
Green Green List (high evidence)	DAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 Tags
Green Green List (high evidence)	DAGLA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Tags
Green Green List (high evidence)	DARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Tags new gene name
Green Green List (high evidence)	DARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Tags
Green Green List (high evidence)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Maple syrup urine disease, type II (MIM#248600) Tags treatable
Green Green List (high evidence)	DCAF17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Woodhouse-Sakati syndrome, MIM# 241080 Tags
Green Green List (high evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Van Maldergem syndrome 1, MIM# 601390 Tags
Green Green List (high evidence)	DCPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Al-Raqad syndrome, MIM#616459 Tags
Green Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Green Green List (high evidence)	DDB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations White-Kernohan syndrome, MIM# 619426 Tags
Green Green List (high evidence)	DDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	DDHD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations hereditary spastic paraplegia 54 MONDO:0014018 Tags
Green Green List (high evidence)	DDOST	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations DDOST-congenital disorder of glycosylation MONDO:0013789 Tags
Green Green List (high evidence)	DDX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Disease associations Warsaw breakage syndrome, MONDO:0013252 Tags
Green Green List (high evidence)	DDX17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), DDX17-related Tags
Green Green List (high evidence)	DDX23	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DDX23-related Tags
Green Green List (high evidence)	DDX39B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, DDX39B-related Tags
Green Green List (high evidence)	DDX3X	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958 Tags
Green Green List (high evidence)	DDX59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Orofaciodigital syndrome V, MIM#174300 Tags
Green Green List (high evidence)	DDX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with impaired language and dysmorphic facies, MIM#618653 Tags
Green Green List (high evidence)	DEAF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171 Vulto-van Silfout-de Vries syndrome 615828 Tags
Green Green List (high evidence)	DEGS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Leukodystrophy hypomyelinating 18, MIM#618404 Tags
Green Green List (high evidence)	DENND2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), DENND2B-related Tags new gene name
Green Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 49, MIM# 617281 Tags
Green Green List (high evidence)	DENND5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related Tags
Green Green List (high evidence)	DEPDC5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epilepsy, familial focal, with variable foci 1, MIM#604364 Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Disease associations Desmosterolosis, MONDO:0011217 Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Smith-Lemli-Opitz syndrome MONDO:0010035 Tags
Green Green List (high evidence)	DHDDS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Developmental delay and seizures with or without movement abnormalities, MIM#617836 Tags
Green Green List (high evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Green Green List (high evidence)	DHPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with seizures and speech and walking impairment, MIM#618480 Tags
Green Green List (high evidence)	DHRSX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type 1DD, MIM# 301133 Tags
Green Green List (high evidence)	DHX30	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with severe motor impairment and absent language, MIM#617804 Tags
Green Green List (high evidence)	DHX37	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 Tags
Green Green List (high evidence)	DHX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 75, MIM# 620988 Tags
Green Green List (high evidence)	DIAPH1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714 Tags
Green Green List (high evidence)	DIP2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), DIP2C-related Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Perlman syndrome MONDO:0009965 Tags
Green Green List (high evidence)	DISP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Holoprosencephaly 10, MIM# 621143 Tags
Green Green List (high evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations DKC1-related disorder MONDO:0100152 Tags
Green Green List (high evidence)	DLAT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pyruvate dehydrogenase E2 deficiency, MIM#245348 Tags
Green Green List (high evidence)	DLD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Dihydrolipoamide dehydrogenase deficiency MIM#246900 Tags
Green Green List (high evidence)	DLG3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 90 MIM#300850 Tags
Green Green List (high evidence)	DLG4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder 62, MIM# 618793 Tags
Green Green List (high evidence)	DLL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability autism seizures variable brain abnormalities scoliosis Tags
Green Green List (high evidence)	DMAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, DMAP1-related Tags
Green Green List (high evidence)	DMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Green Green List (high evidence)	DMPK_DM1_CTG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Myotonic dystrophy 1 MIM#160900 Tags
Green Green List (high evidence)	DMXL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 81, MIM# 618663 Tags
Green Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags
Green Green List (high evidence)	DNAJC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-methylglutaconic aciduria type 5 MONDO:0012435 Tags
Green Green List (high evidence)	DNM1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346 Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352 Tags
Green Green List (high evidence)	DNM1L	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Literature Disease associations Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726 Tags
Green Green List (high evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Tatton-Brown-Rahman syndrome, MIM#615879 primordial dwarfism with intellectual disability and microcephaly Tags
Green Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0009454 Tags
Green Green List (high evidence)	DOCK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green Green List (high evidence)	DOCK4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder, MONDO:0700092, DOCK4-related Tags
Green Green List (high evidence)	DOCK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Adams-Oliver syndrome 2, MIM#614219 Tags
Green Green List (high evidence)	DOCK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 23 MIM#615859 MONDO:0014371 Tags
Green Green List (high evidence)	DOHH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM# 620066 Tags
Green Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DOT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Nil-Deshwan neurodevelopmental syndrome, MIM# 621265 Tags
Green Green List (high evidence)	DPAGT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Tags
Green Green List (high evidence)	DPF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Siris syndrome 7, MIM#618027 Tags
Green Green List (high evidence)	DPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901 Tags
Green Green List (high evidence)	DPH2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental delay with short stature, dysmorphic facial features, and sparse hair 2, MIM# 620062 Diphthamide-deficiency syndrome Tags
Green Green List (high evidence)	DPH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 620070 Tags
Green Green List (high evidence)	DPM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ie, MIM# 608799 Tags
Green Green List (high evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Iu, MIM#615042 Tags
Green Green List (high evidence)	DPYS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Dihydropyrimidinuria, MIM#222748 Tags
Green Green List (high evidence)	DPYSL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Ritscher-Schinzel syndrome 4, MIM# 619435 Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Tags
Green Green List (high evidence)	DRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DRD1-related Tags
Green Green List (high evidence)	DRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Tan-Almurshedi syndrome, MIM# 620641 Tags
Green Green List (high evidence)	DTYMK	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847) Tags
Green Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Dyggve-Melchior-Clausen disease, MIM#223800 Tags
Green Green List (high evidence)	DYNC1H1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations dyneinopathy MONDO:1040031 Tags
Green Green List (high evidence)	DYNC1I2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Tags
Green Green List (high evidence)	DYRK1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 7 (MIM#614104) Tags
Green Green List (high evidence)	EARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 12, MIM#614924 Tags
Green Green List (high evidence)	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Hypotonia, ataxia, and delayed development syndrome, MIM# 617330 Tags
Green Green List (high evidence)	EBP	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960 Tags somatic
Green Green List (high evidence)	EDEM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type 2V, MIM# 619493 Tags
Green Green List (high evidence)	EED	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cohen-Gibson syndrome, MIM# 617561 Tags
Green Green List (high evidence)	EEF1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 38, MIM# 616393 MONDO:0014617 Developmental and epileptic encephalopathy 33, MIM# 616409 MONDO:0014625 Tags
Green Green List (high evidence)	EEF1B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092 non-syndromic ID and seizures Intellectual disability Tags
Green Green List (high evidence)	EEF1D	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, EEF1D-related Tags
Green Green List (high evidence)	EEF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder macrocephaly hydrocephalus Tags
Green Green List (high evidence)	EEFSEC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102 Tags
Green Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 Tags
Green Green List (high evidence)	EHMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Kleefstra syndrome 1, MIM# 610253 MONDO:0027407 Tags
Green Green List (high evidence)	EIF2AK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability white matter abnormalities ataxia regression with febrile illness Tags
Green Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	EIF2S3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations MEHMO syndrome, MIM# 300148 Tags
Green Green List (high evidence)	EIF3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease (MONDO:0002254), EIF3A-related Tags
Green Green List (high evidence)	EIF3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease (MONDO:0002254), EIF3B-related Tags
Green Green List (high evidence)	EIF3F	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Mental retardation, autosomal recessive 67, MIM# 618295 Tags
Green Green List (high evidence)	EIF4A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures, MIM# 620455 Tags
Green Green List (high evidence)	EIF4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Robin sequence with cleft mandible and limb anomalies, MIM# 268305 Richieri-Costa-Pereira syndrome Tags STR
Green Green List (high evidence)	EIF4A3_RCPS_complex STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Robin sequence with cleft mandible and limb anomalies MIM#268305 Richieri-Costa-Pereira syndrome Tags
Green Green List (high evidence)	EIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Faundes-Banka syndrome, MIM# 619376 Intellectual disability microcephaly dysmorphism Tags
Green Green List (high evidence)	EIPR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mendelian neurodevelopmental disorder MONDO:0100500, EIPR1-related Tags
Green Green List (high evidence)	ELAC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 17, MIM#615440 Tags
Green Green List (high evidence)	ELOVL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760 Tags
Green Green List (high evidence)	ELP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations intellectual disability, autosomal recessive 58 MONDO:0014996 Tags
Green Green List (high evidence)	EMC1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875 Tags
Green Green List (high evidence)	EMC10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and variable seizures, MIM# 619264 Tags founder
Green Green List (high evidence)	EML1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Band heterotopia (MIM# 600348) Tags
Green Green List (high evidence)	ENTPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 64, autosomal recessive, MIM# 615683 Tags
Green Green List (high evidence)	EP300	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Rubinstein-Taybi syndrome MONDO:0019188 Tags
Green Green List (high evidence)	EP400	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with or without early-onset generalized epilepsy - MONDO:0030930 Tags
Green Green List (high evidence)	EPB41L3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	EPRS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 15 (MIM#617951) Tags
Green Green List (high evidence)	ERCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebrooculofacioskeletal syndrome 4, MIM# 610758 MONDO:0012554 Tags
Green Green List (high evidence)	ERCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations xeroderma pigmentosum group D MONDO:0010212 trichothiodystrophy 1, photosensitive MONDO:0011125 cerebrooculofacioskeletal syndrome 2 MONDO:0012553 Tags
Green Green List (high evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations xeroderma pigmentosum group B MONDO:0012531 Tags
Green Green List (high evidence)	ERCC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G, MIM# 278780 MONDO:0010216 Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 Tags
Green Green List (high evidence)	ERCC6L2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations pancytopenia-developmental delay syndrome MONDO:0014317 Tags
Green Green List (high evidence)	ERCC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cockayne syndrome type 1 MONDO:0019569 Tags
Green Green List (high evidence)	ERF	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Chitayat syndrome, MIM#617180 Craniosynostosis 4, MIM#600775 Tags
Green Green List (high evidence)	ERI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hoxha-Aliu syndrome, MIM# 620662 Tags
Green Green List (high evidence)	ERLIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 18, autosomal recessive, MIM#611225 Tags
Green Green List (high evidence)	ESAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371 Tags
Green Green List (high evidence)	ESCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Roberts-SC phocomelia syndrome MONDO:0100253 Tags
Green Green List (high evidence)	ESRRG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Movement disorder, MONDO:0005395, ESRRG-related Tags
Green Green List (high evidence)	ETFA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glutaric acidemia IIA, MIM#231680 Tags treatable
Green Green List (high evidence)	ETFB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glutaric acidemia IIB, MIM#231680 Tags treatable
Green Green List (high evidence)	ETFDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glutaric acidemia IIC, MIM#231680 Tags treatable
Green Green List (high evidence)	ETHE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ethylmalonic encephalopathy , MIM#602473 Tags treatable
Green Green List (high evidence)	EXOC7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations brain atrophy seizures developmental delay microcephaly Tags
Green Green List (high evidence)	EXOC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662 Tags
Green Green List (high evidence)	EXOSC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 1B, MIM# 614678 Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags
Green Green List (high evidence)	EXT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Tags
Green Green List (high evidence)	EXTL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	EZH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), EZH1-related Tags
Green Green List (high evidence)	EZH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Weaver syndrome MIM#277590 Tags
Green Green List (high evidence)	FAM149B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert Ciliopathy Tags
Green Green List (high evidence)	FAM177A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152 Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations lethal osteosclerotic bone dysplasia MONDO:0009821 Tags
Green Green List (high evidence)	FAM50A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Mental retardation syndrome, X-linked, Armfield type (MIM #300261) Tags
Green Green List (high evidence)	FAR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Cataracts, spastic paraparesis, and speech delay, MIM#619338 Tags
Green Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 14, MIM#614946 Tags
Green Green List (high evidence)	FARSA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Rajab interstitial lung disease with brain calcifications 2 Tags
Green Green List (high evidence)	FARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Rajab syndrome, MIM#613658 interstitial lung disease brain calcifications microcephaly intellectual disability Tags
Green Green List (high evidence)	FASTKD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, MIM#220110 Tags
Green Green List (high evidence)	FASTKD5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431 Tags
Green Green List (high evidence)	FAT4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hennekam syndrome MONDO:0016256 van Maldergem syndrome MONDO:0017813 Tags
Green Green List (high evidence)	FBRSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Malformation and intellectual disability syndrome Tags
Green Green List (high evidence)	FBXL3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with short stature, facial anomalies, and speech defects OMIM #606220 Tags
Green Green List (high evidence)	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Leigh syndrome MONDO:0009723 Tags
Green Green List (high evidence)	FBXO11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual Developmental Disorder with Dysmorphic Facies and Behavioural Abnormalities, MIM#618089 Tags
Green Green List (high evidence)	FBXO22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, FBXO22-related Tags
Green Green List (high evidence)	FBXO28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 100, MIM# 619777 Tags
Green Green List (high evidence)	FBXO31	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 45, MIM#615979 Spastic-dystonic cerebral palsy, de novo dominant Tags
Green Green List (high evidence)	FBXW11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 Intellectual disability developmental eye anomalies digital anomalies Tags
Green Green List (high evidence)	FBXW7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, hypotonia, and impaired language, MIM# 620012 Tags
Green Green List (high evidence)	FCSK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green Green List (high evidence)	FDFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Squalene synthase deficiency, MIM#618156 Tags
Green Green List (high evidence)	FDXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Auditory neuropathy and optic atrophy, MIM# 617717 Tags
Green Green List (high evidence)	FEM1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263 Tags
Green Green List (high evidence)	FERRY3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 66 MIM#618221 Tags
Green Green List (high evidence)	FEZF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, FEZF2-related Tags
Green Green List (high evidence)	FGD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400 Tags
Green Green List (high evidence)	FGF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 47, MIM# 617166 Tags
Green Green List (high evidence)	FGF13	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 90, MIM# 301058 Intellectual developmental disorder, X-linked 110, MIM# 301095 Tags 5'UTR
Green Green List (high evidence)	FGF14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Spinocerebellar ataxia 27, MIM# 609307 Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 Tags
Green Green List (high evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Hartsfield syndrome, MIM# 615465 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations CATSHL syndrome 610474 Hypochondroplasia 146000 SADDAN 616482 Muenke syndrome 602849 Thanatophoric dysplasia, type I 187600 Tags
Green Green List (high evidence)	FH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Fumarase deficiency (MIM# 606812) Tags
Green Green List (high evidence)	FIBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Thauvin-Robinet-Faivre syndrome, MIM#617107 Tags
Green Green List (high evidence)	FIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Charcot-Marie-Tooth disease MONDO:0015626 Tags
Green Green List (high evidence)	FITM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Siddiqi syndrome MIM#618635 Tags
Green Green List (high evidence)	FKRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations myopathy caused by variation in FKRP MONDO:0700066 Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Myopathy caused by variation in FKTN MONDO:0700067 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Heterotopia, periventricular, 1, MIM# 300049 Tags
Green Green List (high evidence)	FLVCR1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green Green List (high evidence)	FLVCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790 Tags
Green Green List (high evidence)	FMN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 47, MIM#616193 Tags
Green Green List (high evidence)	FMR1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations fragile X syndrome MONDO:0010383 Tags STR
Green Green List (high evidence)	FMR1_FXS_CGG STR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Fragile X syndrome MIM#300624 Tags
Green Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags
Green Green List (high evidence)	FOSL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Tags
Green Green List (high evidence)	FOXG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations FOXG1 disorder MONDO:0100040 Tags
Green Green List (high evidence)	FOXP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Green Green List (high evidence)	FOXP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Speech-language disorder-1, MIM# 602081 Tags
Green Green List (high evidence)	FOXP4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), FOXP4-related Tags
Green Green List (high evidence)	FOXRED1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial disease MONDO:0044970 Tags
Green Green List (high evidence)	FRA10AC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Fraser syndrome 1, MIM#219000 Tags
Green Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green Green List (high evidence)	FRMPD4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked 104, MIM#300983 Tags
Green Green List (high evidence)	FRRS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 37, MIM#616981 Tags
Green Green List (high evidence)	FSD1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, FSD1L-related Tags
Green Green List (high evidence)	FTO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Growth retardation, developmental delay, facial dysmorphism, MIM# 612938 Tags
Green Green List (high evidence)	FTSJ1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 9, MIM# 309549 X-linked complex neurodevelopmental disorder MONDO:0100148 Tags
Green Green List (high evidence)	FUCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Fucosidosis MONDO:0009254 Tags
Green Green List (high evidence)	FUT8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005 Tags
Green Green List (high evidence)	FZR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Developmental and epileptic encephalopathy 109, MIM# 620145 Tags
Green Green List (high evidence)	GABBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 Tags
Green Green List (high evidence)	GABBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with poor language and loss of hand skills, 617903 Tags
Green Green List (high evidence)	GABRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 19 615744 Rett syndrome Rett-like phenotypes idiopathic generalized Epilepsy Dravet syndrome Tags
Green Green List (high evidence)	GABRA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 78, 618557 Tags
Green Green List (high evidence)	GABRA3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, MIM# 301091 Tags
Green Green List (high evidence)	GABRA4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, GABRA4-related Tags
Green Green List (high evidence)	GABRA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 79 OMIM #618559 Tags
Green Green List (high evidence)	GABRB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631 Tags
Green Green List (high evidence)	GABRB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 43, MIM# 617113 Tags
Green Green List (high evidence)	GABRD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability Epilepsy Susceptibility to epilepsy, MIM#613060 Tags
Green Green List (high evidence)	GABRG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 74 618396 Epilepsy, generalized, with febrile seizures plus, type 3 607681 Tags
Green Green List (high evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Krabbe disease MONDO:000949 Tags
Green Green List (high evidence)	GALE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations galactose epimerase deficiency MONDO:0009257 Tags treatable
Green Green List (high evidence)	GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation Tags
Green Green List (high evidence)	GALT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Galactosemia, MIM#230400 Tags treatable
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations guanidinoacetate methyltransferase deficiency MONDO:0012999 Tags treatable
Green Green List (high evidence)	GATA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Pancreatic agenesis and congenital heart defects, MIM#600001 Tags
Green Green List (high evidence)	GATAD2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GATAD2A-related Tags
Green Green List (high evidence)	GATAD2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 18, OMIM # 615074 Tags
Green Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebral creatine deficiency syndrome 3, MIM# 612718 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glutaric aciduria, type I MIM#231670 Tags treatable
Green Green List (high evidence)	GCH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0100186 Tags
Green Green List (high evidence)	GCSH	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GDI1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 41 MIM#300849 Tags
Green Green List (high evidence)	GEMIN4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913 Tags
Green Green List (high evidence)	GEMIN5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, MIM# 619333 Tags
Green Green List (high evidence)	GFAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Alexander disease MONDO:0008752 Tags
Green Green List (high evidence)	GFER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Tags
Green Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Leigh syndrome MONDO:0009723 Tags
Green Green List (high evidence)	GFM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green Green List (high evidence)	GIGYF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autism spectrum disorder (MONDO:0005258), GIGYF1-related Tags
Green Green List (high evidence)	GJC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations hypomyelinating leukodystrophy 2 MONDO:0012125 hereditary spastic paraplegia 44 MONDO:0013179 Tags
Green Green List (high evidence)	GK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations inborn glycerol kinase deficiency MONDO:0010613 X-linked adrenal hypoplasia congenita MONDO:0010264 Tags SV/CNV
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations GM1 gangliosidosis MONDO:0018149 mucopolysaccharidosis type 4B MONDO:0009660 Tags
Green Green List (high evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations glycine encephalopathy MONDO:0011612 Tags
Green Green List (high evidence)	GLI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0014369 Tags
Green Green List (high evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Greig cephalopolysyndactyly syndrome MONDO:0008287 Tags
Green Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 Tags
Green Green List (high evidence)	GLRA2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076 Tags
Green Green List (high evidence)	GLS	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 71, MIM# 618328 Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412 Tags
Green Green List (high evidence)	GLS_GDPAG_GCA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags
Green Green List (high evidence)	GLUL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green Green List (high evidence)	GM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Tay-Sachs disease AB variant MONDO:0010099 Tags
Green Green List (high evidence)	GMPPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations alacrima, achalasia, and intellectual disability syndrome MONDO:0014219 Tags
Green Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations myopathy caused by variation in GMPPB MONDO:0700084 Tags
Green Green List (high evidence)	GNAI1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854 Tags
Green Green List (high evidence)	GNAI2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease MONDO:0002254, GNAI2-related Tags
Green Green List (high evidence)	GNAO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 17 Neurodevelopmental disorder with involuntary movements Tags
Green Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Disease associations Pseudohypoparathyroidism Ia (103580) Pseudohypoparathyroidism Ib (603233) Pseudohypoparathyroidism Ic (612462) Pseudopseudohypoparathyroidism (612463) Tags
Green Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 42, MIM# 616973 Tags
Green Green List (high evidence)	GNB2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM# 619503 Tags
Green Green List (high evidence)	GNB5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173) Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) Tags
Green Green List (high evidence)	GNE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Sialuria, MIM#269921 Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations glyceronephosphate O-acyltransferase deficiency MONDO:0100273 Tags
Green Green List (high evidence)	GNPTAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations GNPTAB-mucolipidosis MONDO:0100122 Tags
Green Green List (high evidence)	GNPTG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mucolipidosis III gamma, MIM# 252605 MONDO:0009652 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations mucopolysaccharidosis type 3D MONDO:0009658 Tags
Green Green List (high evidence)	GOLGA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Tags
Green Green List (high evidence)	GON4L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Li-Takada-Miyake syndrome, MIM# 621212 Tags
Green Green List (high evidence)	GOT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 82, MIM# 618721 Tags
Green Green List (high evidence)	GPAA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Tags
Green Green List (high evidence)	GPATCH11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related Leber congenital amaurosis and developmental delay Tags
Green Green List (high evidence)	GPC3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Simpson-Golabi-Behmel syndrome MONDO:0010731 Tags
Green Green List (high evidence)	GPC4	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Keipert syndrome OMIM# 301026 Tags
Green Green List (high evidence)	GPHN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Molybdenum cofactor deficiency C, MIM#615501 Tags SV/CNV
Green Green List (high evidence)	GPRC5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Tags
Green Green List (high evidence)	GPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 Tags
Green Green List (high evidence)	GRIA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 Intellectual developmental disorder, autosomal recessive 76, MIM# 619931 Tags
Green Green List (high evidence)	GRIA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM# 618917 Tags
Green Green List (high evidence)	GRIA3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked, syndromic, Wu type (MIM#300699) Tags
Green Green List (high evidence)	GRIA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Tags
Green Green List (high evidence)	GRID2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spinocerebellar ataxia, autosomal recessive 18 MIM#616204 Tags
Green Green List (high evidence)	GRIK2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 6 MIM#611092 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580 Tags
Green Green List (high evidence)	GRIN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 101 , MIM#619814 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 Tags
Green Green List (high evidence)	GRIN2A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epilepsy, focal, with speech disorder and with or without mental retardation, MIM# 245570 Tags
Green Green List (high evidence)	GRIN2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations GRIN2B-related complex neurodevelopmental disorder MONDO:0700350 Developmental and epileptic encephalopathy 27 MIM#616139 Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970 Tags
Green Green List (high evidence)	GRIN2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 46, MIM# 617162 intellectual disability Tags
Green Green List (high evidence)	GRM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations autosomal recessive spinocerebellar ataxia 13 MONDO:0013905 Tags
Green Green List (high evidence)	GRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epilepsy, microcephaly, developmental delay neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922 Tags
Green Green List (high evidence)	GSPT2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder, MONDO:0700092, GSPT2-related Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glutathione synthetase deficiency, MIM# 266130 Tags
Green Green List (high evidence)	GSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Green Green List (high evidence)	GTF2E2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Trichothiodystrophy 6, nonphotosensitive, MIM# 616943 MONDO:0014841 Tags
Green Green List (high evidence)	GTF2H5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Trichothiodystrophy 3, photosensitive MIM#616395 Tags
Green Green List (high evidence)	GTF2I	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder MONDO:0700092, GTF2I-related Tags
Green Green List (high evidence)	GTF3C3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201 Tags
Green Green List (high evidence)	GTF3C5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, GTF3C5-related Tags
Green Green List (high evidence)	GTPBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888 Tags
Green Green List (high evidence)	GTPBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Jaberi-Elahi syndrome, MIM#617988 Tags
Green Green List (high evidence)	GTPBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 23, MIM#616198 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mucopolysaccharidosis VII, MIM# 253220 MONDO:0009662 Tags
Green Green List (high evidence)	H1-4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Rahman syndrome, MIM# 617537 Tags
Green Green List (high evidence)	H3-3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Bryant-Li-Bhoj neurodevelopmental syndrome 1 MIM#619720 Tags
Green Green List (high evidence)	H3-3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721 Tags
Green Green List (high evidence)	H4C3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Tags new gene name
Green Green List (high evidence)	H4C5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950 Tags new gene name
Green Green List (high evidence)	H4C9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental syndrome, MONDO:0700092, HIST1H4I-related Tags new gene name
Green Green List (high evidence)	HACE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia and psychomotor retardation with or without seizures, 616756 MONDO:0014764 Tags
Green Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173 Tags treatable
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Trifunctional protein deficiency, MIM#609015 Tags treatable
Green Green List (high evidence)	HCCS	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations linear skin defects with multiple congenital anomalies 1 (MONDO:0024552) Tags
Green Green List (high evidence)	HCFC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked 3 (methylmalonic acidaemia and homocysteinaemia, cblX type) MIM# 309541 Tags
Green Green List (high evidence)	HCN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 24, MIM# 615871 Generalized epilepsy with febrile seizures plus, type 10, MIM# 618482 Tags
Green Green List (high evidence)	HCN2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder (MONDO#0700092), HCN2-related Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477 Tags
Green Green List (high evidence)	HDAC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, HDAC3-related Tags
Green Green List (high evidence)	HDAC4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with central hypotonia and dysmorphic facies MIM#619797 Brachydactyly mental retardation syndrome Brachydactyly without intellectual disability Tags
Green Green List (high evidence)	HDAC8	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Cornelia de Lange syndrome 5, MIM# 300882 Tags
Green Green List (high evidence)	HECTD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250 Tags
Green Green List (high evidence)	HECW2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with hypotonia, seizures, and absent language (MIM#617268) Tags
Green Green List (high evidence)	HEPACAM	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0013490 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0013491 Tags
Green Green List (high evidence)	HERC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Macrocephaly, dysmorphic facies, and psychomotor retardation, MIM# 617011 Tags
Green Green List (high evidence)	HERC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 38, MIM# 615516 Tags
Green Green List (high evidence)	HESX1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099 Tags
Green Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Tay-Sachs disease MONDO:0010100 Tags
Green Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Sandhoff disease MONDO:0010006 Tags
Green Green List (high evidence)	HGSNAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 MONDO:0009657 Tags
Green Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 Leigh syndrome MONDO:0009723 Tags
Green Green List (high evidence)	HID1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 105 with hypopituitarism MIM#619983 Tags
Green Green List (high evidence)	HIKESHI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Leukodystrophy, hypomyelinating, 13, MIM# 616881 Tags
Green Green List (high evidence)	HIRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, HIRA-related Tags
Green Green List (high evidence)	HIVEP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 43, MIM# 616977 Tags
Green Green List (high evidence)	HK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Tags
Green Green List (high evidence)	HLCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations holocarboxylase synthetase deficiency MONDO:0009666 Tags treatable
Green Green List (high evidence)	HMBS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Encephalopathy, porphyria-related MIM#620704 Leukoencephalopathy, porphyria-related, MIM#620711 Tags
Green Green List (high evidence)	HMGB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay and microcephaly, no OMIM # Tags
Green Green List (high evidence)	HMGCL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Tags treatable
Green Green List (high evidence)	HNMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 51, MIM#616739 Tags
Green Green List (high evidence)	HNRNPC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations intellectual developmental disorder-74, MIM#620688 Tags
Green Green List (high evidence)	HNRNPD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder MONDO:0100038, HNRNPD-related Tags
Green Green List (high evidence)	HNRNPH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, MIM# 620083 Tags
Green Green List (high evidence)	HNRNPH2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green Green List (high evidence)	HNRNPK	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome (Au-Kline syndrome) MONDO:0018681 Tags
Green Green List (high evidence)	HNRNPR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073 Tags
Green Green List (high evidence)	HNRNPU	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 54 MIM# 617391 Tags
Green Green List (high evidence)	HOXA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bosley-Salih-Alorainy syndrome, MIM#601536 and Athabaskan brainstem dysgenesis syndrome, MIM#601536 Tags
Green Green List (high evidence)	HPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations tyrosinemia type III MONDO:0010162 Tags
Green Green List (high evidence)	HPDL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026 Progressive neurological disorder Leigh-like syndrome Tags
Green Green List (high evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Lesch-Nyhan syndrome MONDO:0010298 Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Costello syndrome, MIM# 218040 Tags
Green Green List (high evidence)	HS2ST1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Intellectual disability dysmorphic features congenital anomalies Tags
Green Green List (high evidence)	HS6ST2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations X-linked syndromic intellectual disability MONDO:0020119 Tags
Green Green List (high evidence)	HSD17B10	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations HSD10 mitochondrial disease MONDO:0010327 Tags
Green Green List (high evidence)	HSD17B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green Green List (high evidence)	HSPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Leukodystrophy, hypomyelinating, 4, MIM# 612233 Tags
Green Green List (high evidence)	HSPG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Schwartz-Jampel syndrome, type 1, MIM#255800 Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-methylglutaconic aciduria type 8 MONDO:0044723 Tags
Green Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked syndromic, Turner type Tags
Green Green List (high evidence)	HYCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations hypomyelinating leukodystrophy 5 MONDO:0012514 Tags
Green Green List (high evidence)	IARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags new gene name
Green Green List (high evidence)	IBA57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 Tags
Green Green List (high evidence)	IDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations mitochondrial disease MONDO:0044970 Tags
Green Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations mucopolysaccharidosis type 2 MONDO:0010674 Tags
Green Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations mucopolysaccharidosis type 1 MONDO:0001586 Tags
Green Green List (high evidence)	IER3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IFIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations IFIH1-related type 1 interferonopathy MONDO:0700262 Tags
Green Green List (high evidence)	IFT172	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome MONDO:0015229 Tags
Green Green List (high evidence)	IFT27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 19, MIM#615996 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Bardet-Biedl syndrome 20, MIM# 617119 Joubert syndrome 40, MIM# 619582 Spermatogenic failure 58, MIM# 619585 Tags
Green Green List (high evidence)	IGF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 Tags
Green Green List (high evidence)	IGF1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Insulin-like growth factor I, resistance to, MIM# 270450 Tags
Green Green List (high evidence)	IKBKG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Incontinentia pigmenti MONDO:0010631 Tags
Green Green List (high evidence)	IL1RAPL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 21 MIM#300143 Tags
Green Green List (high evidence)	IMPDH2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dystonia Tags
Green Green List (high evidence)	INPP4A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 1, MIM# 213300 MONDO:0008944 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156 MONDO:0012423 Tags
Green Green List (high evidence)	INPP5K	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607 Tags
Green Green List (high evidence)	INTS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, MIM# 618571 Tags
Green Green List (high evidence)	INTS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Tags
Green Green List (high evidence)	INTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Oral-facial-digital syndrome, MONDO:0015375, INTS13-related Tags
Green Green List (high evidence)	INTS6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, INTS6-related Tags
Green Green List (high evidence)	IPO8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Green Green List (high evidence)	IQSEC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with short stature and behavioral abnormalities, MIM# 618687 Tags
Green Green List (high evidence)	IQSEC2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 1, MIM# 309530 Neurodevelopmental disorder, X-linked, with poor or absent speech and behavioral abnormalities, MIM# 301164 Tags
Green Green List (high evidence)	IREB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Tags
Green Green List (high evidence)	IRF2BPL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM#618088 Tags
Green Green List (high evidence)	IRX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hamamy syndrome, MIM# 611174 Tags
Green Green List (high evidence)	Cri-du-chat syndrome, 5p15 terminal deletion syndrome ISCA-37390-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Cri-du-chat syndrome MIM#123450 intellectual disability microcephaly Tags SV/CNV
Green Green List (high evidence)	7q11.23 duplication syndrome ISCA-37392-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Chromosome 7q11.23 duplication syndrome, MIM# 609757 intellectual disability hypotonia macrocephaly seizures aortic dilatation Tags SV/CNV
Green Green List (high evidence)	Williams-Beuren syndrome, 7q11.23 deletion syndrome ISCA-37392-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Williams-Beuren syndrome, MIM# 194050 intellectual disability growth retardation cardiovascular disease Tags SV/CNV
Green Green List (high evidence)	Cat eye syndrome, 22q11.21 tetrasomy syndrome ISCA-37393-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Cat eye syndrome, MIM# 115470 coloboma anal atresia heart and renal malformations Tags SV/CNV
Green Green List (high evidence)	2q37.3 deletion syndrome ISCA-37394-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Chromosome 2q37 deletion syndrome, MIM# 600430 brachydactyly intellectual disability Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q24 deletion syndrome ISCA-37396-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 15q24 deletion syndrome, MIM#613406 intellectual disability facial dysmorphisms congenital malformations of the hands and feet, eye, and genitalia joint laxity and growth retardation and failure to thrive Tags SV/CNV
Green Green List (high evidence)	Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal ISCA-37397-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 22q11.2 microduplication syndrome, MIM#608363, distal intellectual disability dysmorphic features congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, distal, MIM#611867 ISCA-37397-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 22q11.2 deletion syndrome, distal, MIM#611867 intellectual disability seizures growth retardation multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p11.2 duplication syndrome, proximal ISCA-37400-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 16p11.2 duplication syndrome, MIM# 614671 intellectual disability autism Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p11.2 deletion syndrome, proximal ISCA-37400-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 16p11.2 deletion syndrome, proximal, MIM# 611913 autism intellectual disability seizures Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q11q13 duplication syndrome ISCA-37404-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 15q11q13 duplication syndrome {Autism susceptibility 4} 608636 intellectual disability seizures ataxia Tags SV/CNV
Green Green List (high evidence)	Angelman and Prader-Willi syndromes ISCA-37404-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome ISCA-37406-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q13.3 microdeletion syndrome ISCA-37411-Loss Region	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Chromosome 15q13.3 microdeletion syndrome, MIM# 612001 intellectual disability epilepsy Tags SV/CNV
Green Green List (high evidence)	16p13.11 microduplication syndrome ISCA-37415-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations 16p13.11 microduplication syndrome intellectual disability autism aortopathy Tags SV/CNV
Green Green List (high evidence)	Potocki-Lupski syndrome ISCA-37418-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Potocki-Lupski syndrome, MIM# 610883 Tags
Green Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37418-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green NHS GMS Disease associations Smith-Magenis syndrome, MIM#182290 Tags
Green Green List (high evidence)	Chromosome 1q21.1 duplication syndrome, distal BP3-BP4 ISCA-37421-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 1q21.1 duplication syndrome, MIM# 612475 intellectual disability autism macrocephaly Tags SV/CNV
Green Green List (high evidence)	Chromosome 1q21.1 deletion syndrome, distal BP3-BP4 ISCA-37421-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 1q21.1 deletion syndrome, MIM# 612474 intellectual disability microcephaly congenital anomalies Tags SV/CNV
Green Green List (high evidence)	8p23.1 duplication syndrome ISCA-37423-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations 8p23.1 duplication syndrome intellectual disability congenital heart disease Tags SV/CNV
Green Green List (high evidence)	8p23.1 deletion syndrome ISCA-37423-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations 8p23.1 deletion syndrome congenital heart disease developmental delay Tags SV/CNV
Green Green List (high evidence)	10q22.3q23.2 deletion syndrome (LCR-3/4-flanked) ISCA-37424-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked) intellectual disability autism macrocephaly Tags SV/CNV
Green Green List (high evidence)	Chromosome 5q35 duplication syndrome ISCA-37425-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 5q35 duplication syndrome microcephaly failure to thrive seizures Tags SV/CNV
Green Green List (high evidence)	Sotos syndrome, chromosome 5q35 deletion ISCA-37425-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Sotos syndrome, chromosome 5q35 deletion intellectual disability overgrowth Tags SV/CNV
Green Green List (high evidence)	Wolf-Hirschhorn syndrome, chromosome 4p16.3 terminal deletion ISCA-37429-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Wolf-Hirschhorn syndrome, MIM# 194190 intellectual disability growth retardation seizures dysmorphic features Tags SV/CNV
Green Green List (high evidence)	Chromosome 17p13.3 duplication syndrome, centromeric ISCA-37430-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215 intellectual disability Tags SV/CNV
Green Green List (high evidence)	Miller-Dieker syndrome, chromosome 17p13.3 deletion syndrome ISCA-37430-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Miller-Dieker lissencephaly syndrome, MIM# 247200 Tags
Green Green List (high evidence)	Chromosome 17q11.2 duplication syndrome ISCA-37431-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 17q11.2 duplication syndrome, 1.4-Mb MIM#618874 NF1 microduplication intellectual disability micro- and macrocephaly seizures dysmorphic features Tags
Green Green List (high evidence)	Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome ISCA-37431-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 17q11.2 deletion syndrome, MIM#613675 NF1 deletion syndrome Tags
Green Green List (high evidence)	Chromosome 17q12 duplication syndrome ISCA-37432-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Chromosome 17q12 duplication syndrome 614526 intellectual disability seizures congenital anomalies Tags
Green Green List (high evidence)	Chromosome 17q12 deletion syndrome ISCA-37432-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Chromosome 17q12 deletion syndrome MIM#614527 Renal cysts and diabetes (RCAD) syndrome Tags
Green Green List (high evidence)	Chromosome 22q11.2 microduplication syndrome ISCA-37433-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Chromosome 22q11.2 microduplication syndrome MIM#608363 Tags
Green Green List (high evidence)	DiGeorge syndrome ISCA-37433-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations DiGeorge syndrome MIM#188400 Tags
Green Green List (high evidence)	Chromosome 1p36 deletion syndrome ISCA-37434-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Chromosome 1p36 deletion syndrome MIM#607872 intellectual disability hypotonia congenital anomalies Tags
Green Green List (high evidence)	Chromosome Xq28 duplication syndrome ISCA-37439-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Chromosome Xq28 duplication syndrome MIM#300815 Tags
Green Green List (high evidence)	2p21 deletion syndrome ISCA-37440-Loss Region	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations 2p21 deletion syndrome Hypotonia-cystinuria syndrome, MIM# 606407 Tags
Green Green List (high evidence)	Potocki-Shaffer syndrome ISCA-37441-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Potocki-Shaffer syndrome MIM#601224 intellectual disability multiple exostoses biparietal foramina Tags
Green Green List (high evidence)	Chromosome 3q29 microdeletion syndrome ISCA-37443-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Chromosome 3q29 microdeletion syndrome MIM#609425 intellectual disability autism Tags
Green Green List (high evidence)	Chromosome 22q11.2 microduplication syndrome ISCA-37446-Gain Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D Tags
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, distal ISCA-37446-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q11.2 deletion syndrome, MIM#615656 ISCA-37448-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations Chromosome 15q11.2 deletion syndrome, MIM#615656 Tags
Green Green List (high evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Disease associations Chromosome Xp11.23 deletion syndrome Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q11q13 duplication syndrome ISCA-37478-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 15q11q13 duplication syndrome, MIM#608636 autism intellectual disability ataxia Tags SV/CNV
Green Green List (high evidence)	Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions ISCA-37478-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Disease associations Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	Chromosome 16p11.2 deletion syndrome ISCA-37486-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3 intellectual disability autism obesity Tags SV/CNV
Green Green List (high evidence)	1q43q44 microdeletion syndrome ISCA-37493-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations 1q43q44 microdeletion syndrome intellectual disability seizures microcephaly corpus callosum abnormalities Tags SV/CNV
Green Green List (high evidence)	Chromosome Xq28 duplication syndrome ISCA-37494-Gain Region	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Chromosome Xq28 duplication syndrome MIM#300815 intellectual disability hypotonia seizures spasticity recurrent respiratory infections Tags
Green Green List (high evidence)	11q13.2q13.4 recurrent region ISCA-37498-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations 11q13.2q13.4 deletion syndrome Tags
Green Green List (high evidence)	Chromosome 15q25 deletion syndrome ISCA-37500-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 15q25 deletion syndrome MIM#614294 intellectual disability congenital abnormalities haematological abnormalities Tags
Green Green List (high evidence)	Chromosome Xp11.23-p11.22 duplication syndrome ISCA-46290-Gain Region	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 intellectual disability seizures Tags
Green Green List (high evidence)	Chromosome 15q13.3 microdeletion syndrome ISCA-46295-Loss Region	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Chromosome 15q13.3 microdeletion syndrome MIM#612001 intellectual disability seizures Tags
Green Green List (high evidence)	15q24 recurrent deletion (LCR A- LCR C) ISCA-46296-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	Xp11.22 microduplication syndrome ISCA-46299-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Xp11.22 microduplication syndrome MIM#300705 Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q24 deletion syndrome distal ISCA-46300-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Disease associations Chromosome 15q24 deletion syndrome, MONDO:0013256 Tags
Green Green List (high evidence)	Xq28 (includes MECP2) gain ISCA-46304-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources ClinGen Expert Review Green Disease associations Syndromic X-linked intellectual disability Lubs type, MONDO:0010283 Tags
Green Green List (high evidence)	Xq25 duplication syndrome, MIM#300979 ISCA-46743-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Disease associations Xq25 duplication syndrome, MIM#300979 Tags
Green Green List (high evidence)	ISCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613 Tags
Green Green List (high evidence)	ISCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Tags
Green Green List (high evidence)	ITFG2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental abnormality Intellectual disability Developmental regression Ataxia Tags
Green Green List (high evidence)	ITGAV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372 Tags
Green Green List (high evidence)	ITPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 35, MIM# 616647 Tags
Green Green List (high evidence)	ITPR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795 spinocerebellar ataxia type 29 MONDO:0007298 Tags
Green Green List (high evidence)	ITSN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092 ITSN1-related Tags
Green Green List (high evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations isovaleric acidaemia MONDO:0009475 Tags treatable
Green Green List (high evidence)	JAM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, MIM# 613730 Tags
Green Green List (high evidence)	JARID2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098 Tags SV/CNV
Green Green List (high evidence)	JKAMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with seizures and impaired intellectual and language development, MIM# 621533 Tags
Green Green List (high evidence)	JMJD1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Intellectual disability (MONDO#0001071), JMJD1C-related Tags
Green Green List (high evidence)	KANSL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Koolen-De Vries syndrome (MIM#610443) Tags SV/CNV
Green Green List (high evidence)	KARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Combined mitochondrial oxidative phosphorylation deficiency epilepsy intellectual disability microcephaly Tags
Green Green List (high evidence)	KAT5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities (NEDFASB), MIM#619103 Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green Green List (high evidence)	KAT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations syndromic intellectual disability MONDO:0000508 Tags
Green Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations KAT6B-related multiple congenital anomalies syndrome MONDO:0036042 Tags
Green Green List (high evidence)	KAT8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability seizures autism dysmorphic features Li-Ghorbani-Weisz syndrome, MIM#618974 Tags
Green Green List (high evidence)	KATNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Lissencephaly 6, with microcephaly, MIM# 616212 Tags
Green Green List (high evidence)	KATNIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 26, MIM# 616784 Tags
Green Green List (high evidence)	KBTBD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, KBTBD2-related Tags
Green Green List (high evidence)	KCNA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Early infantile encephalopathy 32, MIM#616366 Tags
Green Green List (high evidence)	KCNA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, KCNA3-related Tags
Green Green List (high evidence)	KCNA6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy, MONDO:0100620, KCNA6-related Tags
Green Green List (high evidence)	KCNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 26, MIM# 616056 Tags
Green Green List (high evidence)	KCNB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, KCNB2-related Tags
Green Green List (high evidence)	KCNC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability Movement disorders Epilepsy, progressive myoclonic 7 (MIM#616187) Tags
Green Green List (high evidence)	KCNC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Developmental and epileptic encephalopathy 103, MIM# 619913 Tags
Green Green List (high evidence)	KCND1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, KCND1-related Tags
Green Green List (high evidence)	KCND2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092 global developmental delay, HP:0001263 seizure, HP:0001250 Tags
Green Green List (high evidence)	KCND3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Spinocerebellar ataxia 19, MIM#607346 Tags
Green Green List (high evidence)	KCNH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green Green List (high evidence)	KCNH5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 112, MIM# 620537 Tags
Green Green List (high evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, KCNJ4-related Tags
Green Green List (high evidence)	KCNJ6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Keppen-Lubinsky syndrome, MIM# 614098 MONDO:0013572 Tags
Green Green List (high evidence)	KCNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 618381 Tags
Green Green List (high evidence)	KCNK9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Disease associations Birk-Barel syndrome, MIM# 612292 MONDO:0012856 Tags
Green Green List (high evidence)	KCNMA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebellar atrophy, developmental delay, and seizures, MIM# 617643 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446 Tags
Green Green List (high evidence)	KCNN2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green Green List (high evidence)	KCNN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Zimmermann-Laband syndrome 3 MIM#618658 Tags
Green Green List (high evidence)	KCNQ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 7, MIM# 613720 Intellectual disability Tags
Green Green List (high evidence)	KCNQ3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Seizures, benign neonatal, 2, MIM# 121201 Tags
Green Green List (high evidence)	KCNQ5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 46, MIM# 617601 Tags
Green Green List (high evidence)	KCNT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy MIM#614959 childhood-onset epilepsy syndrome MONDO:0020072 Tags
Green Green List (high evidence)	KCNT2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile 57, 617771 Tags
Green Green List (high evidence)	KCTD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder MONDO:0700092, KCTD3-related Tags
Green Green List (high evidence)	KCTD7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations progressive myoclonus epilepsy MONDO:0020074 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) Tags
Green Green List (high evidence)	KDM1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cleft palate, psychomotor retardation, and distinctive facial features 616728 Tags
Green Green List (high evidence)	KDM2A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, KDM2A-related Tags
Green Green List (high evidence)	KDM2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474 Tags
Green Green List (high evidence)	KDM3B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Diets-Jongmans syndrome, MIM# 618846 Intellectual disability dysmorphic features short stature Tags
Green Green List (high evidence)	KDM4B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 65, MIM# 619320 Global developmental delay, intellectual disability and neuroanatomical defects Tags
Green Green List (high evidence)	KDM5A	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, KDM5A-related El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820 Tags
Green Green List (high evidence)	KDM5B	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 65 MIM#618109 Neurodevelopmental disorder (MONDO#0700092), KDM5B-related, autosomal dominant Tags
Green Green List (high evidence)	KDM5C	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KDM6A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Kabuki syndrome 2 MONDO:0010465 Tags
Green Green List (high evidence)	KDM6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual disability Tags
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 23 MIM#616490 Tags new gene name
Green Green List (high evidence)	KICS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Intellectual developmental disorder, autosomal recessive 83, MIM# 621100 Tags new gene name
Green Green List (high evidence)	KIDINS220	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296 MONDO:0015007 Tags
Green Green List (high evidence)	KIF11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950 MONDO:0007918 Tags
Green Green List (high evidence)	KIF14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 20, primary, autosomal recessive, MIM# 617914 Meckel syndrome 12, MIM# 616258 Tags
Green Green List (high evidence)	KIF1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 9, MIM#614255 Tags
Green Green List (high evidence)	KIF21B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, KIF21B-related Tags
Green Green List (high evidence)	KIF26A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Tags
Green Green List (high evidence)	KIF2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cortical dysplasia, complex, with other brain malformations 3, 615411 Tags
Green Green List (high evidence)	KIF4A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 100 MIM#300923 Tags
Green Green List (high evidence)	KIF5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations acrocallosal syndrome MONDO:0008708 KIF7-related ciliopathy MONDO:0800463 Joubert syndrome 12 MIM#200990 Tags
Green Green List (high evidence)	KIFBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Goldberg-Shprintzen megacolon syndrome 609460 Tags new gene name
Green Green List (high evidence)	KLF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder (MONDO:0700092), KLF7-related Tags
Green Green List (high evidence)	KLHL13	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, KLHL13-related Tags
Green Green List (high evidence)	KLHL15	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Mental retardation, X-linked 103, MIM#300982 Tags
Green Green List (high evidence)	KLHL20	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, MIM# 621390 Tags
Green Green List (high evidence)	KLHL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations PERCHING syndrome MONDO:0014890 acrocallosal syndrome MONDO:0008708 Tags
Green Green List (high evidence)	KMT2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Wiedemann-Steiner syndrome, MIM# 605130 AD Tags
Green Green List (high evidence)	KMT2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Dystonia 28, childhood-onset 617284 MONDO:0015004 Intellectual developmental disorder, autosomal dominant 68, MIM# 619934 Tags
Green Green List (high evidence)	KMT2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Kleefstra syndrome 2, MIM#617768 Neurodevelopmental disorder, MONDO:0700092, KMT2C-related Tags
Green Green List (high evidence)	KMT2D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Kabuki syndrome 1, MIM# 147920 KMT2D-associated syndrome Tags
Green Green List (high evidence)	KMT2E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations O'Donnell-Luria-Rodan syndrome, MIM# 618512 Intellectual disability Autism Seizures Tags
Green Green List (high evidence)	KMT5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal dominant 51 MIM# 617788 Tags
Green Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 4, primary, autosomal recessive, MIM# 604321 MONDO:0011437 Tags
Green Green List (high evidence)	KPTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 41 (MIM#615637) Tags
Green Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome 3, MIM# 609942 Cardiofaciocutaneous syndrome 2, MIM# 615278 Tags
Green Green List (high evidence)	L1CAM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations L1 syndrome MONDO:0017140 Tags
Green Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations L-2-hydroxyglutaric aciduria, MIM#236792 Tags
Green Green List (high evidence)	LAGE3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Tags
Green Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Tags
Green Green List (high evidence)	LAMA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138 LAMA2-related muscular dystrophy (suggested by PMID: 30055037) Tags
Green Green List (high evidence)	LAMB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Lissencephaly 5, MIM# 615191 Cystic leukoencephalopathy Tags
Green Green List (high evidence)	LAMB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pierson syndrome, MIM#609049 Tags
Green Green List (high evidence)	LAMC3	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations complex neurodevelopmental disorder MONDO:0100038 Cortical malformations, occipital, MIM# 614115 Tags
Green Green List (high evidence)	LAMP2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Danon disease, MIM# 300257 MONDO:0010281 Tags
Green Green List (high evidence)	LARGE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 Tags
Green Green List (high evidence)	LARP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Alazami syndrome, MIM# 615071 Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Tags
Green Green List (high evidence)	LARS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Infantile liver failure syndrome 1, MIM# 615438 Seizures Intellectual disability Encephalopathy Tags new gene name
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Perrault syndrome 4, MIM# 615300 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Tags
Green Green List (high evidence)	LAS1L	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Wilson-Turner syndrome, MIM# 309585 Tags
Green Green List (high evidence)	LEO1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, LEO-1 related Tags
Green Green List (high evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LGI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 121, MIM# 621475 Tags
Green Green List (high evidence)	LGI3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, LGI3-related Global developmental delay Intellectual disability Distal deformities Diminished reflexes Facial myokymia Hyporeflexia/areflexi Tags
Green Green List (high evidence)	LHX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO: 0700092) Tags
Green Green List (high evidence)	LIAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperglycinemia, lactic acidosis, and seizures, MIM#614462 Tags
Green Green List (high evidence)	LIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations LIG4 syndrome, MIM# 606593 Tags
Green Green List (high evidence)	LINGO4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental Delay, Intellectual disability, speech disorder Tags
Green Green List (high evidence)	LINS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 27, MIM# 614340 Tags
Green Green List (high evidence)	LIPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Lipoyltransferase 1 deficiency, MIM#616299 Tags
Green Green List (high evidence)	LMAN2L	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 69 MIM#617863 Intellectual developmental disorder, autosomal recessive 52 MIM#616887 Tags
Green Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Methylmalonic aciduria and homocystinuria, cblF type, MIM# 277380 Tags treatable
Green Green List (high evidence)	LMBRD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental delay with variable neurologic and brain abnormalities, MIM# 619694 Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags
Green Green List (high evidence)	LMNB1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 26, primary, autosomal dominant, MIM# 619179 Global developmental delay, Intellectual disability, Microcephaly, Short stature, Seizures, Abnormality of the corpus callosum, Cortical gyral simplification, Feeding difficulties, Scoliosis Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 Tags
Green Green List (high evidence)	LMNB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Microcephaly 27, primary, autosomal dominant, MIM# 619180 Congenital microcephaly Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	LNPK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090 Tags
Green Green List (high evidence)	LONP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Donnai-Barrow syndrome, MIM#222448 Tags
Green Green List (high evidence)	LRPPRC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111 Tags
Green Green List (high evidence)	LRRC7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 77, MIM# 621415 Tags
Green Green List (high evidence)	LSM1	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations FICUS syndrome, MIM# 621193 Tags
Green Green List (high evidence)	LSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cataract 44, OMIM #616509 Hypotrichosis 14, OMIM #618275 intellectual disability and alopecia Tags
Green Green List (high evidence)	LTBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cutis laxa, autosomal recessive, type IIE MIM#619451 Tags
Green Green List (high evidence)	LYRM7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Tags
Green Green List (high evidence)	LYSET	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dysostosis multiplex, Ain-Naz type MIM@619345 Tags new gene name
Green Green List (high evidence)	LZTFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	LZTR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Noonan syndrome 10, MIM#616564 Noonan syndrome 2, MIM#605275 Tags
Green Green List (high evidence)	MAB21L1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cerebellar, ocular, craniofacial, and genital syndrome MIM#618479 Tags
Green Green List (high evidence)	MAB21L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Tags
Green Green List (high evidence)	MACF1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Lissencephaly 9 with complex brainstem malformation, MIM#618325 Neurodevelopmental disorder (MONDO:0700092), MACF1-related Tags
Green Green List (high evidence)	MADD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations DEEAH syndrome, MIM#619004 (Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities) Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia (NEDDISH), MIM# 619005 Tags
Green Green List (high evidence)	MAEA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MAEA-related Tags
Green Green List (high evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Ayme-Gripp syndrome (MIM#601088) Tags
Green Green List (high evidence)	MAGEL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Disease associations Schaaf-Yang syndrome, MIM# 615547 Tags
Green Green List (high evidence)	MAN1B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 15, MIM#614202 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mannosidosis, alpha-, types I and II, MIM# 248500 MONDO:0009561 Tags treatable
Green Green List (high evidence)	MAN2C1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of deglycosylation 2, MIM# 619775 Tags
Green Green List (high evidence)	MANBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mannosidosis, beta, MIM# 248510 MONDO:0009562 Tags
Green Green List (high evidence)	MAOA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Brunner syndrome, MIM# 300615 Tags
Green Green List (high evidence)	MAP1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Literature Disease associations Intellectual disability seizures PVNH dysmorphic features Periventricular nodular heterotopia 9, MIM# 618918 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green Green List (high evidence)	MAP2K4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	MAP4K4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations RASopathy, MONDO:0021060, MAP4K4-related Tags
Green Green List (high evidence)	MAPK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Noonan syndrome 13, MIM#619087 Global developmental delay Intellectual disability Behavioral abnormality Growth delay Abnormality of the face Abnormality of the neck Abnormality of the cardiovascular system Abnormality of the skin Tags
Green Green List (high evidence)	MAPK8IP3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Tags
Green Green List (high evidence)	MAPKAPK5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurocardiofaciodigital syndrome, MIM# 619869 Tags
Green Green List (high evidence)	MAPRE2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Symmetric circumferential skin creases, congenital, 2, MIM# 616734 Tags
Green Green List (high evidence)	MARK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 76, MIM# 621285 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3MC syndrome 1, MIM# 257920 MONDO:0009770 Tags
Green Green List (high evidence)	MAST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations OMIM #618273 Tags
Green Green List (high evidence)	MAST3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 108, MIM#620115 Tags
Green Green List (high evidence)	MAST4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, MAST4-related Tags
Green Green List (high evidence)	MAT1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850 Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MAU2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Cornelia de Lange syndrome 7, MIM# 621570 Tags
Green Green List (high evidence)	MAX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Green Green List (high evidence)	MBD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 1, MIM# 156200 MONDO:0007974 Tags SV/CNV
Green Green List (high evidence)	MBOAT7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability MIM#617188 Tags
Green Green List (high evidence)	MBTPS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213 Tags
Green Green List (high evidence)	MCM3AP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124 Tags
Green Green List (high evidence)	MCM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MCM6-related Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags SV/CNV
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 1, primary, autosomal recessive, MIM# 251200 MONDO:0009617 Tags
Green Green List (high evidence)	MDGA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 122, MIM# 621608 Tags
Green Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green Green List (high evidence)	MECP2	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Disease associations Encephalopathy, neonatal severe 300673 XLR Mental retardation, X-linked, syndromic 13 300055 XLR Rett syndrome 312750 XLD Tags
Green Green List (high evidence)	MED11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Tags
Green Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations MED12-related intellectual disability syndrome MONDO:0100000 Tags
Green Green List (high evidence)	MED12L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder, MONDO:0700092, MED12L-related Intellectual disability Seizures Autism Tags
Green Green List (high evidence)	MED13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder 61, MIM# 618009 Tags
Green Green List (high evidence)	MED13L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations syndromic intellectual disability MONDO:0000508 Tags
Green Green List (high evidence)	MED16	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Guillouet-Gordon syndrome MIM#621220 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MED23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations syndromic intellectual disability MONDO:0000508 Tags
Green Green List (high evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Tags founder
Green Green List (high evidence)	MED27	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, MIM# 619286 Tags
Green Green List (high evidence)	MEF2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags 5'UTR SV/CNV
Green Green List (high evidence)	MEG3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Disease associations Kagami-Ogata syndrome, MIM# 608149 Tags
Green Green List (high evidence)	MEGF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Carpenter syndrome 2 OMIM #614976 Tags
Green Green List (high evidence)	MEIS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cleft palate, cardiac defects, and mental retardation (MIM#600987) Tags
Green Green List (high evidence)	METTL23	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Mental retardation, autosomal recessive 44 OMIM#615942 Tags
Green Green List (high evidence)	METTL5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal recessive 72, MIM# 618665 Tags
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green Green List (high evidence)	MFSD2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Microcephaly 15, primary, autosomal recessive, MIM# 616486 Tags
Green Green List (high evidence)	MFSD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 MONDO:0012588 Tags
Green Green List (high evidence)	MGAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Green Green List (high evidence)	MICU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Myopathy with extrapyramidal signs, MIM# 615673 Tags founder
Green Green List (high evidence)	MID1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations X-linked Opitz G/BBB syndrome MONDO:0010222 Tags
Green Green List (high evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations McKusick-Kaufman syndrome, MIM# 236700 Bardet-Biedl syndrome 6, MIM# 605231 Retinitis pigmentosa Tags
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 28, MIM# 617121 MONDO:0014928 Meckel syndrome 1, MIM# 249000 MONDO:0009571 Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Tags
Green Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green Green List (high evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100 Tags treatable
Green Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110 Tags treatable
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Tags treatable
Green Green List (high evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Homocystinuria, cblD type, variant 1 MIM#277410 Methylmalonic aciduria and homocystinuria, cblD type MIM#277410 Methylmalonic aciduria, cblD type, variant 2 MIM#277410 Disorders of cobalamin absorption, transport and metabolism Tags treatable
Green Green List (high evidence)	MMUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags treatable
Green Green List (high evidence)	MN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CEBALID syndrome, MIM#618774 Intellectual disability dysmophic features rhombencephalosynapsis Tags
Green Green List (high evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Molybdenum cofactor deficiency A, MIM# 252150 Tags treatable
Green Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Molybdenum cofactor deficiency B MIM#252160 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	MOGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MORC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090 Intellectual disability Tags
Green Green List (high evidence)	MPDU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Green Green List (high evidence)	MPDZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hydrocephalus, congenital, 2, with or without brain or eye anomalies OMIM #615219 Tags
Green Green List (high evidence)	MPLKIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Trichothiodystrophy 4, nonphotosensitive, MIM# 234050 MONDO:0021013 Tags
Green Green List (high evidence)	MPV17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 Tags
Green Green List (high evidence)	MRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Noonan syndrome 11 - MIM#618499 Tags
Green Green List (high evidence)	MRPL49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 60, MIM# 621195 Tags
Green Green List (high evidence)	MRPS22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 5 MIM#611719 Tags
Green Green List (high evidence)	MRPS34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 32, MIM# 617664 Tags
Green Green List (high evidence)	MSL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Karayol-Borroto-Haghshenas neurodevelopmental syndrome, MIM# 620985 Tags
Green Green List (high evidence)	MSL3	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Basilicata-Akhtar syndrome, OMIM # 301032 Tags
Green Green List (high evidence)	MSMO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly, congenital cataract, and psoriasiform dermatitis, MIM# 616834 MONDO:0014793 Tags
Green Green List (high evidence)	MT-ATP6	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-CO2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-ND4	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-TE	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TR	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TS1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TS1-related Tags mtDNA
Green Green List (high evidence)	MT-TS2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TV	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TW	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Disease associations Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 15, MIM# 614947 Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Tags
Green Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport Tags
Green Green List (high evidence)	MTHFS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green Green List (high evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 10 OMIM #614702 Tags
Green Green List (high evidence)	MTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Smith-Kingsmore syndrome, MIM# 616638 Focal cortical dysplasia, type II, somatic, MIM# 607341 Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green Green List (high evidence)	MTRFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations hereditary spastic paraplegia 55 MONDO:0014020 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270 Tags
Green Green List (high evidence)	MTSS2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 Tags new gene name
Green Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyper-IgD syndrome (MIM#260920) Mevalonic aciduria (MIM#610377) Tags
Green Green List (high evidence)	MYCN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Feingold syndrome 1 MIM#164280 Megalencephaly-polydactyly syndrome, MIM# 620748 Tags
Green Green List (high evidence)	MYH10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Tags
Green Green List (high evidence)	MYO5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Griscelli syndrome, type 1 MIM#214450 Tags
Green Green List (high evidence)	MYT1L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 39, MIM# 616521 Tags SV/CNV
Green Green List (high evidence)	NAA10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855 Tags 5'UTR
Green Green List (high evidence)	NAA15	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787 Tags
Green Green List (high evidence)	NAA20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 73, MIM# 619717 Tags
Green Green List (high evidence)	NACC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 Tags
Green Green List (high evidence)	NAE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, MIM# 620210 Tags
Green Green List (high evidence)	NAGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Kanzaki disease, MIM# 609242 Schindler disease, type I and type II 609241 alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 Tags
Green Green List (high evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 Tags
Green Green List (high evidence)	NALCN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, MIM # 615419 Tags
Green Green List (high evidence)	NANS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spondyloepimetaphyseal dysplasia, Camera-Genevieve type - MIM#610442 Tags
Green Green List (high evidence)	NAPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 107 MIM#620033 Tags
Green Green List (high evidence)	NARS1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092 Abnormal muscle tone Microcephaly Global developmental delay Intellectual disability Seizures Ataxia Abnormality of the face Demyelinating peripheral neuropathy Tags new gene name
Green Green List (high evidence)	NAV3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities, MIM# 621182 Tags
Green Green List (high evidence)	NBEA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures Tags
Green Green List (high evidence)	NCAPD2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations ?Microcephaly 21, primary, autosomal recessive OMIM #617983 Tags
Green Green List (high evidence)	NCDN	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with infantile epileptic spasms (NEDIES), MIM#619373 Tags
Green Green List (high evidence)	NCKAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder (MONDO#0700092), NCKAP1-related Tags
Green Green List (high evidence)	NCOR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	NDC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328 Tags
Green Green List (high evidence)	NDE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly with lissencephaly and/or hydranencephaly, MONDO:0700116 Tags
Green Green List (high evidence)	NDP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Norrie disease MONDO:0010691 Tags
Green Green List (high evidence)	NDST1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 46 - MIM#616116 Tags
Green Green List (high evidence)	NDUFA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 Tags
Green Green List (high evidence)	NDUFA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 13, MIM#618235 Tags
Green Green List (high evidence)	NDUFA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial disease, MONDO:0044970,NDUFA3-related Tags
Green Green List (high evidence)	NDUFAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Tags
Green Green List (high evidence)	NDUFB7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 Tags
Green Green List (high evidence)	NDUFS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 1, 252010 Leigh syndrome, MIM#252010 Tags
Green Green List (high evidence)	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224) Tags
Green Green List (high evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 2 MIM#618222 Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NEDD4L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Periventricular nodular heterotopia 7, MIM#617201 Tags
Green Green List (high evidence)	NEMF	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099 Intellectual disability neuropathy Tags
Green Green List (high evidence)	NEU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Sialidosis, type I and type II, MIM# 256550 MONDO:0009738 Tags
Green Green List (high evidence)	NEUROD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 72, MIM# 618374 Intellectual disability Tags
Green Green List (high evidence)	NEUROG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 Tags
Green Green List (high evidence)	NEXMIF	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked 98, MIM# 300912 Tags
Green Green List (high evidence)	NF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurofibromatosis, type 1 (MIM#162200) Tags
Green Green List (high evidence)	NFASC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with central and peripheral motor dysfunction OMIM #618356 Tags
Green Green List (high evidence)	NFIA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Brain malformations with or without urinary tract defects - MIM#613735 Tags
Green Green List (high evidence)	NFIB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Macrocephaly, acquired, with impaired intellectual development, MIM#618286 Tags
Green Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Sotos syndrome 2 (MIM#614753) Marshall-Smith syndrome, MIM# 602535 Tags
Green Green List (high evidence)	NFU1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Tags
Green Green List (high evidence)	NGLY1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of deglycosylation (OMIM 615273) Tags
Green Green List (high evidence)	NHS	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Nance-Horan syndrome - MIM#302350 Cataract 40, X-linked - MIM#302200 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cornelia de Lange syndrome 1, MIM # 122470 Tags
Green Green List (high evidence)	NKAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type, MONDO:0026733, MIM#301039 Tags
Green Green List (high evidence)	NKX2-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags
Green Green List (high evidence)	NLGN3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations X-linked complex neurodevelopmental disorder MONDO:0100148 {Autism susceptibility, X-linked 1} - MIM#300425 Tags
Green Green List (high evidence)	NLGN4X	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked, MIM# 300495 Tags
Green Green List (high evidence)	NONO	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967 Tags
Green Green List (high evidence)	NOTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Tags
Green Green List (high evidence)	NOTCH3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310 Tags
Green Green List (high evidence)	NOVA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability autism hypotonia spasticity ataxia Tags
Green Green List (high evidence)	NPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Niemann-Pick disease, type C1 and type D, MIM# 257220 MONDO:0009757 Tags
Green Green List (high evidence)	NPC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Niemann-pick disease, type C2, MIM# 607625 MONDO:0011873 Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900 Tags
Green Green List (high evidence)	NPHP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Meckel syndrome 7, MIM# 267010 Tags
Green Green List (high evidence)	NPRL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations epilepsy, familial focal, with variable foci 2 (MIM#617116) Tags
Green Green List (high evidence)	NR2F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green Green List (high evidence)	NR2F2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease, MONDO:0002254, NR2F2-related Tags
Green Green List (high evidence)	NR4A2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911 Tags
Green Green List (high evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome 6, MIM# 613224 Tags
Green Green List (high evidence)	NRCAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, MIM# 619833 Tags
Green Green List (high evidence)	NRDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, NRDC-related Tags
Green Green List (high evidence)	NRROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodegeneration intracranial calcification epilepsy Tags
Green Green List (high evidence)	NRXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pitt-Hopkins-like syndrome 2 - MIM#614325 Tags
Green Green List (high evidence)	NSD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Sotos syndrome MONDO:0019349 Tags
Green Green List (high evidence)	NSD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Rauch-Steindl syndrome, MIM# 619695 Microcephaly intellectual disability Neurodevelopmental disorder, NSD2-associated, GoF, MONDO:0700092 Tags
Green Green List (high evidence)	NSDHL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations CK syndrome (MIM#300831) Tags
Green Green List (high evidence)	NSF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 96, MIM# 619340 Seizures EEG with burst suppression Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	NSRP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epilepsy Cerebral palsy microcephaly Intellectual disability Tags
Green Green List (high evidence)	NSUN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 5 - MIM#611091 Tags
Green Green List (high evidence)	NSUN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 48, MIM# 619012 Tags
Green Green List (high evidence)	NSUN6	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 82, MIM# 620779 Tags
Green Green List (high evidence)	NT5C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 45, autosomal recessive, MIM# 613162 MONDO:0013165 Tags
Green Green List (high evidence)	NTNG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual disability autism dysmorphic features Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718 Tags
Green Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Insensitivity to pain, congenital, with anhidrosis - MIM#256800 Tags
Green Green List (high evidence)	NTRK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Obesity, hyperphagia, and developmental delay, MIM# 613886 Tags
Green Green List (high evidence)	NUBPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 Tags
Green Green List (high evidence)	NUDT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder with or without peripheral neuropathy MIM#619844 Tags
Green Green List (high evidence)	NUP188	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities hypoventilation Tags
Green Green List (high evidence)	NUP214	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations {Encephalopathy, acute, infection-induced, susceptibility to, 9}, MIM# 618426 epileptic encephalopathy developmental regression microcephaly Tags
Green Green List (high evidence)	NUS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Mental retardation, autosomal dominant 55, with seizures, MIM# 617831 Tags
Green Green List (high evidence)	OCLN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pseudo-TORCH syndrome 1, MIM#251290 Tags
Green Green List (high evidence)	OCRL	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations oculocerebrorenal syndrome MONDO:0010645 Tags
Green Green List (high evidence)	ODC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with alopecia and brain imaging abnormalities (NEDABIA), MIM#619075 Tags
Green Green List (high evidence)	OFD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	OGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Oxoglutarate dehydrogenase deficiency, MIM# 203740 Tags
Green Green List (high evidence)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment Tags
Green Green List (high evidence)	OGT	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked 106, MIM# 300997 Tags
Green Green List (high evidence)	OLA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, OLA1-related Tags
Green Green List (high evidence)	OPA3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR Optic atrophy 3 with cataract (MIM#165300), AD Tags
Green Green List (high evidence)	OPHN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Tags
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Ornithine transcarbamylase deficiency, MIM#311250 Tags treatable
Green Green List (high evidence)	OTUD5	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056 Tags
Green Green List (high evidence)	OTUD6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green Green List (high evidence)	OTUD7A	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790 Tags SV/CNV
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia, syndromic 5, MIM# 610125 Pituitary hormone deficiency, combined, 6, MIM# 613986 Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125 Otocephaly-dysgnathia complex Tags
Green Green List (high evidence)	OXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual disability seizures cerebellar atrophy Tags
Green Green List (high evidence)	P4HTM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities OMIM #618493 Tags
Green Green List (high evidence)	PABPC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, PABPC1-related (MONDO#0700092) Tags
Green Green List (high evidence)	PACS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Schuurs-Hoeijmakers syndrome (MIM# 615009) Tags
Green Green List (high evidence)	PACS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 66, MIM#618067 Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags SV/CNV
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Phenylketonuria, MIM#261600 Tags treatable
Green Green List (high evidence)	PAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with macrocephaly, seizures, and speech delay OMIM #618158 Tags
Green Green List (high evidence)	PAK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Knobloch 2 syndrome MIM#618458 Tags
Green Green List (high evidence)	PAK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked 30/47, MIM# 300558 Intellectual disability Tags
Green Green List (high evidence)	PALS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Global developmental delay Intellectual disability Delayed speech and language development Developmental regression Behavioral abnormality Tags
Green Green List (high evidence)	PAM16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320 Tags
Green Green List (high evidence)	PAN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384 Tags
Green Green List (high evidence)	PARN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Tags
Green Green List (high evidence)	PARP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability Epilepsy Microcephaly Tags
Green Green List (high evidence)	PAX5	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, PAX5-related Hypogammaglobulinaemia Tags
Green Green List (high evidence)	PAX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia/coloboma 12, OMIM #120200 Tags
Green Green List (high evidence)	PAX8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Tags
Green Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641 Tags
Green Green List (high evidence)	PC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pyruvate carboxylase deficiency - MIM#266150 Tags
Green Green List (high evidence)	PCBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PCBP1-related Tags
Green Green List (high evidence)	PCBP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, PCBP2-related Tags
Green Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Propionicacidemia MIM#606054 Tags treatable
Green Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Propionicacidemia MIM#606054 Tags treatable
Green Green List (high evidence)	PCDH12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM#251280 Tags
Green Green List (high evidence)	PCDH19	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 9 MIM#300088 Tags
Green Green List (high evidence)	PCDHGC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Tags
Green Green List (high evidence)	PCGF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Turnpenny-Fry syndrome, MIM# 618371 Tags
Green Green List (high evidence)	PCLO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Green Green List (high evidence)	PCYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Global developmental delay with regression spastic para- or tetra paresis epilepsy progressive cerebral and cerebellar atrophy Tags
Green Green List (high evidence)	PDCD6IP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly 29, primary, autosomal recessive, MIM# 620047 Tags
Green Green List (high evidence)	PDE10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Tags
Green Green List (high evidence)	PDE1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related Tags
Green Green List (high evidence)	PDE4D	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Acrodysostosis 2, with or without hormone resistance, MIM# 614613 Tags
Green Green List (high evidence)	PDE6D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 22, MIM#615665 Tags
Green Green List (high evidence)	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Kosaki overgrowth syndrome MIM#616592 Tags
Green Green List (high evidence)	PDHA1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Tags
Green Green List (high evidence)	PDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 Tags
Green Green List (high evidence)	PDHX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Lacticacidemia due to PDX1 deficiency MIM#245349 Tags
Green Green List (high evidence)	PDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Tags
Green Green List (high evidence)	PDSS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green Green List (high evidence)	PDZD8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with autism and dysmorphic facies, MIM# 620021 Tags
Green Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Prolidase deficiency MIM#170100 Tags
Green Green List (high evidence)	PET100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags founder
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Heimler syndrome 1 MIM#234580 Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100 Peroxisome biogenesis disorder 1B (NALD/IRD) MIM#601539 Tags
Green Green List (high evidence)	PEX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870 Peroxisome biogenesis disorder 6B MIM#614871 Tags
Green Green List (high evidence)	PEX11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 14B MIM#614920 Tags
Green Green List (high evidence)	PEX12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859 Peroxisome biogenesis disorder 3B MIM#266510 Tags
Green Green List (high evidence)	PEX13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 11A (Zellweger) MIM#614883 Peroxisome biogenesis disorder 11B MIM#614885 Tags
Green Green List (high evidence)	PEX14	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 13A (Zellweger) MIM#614887 peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 Tags
Green Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876 Peroxisome biogenesis disorder 8B MIM#614877 Tags
Green Green List (high evidence)	PEX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886 Tags
Green Green List (high evidence)	PEX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 Peroxisome biogenesis disorder 5B MIM#614867 Tags
Green Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Peroxisome biogenesis disorder 7B MIM614873 Tags
Green Green List (high evidence)	PEX3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Peroxisome biogenesis disorder 10B , MIM# 617370 Tags
Green Green List (high evidence)	PEX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 2A (Zellweger) MIM#214110 Peroxisome biogenesis disorder 2B MIM#202370 Tags
Green Green List (high evidence)	PEX6	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 4A (Zellweger) MIM#614862 Peroxisome biogenesis disorder 4B MIM#614863 Tags
Green Green List (high evidence)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Peroxisome biogenesis disorder 9B MIM#614879 Rhizomelic chondrodysplasia punctata, type 1 MIM#215100 Tags
Green Green List (high evidence)	PGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802 Tags
Green Green List (high evidence)	PGAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Tags
Green Green List (high evidence)	PGAP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Tags
Green Green List (high evidence)	PGBD5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM# 621482 Tags
Green Green List (high evidence)	PGK1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Phosphoglycerate kinase 1 deficiency, MIM# 300653 MONDO:0010392 Tags
Green Green List (high evidence)	PGM2L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder Tags
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PHACTR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 70, MIM# 618298 PHACTR1-associated neurodevelopment disorder Tags
Green Green List (high evidence)	PHF21A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725 Tags
Green Green List (high evidence)	PHF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder (MONDO#0700092), PHF5A-related Tags
Green Green List (high evidence)	PHF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Tags
Green Green List (high evidence)	PHF8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation syndrome, X-linked, Siderius type, MIM#300263 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neu-Laxova syndrome 1 MIM#256520 Phosphoglycerate dehydrogenase deficiency MIM#601815 Tags
Green Green List (high evidence)	PHIP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chung-Jansen syndrome, MIM#617991 Tags
Green Green List (high evidence)	PI4K2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM# 620732 Tags
Green Green List (high evidence)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental syndrome with hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	PIBF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 33, OMIM #617767 Tags
Green Green List (high evidence)	PIDD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827 Tags
Green Green List (high evidence)	PIGA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Neurodevelopmental disorder with epilepsy and haemochromatosis, MIM# 301072 Tags
Green Green List (high evidence)	PIGB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 80, MIM# 618580 Tags
Green Green List (high evidence)	PIGC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 Tags
Green Green List (high evidence)	PIGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917 Tags
Green Green List (high evidence)	PIGH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Glycosylphosphatidylinositol biosynthesis defect 17, MIM#618010 Tags
Green Green List (high evidence)	PIGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879 Tags
Green Green List (high evidence)	PIGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations CHIME syndrome, MIM# 280000, MONDO:0010221 Tags founder SV/CNV
Green Green List (high evidence)	PIGN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Tags
Green Green List (high evidence)	PIGO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Tags
Green Green List (high evidence)	PIGP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 55, 617599 Tags
Green Green List (high evidence)	PIGQ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 77 (MIM #618548) Tags
Green Green List (high evidence)	PIGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Glycosylphosphatidylinositol biosynthesis defect 18, MIM# 618143 Tags
Green Green List (high evidence)	PIGT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 Tags
Green Green List (high evidence)	PIGV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Tags
Green Green List (high evidence)	PIGW	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025 Tags
Green Green List (high evidence)	PIK3C2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Oculoskeletodental syndrome, 618440 Tags
Green Green List (high evidence)	PIK3CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations PIK3CA-related overgrowth spectrum MONDO:1040002 Tags
Green Green List (high evidence)	PIK3R2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387 Tags
Green Green List (high evidence)	PIP5K1C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder (MONDO:0700092), PIP5K1C-related Tags
Green Green List (high evidence)	PISD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual disability cataracts retinal degeneration microcephaly deafness short stature white matter abnormalities no OMIM number yet. Tags
Green Green List (high evidence)	PITRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Infantile neuroaxonal dystrophy 1 MIM#256600 Neurodegeneration with brain iron accumulation 2B MIM#610217 Tags
Green Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green Green List (high evidence)	PLAAT3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green Green List (high evidence)	PLAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Disease associations Syndromic disease, MONDO:0002254, PLAT-related Tags
Green Green List (high evidence)	PLCB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 12 (MIM#613722) Tags SV/CNV
Green Green List (high evidence)	PLK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, PLK1-related, MONDO:0700092 Tags
Green Green List (high evidence)	PLK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 2, MIM# 616171 Tags
Green Green List (high evidence)	PLP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Pelizeaus-Merzbacher spectrum disorder MONDO:0010714 Tags
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290 Tags
Green Green List (high evidence)	PLXNA1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955 Tags
Green Green List (high evidence)	PLXNB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Syndromic disease MONDO:0002254, PLXNB2 -related Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ia MIM#212065 Tags
Green Green List (high evidence)	PMPCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green Green List (high evidence)	PMPCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954 Tags
Green Green List (high evidence)	PNKP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly, seizures, and developmental delay, MIM#613402 Tags
Green Green List (high evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 Tags
Green Green List (high evidence)	PNPLA8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related Tags
Green Green List (high evidence)	PNPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 13, MIM#614932 Tags
Green Green List (high evidence)	POC1A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, MONDO:0013894 Tags
Green Green List (high evidence)	POGZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations White-Sutton syndrome, MIM# 616364 MONDO:0014606 Tags
Green Green List (high evidence)	POLA1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Van Esch-O'Driscoll syndrome OMIM# 301030 Tags
Green Green List (high evidence)	POLG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700 Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459 Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450 Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640 Tags
Green Green List (high evidence)	POLR1A	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Acrofacial dysostosis, Cincinnati type MIM#616462 Leukodystrophy, hypomyelinating, 27, MIM# 620675 Tags
Green Green List (high evidence)	POLR1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Leukodystrophy, hypomyelinating, 11, MIM# 616494 Tags
Green Green List (high evidence)	POLR2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, MIM# 618603 Tags
Green Green List (high evidence)	POLR3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations POLR3A-related disorder MONDO:0700276 Tags
Green Green List (high evidence)	POLR3B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations POLR3B-related disorder MONDO:0700277 Charcot-Marie-Tooth disease, demyelinating, type 1I MIM#619742 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 Tags
Green Green List (high evidence)	POLR3K	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations POLR3-related leukodystrophy MONDO:0700282 Tags
Green Green List (high evidence)	POLRMT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 55, MIM# 619743 intellectual disability hypotonia Tags
Green Green List (high evidence)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations myopathy caused by variation in POMGNT1 MONDO:0700068 Tags
Green Green List (high evidence)	POMGNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations myopathy caused by variation in POMGNT2 MONDO:0700069 Tags
Green Green List (high evidence)	POMK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM#615249 Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations myopathy caused by variation in POMT1 MONDO:0700070 Tags
Green Green List (high evidence)	POMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations myopathy caused by variation in POMT2 MONDO:0700071 Tags
Green Green List (high evidence)	PORCN	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations focal dermal hypoplasia MONDO:0010592 Tags
Green Green List (high evidence)	POU3F2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autism spectrum disorder, NDD, and adolescent-onset obesity neurodevelopmental disorder MONDO:0700092, POU3F2-related Tags
Green Green List (high evidence)	POU3F3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Snijders Blok-Fisher syndrome MIM#618604 Tags
Green Green List (high evidence)	PPFIA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PPFIA2 related Tags
Green Green List (high evidence)	PPFIA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Paul-Chao neurodevelopmental syndrome, MIM# 621122 Tags
Green Green List (high evidence)	PPFIBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, MIM# 620024 Tags
Green Green List (high evidence)	PPIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pontocerebellar hypoplasia, type 14, MIM# 619301 microcephaly seizures Tags
Green Green List (high evidence)	PPM1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Jansen de Vries syndrome (MIM #617450) Tags
Green Green List (high evidence)	PPP1CB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506 Tags
Green Green List (high evidence)	PPP1R12A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Disease associations Genitourinary and/or/brain malformation syndrome MIM#618820 Tags
Green Green List (high evidence)	PPP1R15B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly, short stature, and impaired glucose metabolism 2, MIM# 616817 Tags
Green Green List (high evidence)	PPP1R21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypotonia intellectual disability white matter abnormalities Tags
Green Green List (high evidence)	PPP2CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder and language delay with or without structural brain abnormalities OMIM #618354 Tags
Green Green List (high evidence)	PPP2R1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 36, MIM#616362 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605 Tags
Green Green List (high evidence)	PPP2R5C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Disease associations Houge-Janssens syndrome 4, MIM# 621185 Tags
Green Green List (high evidence)	PPP2R5D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Houge-Janssens syndrome 1, MIM#616355 Tags
Green Green List (high evidence)	PPP3CA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development MIM#618265 Developmental and epileptic encephalopathy 91 MIM617711 Tags
Green Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Ceroid lipofuscinosis, neuronal, 1 MIM#256730 Tags
Green Green List (high evidence)	PQBP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Renpenning syndrome, MIM#309500 Tags
Green Green List (high evidence)	PRDM13	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pontocerebellar hypoplasia, type 17, MIM# 619909 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 Tags founder
Green Green List (high evidence)	PRKACB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Cardioacrofacial dysplasia 2, MIM# 619143 Postaxial hand polydactyly Postaxial foot polydactyly Common atrium Atrioventricular canal defect Narrow chest Abnormality of the teeth Intellectual disability Tags
Green Green List (high evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Acrodysostosis 1, with or without hormone resistance, MIM#101800 Tags
Green Green List (high evidence)	PRKAR1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Marbach-Schaaf neurodevelopmental syndrome MIM#619680 Global developmental delay Intellectual disability Autism Attention deficit hyperactivity disorder Aggressive behavior Abnormality of movement Upslanted palpebral fissure Tags
Green Green List (high evidence)	PRMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PRMT1-related Tags
Green Green List (high evidence)	PRMT7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Short stature, brachydactyly, intellectual developmental disability, and seizures, MIM# 617157 Tags
Green Green List (high evidence)	PRMT9	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PRMT9-related Tags
Green Green List (high evidence)	PRPF19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), PRPF19-related Tags
Green Green List (high evidence)	PRPF8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, PRPF8-related Retinitis pigmentosa 13 - MIM#600059 Tags
Green Green List (high evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations PRPS1 deficiency disorder MONDO:0100061 Tags
Green Green List (high evidence)	PRR12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neuroocular syndrome, MIM#619539 Intellectual disability Iris abnormalities Complex microphthalmia Tags
Green Green List (high evidence)	PRUNE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies , MIM#617481 Tags
Green Green List (high evidence)	PSAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900 Tags
Green Green List (high evidence)	PSMC3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ebstein-Bezieau neurodevelopmental syndrome, MIM# 621539 Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354 Tags
Green Green List (high evidence)	PSMC5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Yu-Kury neurodevelopmental syndrome, MIM# 621565 Tags
Green Green List (high evidence)	PSMD11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PSMD11-related Tags
Green Green List (high evidence)	PSMD12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Stankiewicz-Isidor syndrome, MIM# 617516 Tags
Green Green List (high evidence)	PSMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Tags
Green Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Phosphoserine phosphatase deficiency MIM#614023 Tags
Green Green List (high evidence)	PTBP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations STAD syndrome, MIM# 621495 Tags
Green Green List (high evidence)	PTCD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Combined oxidative phosphorylation deficiency-51, MIM#619057 Intellectual disability optic atrophy Leigh-like syndrome Tags
Green Green List (high evidence)	PTCH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Holoprosencephaly 7, MIM# 610828 Tags
Green Green List (high evidence)	PTCHD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations non-syndromic X-linked intellectual disability MONDO:0019181 Tags
Green Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Lenz-Majewski hyperostotic dwarfism MIM#151050 Tags
Green Green List (high evidence)	PTEN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cowden syndrome 1 MIM#158350 Macrocephaly/autism syndrome MIM#605309 PTEN hamartoma tumor syndrome MONDO:0017623 Tags
Green Green List (high evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pancreatic and cerebellar agenesis, MIM# 609069 Tags
Green Green List (high evidence)	PTPMT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199 Tags
Green Green List (high evidence)	PTPN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome 1, MIM#163950 AD LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines) Tags
Green Green List (high evidence)	PTPN23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability brain abnormalities seizures optic atrophy microcephaly Tags
Green Green List (high evidence)	PTPN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PTPN4-related Tags
Green Green List (high evidence)	PTRH2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263 Tags
Green Green List (high evidence)	PTRHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, MIM# 620747 Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperphenylalaninaemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Verheij syndrome, MIM# 615583 Tags
Green Green List (high evidence)	PUM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM# 620719 Tags
Green Green List (high evidence)	PURA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158) Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green Green List (high evidence)	PUS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with microcephaly and gray sclerae, MIM# 617051 Tags
Green Green List (high evidence)	PUS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM #618342 Tags
Green Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cutis laxa, autosomal recessive, type IIB, MIM# 612940 Cutis laxa, autosomal recessive, type IIIB, MIM# 614438 Tags
Green Green List (high evidence)	PYCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Leukodystrophy, hypomyelinating, 10, MIM# 616420 Tags
Green Green List (high evidence)	QARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Tags treatable
Green Green List (high evidence)	QRICH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Ververi-Brady syndrome, MIM#617982 Tags
Green Green List (high evidence)	RAB11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, RAB11A-related Tags
Green Green List (high evidence)	RAB11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green Green List (high evidence)	RAB18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Warburg micro syndrome 3, MIM# 614222 Tags founder
Green Green List (high evidence)	RAB1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, RAB1A-related Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Carpenter syndrome (MIM#201000) Tags
Green Green List (high evidence)	RAB39B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 72, OMIM:300271 Waisman syndrome, OMIM:311510 Tags
Green Green List (high evidence)	RAB3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	RAB3GAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 Tags
Green Green List (high evidence)	RAB3GAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Martsolf syndrome (MIM212720) Warburg micro syndrome 2 (MIM#614225) Tags
Green Green List (high evidence)	RAB5C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags
Green Green List (high evidence)	RABGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092 Tags
Green Green List (high evidence)	RAC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal dominant 48 MIM#617751 Tags
Green Green List (high evidence)	RAC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577 Tags
Green Green List (high evidence)	RAD21	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cornelia de Lange syndrome 4, MIM # 614701 Tags
Green Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome 5, MIM# 611553 Tags
Green Green List (high evidence)	RAI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Smith-Magenis syndrome (MIM#182290) Tags
Green Green List (high evidence)	RALA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311 Intellectual disability short stature dysmorphism Tags
Green Green List (high evidence)	RALGAPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797 Tags
Green Green List (high evidence)	RAP1B	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Tags
Green Green List (high evidence)	RAP1GDS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Alfadhel syndrome, MIM# 620655 Tags
Green Green List (high evidence)	RAPGEF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 amyotrophic lateral sclerosis MONDO:0004976 Tags STR
Green Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia, syndromic 12, MIM# 615524 Tags
Green Green List (high evidence)	RARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Leukodystrophy, hypomyelinating, 9 MIM# 616140 Tags
Green Green List (high evidence)	RARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 6, MIM# 611523 Tags
Green Green List (high evidence)	RBBP5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092, RBBP5-related Tags
Green Green List (high evidence)	RBBP8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744 Tags
Green Green List (high evidence)	RBFOX1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder (MONDO:0700092), RBFOX1-related Tags
Green Green List (high evidence)	RBL2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual disability Brunet-Wagner neurodevelopmental syndrome MIM#619690 Tags
Green Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations TARP syndrome, 311900 (3), X-linked recessive Tags
Green Green List (high evidence)	RBSN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937 Tags
Green Green List (high evidence)	RDH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Tags
Green Green List (high evidence)	RELN	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Lissencephaly 2 (Norman-Roberts type), MIM# 257320 Tags
Green Green List (high evidence)	RERE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green Green List (high evidence)	RFC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, RFC4-related Tags
Green Green List (high evidence)	RFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type In, MIM# 612015 RFT1-CDG, MONDO:0012783 Tags
Green Green List (high evidence)	RFX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations RFX3-related neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	RFX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations RFX4-related neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	RFX7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330 Tags
Green Green List (high evidence)	RHEB	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder MONDO:0700092, RHEB-related Intellectual disability Macrocephaly Focal cortical dysplasia Tags
Green Green List (high evidence)	RHOBTB2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 64, MIM#618004 Tags
Green Green List (high evidence)	RICTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, RICTOR-related Tags
Green Green List (high evidence)	RING1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	RIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome 8, MIM# 615355 Tags
Green Green List (high evidence)	RLIM	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Tonne-Kalscheuer syndrome, MIM# 300978 Tags
Green Green List (high evidence)	RMND1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green Green List (high evidence)	RNASEH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green Green List (high evidence)	RNF113A	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations ?Trichothiodystrophy 5, nonphotosensitive OMIM #300953 Tags
Green Green List (high evidence)	RNF125	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Tenorio syndrome - MIM# 616260 Tags
Green Green List (high evidence)	RNF13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 73 618379 Tags
Green Green List (high evidence)	RNF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Lou-Schoch-Yamamoto syndrome , MIM#619460 epilepsy intellectual disability intrauterine growth retardation Tags
Green Green List (high evidence)	RNF220	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Disease associations Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags
Green Green List (high evidence)	RNPC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Growth hormone deficiency Intellectual disability Tags
Green Green List (high evidence)	RNU2-2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 119, MIM# 621304 Tags new gene name non-coding gene
Green Green List (high evidence)	RNU4-2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language, MIM# 620851 Tags non-coding gene
Green Green List (high evidence)	RNU4ATAC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710 Roifman syndrome, MIM#616651 Tags non-coding gene
Green Green List (high evidence)	RNU5B-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with seizures and joint laxity, MIM# 621302 Tags
Green Green List (high evidence)	RNU6ATAC	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mendez-Johnson immunoneurologic syndrome, MIM# 621585 Tags non-coding gene
Green Green List (high evidence)	RNU7-1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Aicardi-Goutieres syndrome 9, MIM# 619487 Tags non-coding gene
Green Green List (high evidence)	ROBO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurooculorenal syndrome, MIM# 620305 Tags
Green Green List (high evidence)	ROGDI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Kohlschutter-Tonz syndrome, MIM# 226750 Tags
Green Green List (high evidence)	ROR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Robinow syndrome, autosomal recessive, MIM#268310 Tags
Green Green List (high evidence)	RORA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM#618060 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 Tags
Green Green List (high evidence)	RPH3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Tags
Green Green List (high evidence)	RPIA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Ribose 5-phosphate isomerase deficiency, MIM 608611 Tags
Green Green List (high evidence)	RPL10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked, syndromic, 35 (MIM#300998) Tags
Green Green List (high evidence)	RPS4X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, RPS4X-related Tags
Green Green List (high evidence)	RPS6KA3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Lowry syndrome MIM# 303600 Tags
Green Green List (high evidence)	RPS6KC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460 Tags
Green Green List (high evidence)	RRAS2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Noonan syndrome 12 MIM#618624 Tags
Green Green List (high evidence)	RREB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Rasopathy, MONDO:0021060, RREB1-related Tags
Green Green List (high evidence)	RRM2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green Green List (high evidence)	RSF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, RSF1-related Tags
Green Green List (high evidence)	RSPRY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723 Tags
Green Green List (high evidence)	RSRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal recessive 70, MIM# 618402 Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Dyskeratosis congenita, autosomal recessive 5, MIM#615190 Tags
Green Green List (high evidence)	RTF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, RTF1-related Tags
Green Green List (high evidence)	RTN4IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732 Tags
Green Green List (high evidence)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly, short stature, and polymicrogyria with seizures, MIM# 614833 Microcephalic primordial dwarfism due to RTTN deficiency MONDO:0018764 Tags
Green Green List (high evidence)	RUNX1T1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, RUNX1T1-related Tags
Green Green List (high evidence)	RXYLT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Tags new gene name
Green Green List (high evidence)	RYBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, RYBP-related Tags
Green Green List (high evidence)	SAMD9	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations MIRAGE Syndrome, MIM#617053 Tags
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SARS1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO#070009, SARS1-related Tags
Green Green List (high evidence)	SARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845 Tags
Green Green List (high evidence)	SART3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder (MONDO#0700092), SART3-related, with 46,XY gonadal dysgenesis Tags
Green Green List (high evidence)	SASS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Microcephaly 14, primary, autosomal recessive, MIM# 616402 Tags
Green Green List (high evidence)	SATB1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Kohlschutter-Tonz syndrome-like, MIM# 619229 Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 Neurodevelopmental disorder intellectual disability epilepsy microcephaly Tags
Green Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green Green List (high evidence)	SBF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Charcot-Marie-Tooth disease, type 4B3, MIM# 615284 MONDO:0014117 Tags
Green Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Lathosterolosis, MIM#607330 Tags
Green Green List (high evidence)	SCAF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Disease associations Fliedner-Zweier syndrome, MIM#620511 Tags
Green Green List (high evidence)	SCAMP5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related Tags
Green Green List (high evidence)	SCAPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder and retinitis pigmentosa OMIM #618195 Tags
Green Green List (high evidence)	SCN1A	1 review 1 green	Unknown	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Tags
Green Green List (high evidence)	SCN1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 52, MIM#617350 Tags
Green Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Green Green List (high evidence)	SCN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Epilepsy, familial focal, with variable foci 4, MIM# 617935 Epileptic encephalopathy, early infantile, 62, MIM# 617938 Intellectual disability Malformations of cortical development Tags
Green Green List (high evidence)	SCN8A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 13, MIM# 614558 Tags
Green Green List (high evidence)	SCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green Green List (high evidence)	SCYL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM# 618766 Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green Green List (high evidence)	SDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex II deficiency, nuclear type 1 MIM#252011 Tags
Green Green List (high evidence)	SDHAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green Green List (high evidence)	SEC31A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Halperin-Birk syndrome, MIM# 618651 Tags
Green Green List (high evidence)	SECISBP2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Thyroid hormone metabolism, abnormal, 1, MIM# 609698 Tags
Green Green List (high evidence)	SEL1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068 Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067 Tags
Green Green List (high evidence)	SELENOI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spastic paraplegia 81, autosomal recessive, MIM# 618768 Tags
Green Green List (high evidence)	SEMA6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability, MONDO:0001071, SEMA6B related Tags
Green Green List (high evidence)	SEPHS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Ververi-Brady syndrome 2, MIM# 621325 Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia type 2D, MIM#613811 Tags
Green Green List (high evidence)	SEPTIN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SEPTIN2-related Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739 Tags
Green Green List (high evidence)	SET	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal dominant 58, MIM#618106 intellectual disability, autosomal dominant 58, MONDO:0020847 Tags
Green Green List (high evidence)	SETBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Schinzel-Giedion syndrome MONDO:0010010 complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	SETD1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Epilepsy, early-onset, with or without developmental delay, MIM# 618832 Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056 Tags
Green Green List (high evidence)	SETD1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with seizures and language delay (IDDSELD), MIM#619000 Tags
Green Green List (high evidence)	SETD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Luscan-Lumish syndrome, MIM#616831 Rabin-Pappas syndrome,MIM# 620155 Intellectual developmental disorder, autosomal dominant 70, MIM# 620157 Tags
Green Green List (high evidence)	SETD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability, autosomal dominant 23 (MIM # 615761) Tags
Green Green List (high evidence)	SF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SF1-related Tags
Green Green List (high evidence)	SF3B1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations complex neurodevelopmental disorder MONDO:0100038, SF3B1-related Tags
Green Green List (high evidence)	SFXN4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 18, MIM#615578 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SGSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 MONDO:0009655 Tags
Green Green List (high evidence)	SGSM3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal recessive 84, MIM# 620401 Tags founder
Green Green List (high evidence)	SHANK1	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder, MONDO:0700092, SHANK1-related Tags
Green Green List (high evidence)	SHANK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Autism, susceptibility to, 17, MIM#613436 complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	SHANK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags SV/CNV
Green Green List (high evidence)	SHH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Holoprosencephaly 3 (MIM#142945) Tags
Green Green List (high evidence)	SHMT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome-like with loose anagen hair 1, MIM# 607721 Tags
Green Green List (high evidence)	SIAH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Buratti-Harel syndrome, MIM# 619314 Developmental delay Infantile hypotonia Dysmorphic features Laryngomalacia Tags
Green Green List (high evidence)	SIK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 30, MIM#616341 developmental and epileptic encephalopathy, MONDO#0100062 Tags
Green Green List (high evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Marinesco-Sjogren syndrome (MIM#248800) Tags
Green Green List (high evidence)	SIN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Witteveen-Kolk syndrome, OMIM # 613406 Tags
Green Green List (high evidence)	SIN3B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SIN3B-related Tags
Green Green List (high evidence)	SIX3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Holoprosencephaly 2, autosomal dominant, MIM#157170 Tags
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Shprintzen-Goldberg syndrome, MIM# 182212 Neurodevelopmental disorder, MONDO:0700092, SKI-related Tags
Green Green List (high evidence)	SKIC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations trichohepatoenteric syndrome 1 MONDO:0024541 Tags
Green Green List (high evidence)	SKOR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Valence-Farazi cerebellar ataxia syndrome, MIM# 621386 Tags
Green Green List (high evidence)	SLC12A2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Delpire-McNeill syndrome, MIM# 619083 Kilquist syndrome, MIM#619080 deafness intellectual disability dysmorphic features absent salivation ectodermal dysplasia constipation intestinal malrotation multiple congenital anomalies Tags
Green Green List (high evidence)	SLC12A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 34, MIM# 616645 Tags
Green Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000 Tags
Green Green List (high evidence)	SLC12A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SLC12A9-related Tags
Green Green List (high evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green Green List (high evidence)	SLC16A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Allan-Herndon-Dudley syndrome, MIM# 300523 Tags
Green Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Sialic acid storage disorder, infantile, MIM# 269920 Tags
Green Green List (high evidence)	SLC18A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Epileptic encephalopathy, early infantile, 41, MIM#617105 Intellectual disability Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 MONDO:0014725 Tags founder
Green Green List (high evidence)	SLC25A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 Tags
Green Green List (high evidence)	SLC25A12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 Tags
Green Green List (high evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 3, MIM# 609304 Tags
Green Green List (high evidence)	SLC2A1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations GLUT1-deficiency syndrome, MONDO:0000188 Dystonia 9 601042 GLUT1 deficiency syndrome 1, infantile onset, severe 606777 GLUT1 deficiency syndrome 2, childhood onset 612126 Stomatin-deficient cryohydrocytosis with neurologic defects 608885 Tags
Green Green List (high evidence)	SLC30A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Birk-Landau-Perez syndrome (MIM#617595) Tags
Green Green List (high evidence)	SLC31A1	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodegeneration and seizures due to copper transport defect, MIM# 620306 Tags
Green Green List (high evidence)	SLC32A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755 Developmental and epileptic encephalopathy 114, MIM# 620774 Tags
Green Green List (high evidence)	SLC33A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482 Tags
Green Green List (high evidence)	SLC35A2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854 Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) Tags somatic
Green Green List (high evidence)	SLC35C1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green Green List (high evidence)	SLC38A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 102, MIM# 619881 Tags
Green Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypermanganesemia with dystonia 2 (MIM# 617013) Tags
Green Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIn , MIM#616721 Tags
Green Green List (high evidence)	SLC45A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with neuropsychiatric features, MIM# 617532 Tags
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC4A10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Tags
Green Green List (high evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278 Tags
Green Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental delay epilepsy neurodegeneration Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green Green List (high evidence)	SLC6A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Myoclonic-atonic epilepsy, MIM#616421 Tags
Green Green List (high evidence)	SLC6A17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 48, MIM# 616269 Tags
Green Green List (high evidence)	SLC6A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hartnup disorder, MIM# 234500 Tags
Green Green List (high evidence)	SLC6A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Parkinsonism-dystonia, infantile, 1, MIM# 613135 Tags
Green Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green Green List (high evidence)	SLC6A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Glycine encephalopathy with normal serum glycine 617301 Tags
Green Green List (high evidence)	SLC9A6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 MONDO:0010278 Tags
Green Green List (high evidence)	SLF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Atelis syndrome 1, MIM# 620184 Tags
Green Green List (high evidence)	SLITRK2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked 111, MIM# 301107 Tags
Green Green List (high evidence)	SLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SLK-related Tags
Green Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Myhre syndrome MIM#139210 Tags
Green Green List (high evidence)	SMAD6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Tags
Green Green List (high evidence)	SMARCA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SMARCA1-related Tags
Green Green List (high evidence)	SMARCA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Nicolaides-Baraitser syndrome, MIM #601358 Blepharophimosis-intellectual disability syndrome, MIM#619293 Tags
Green Green List (high evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Siris syndrome 4 (MIM# 614609) Tags
Green Green List (high evidence)	SMARCA5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, SMARCA5-related Tags
Green Green List (high evidence)	SMARCB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Siris syndrome 3 (MIM# 614608) MONDO:0015452 Tags
Green Green List (high evidence)	SMARCC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123) Tags
Green Green List (high evidence)	SMARCC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Coffin-Siris syndrome 8 OMIM #618362 Tags
Green Green List (high evidence)	SMARCD1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, SMARCD1-related Tags
Green Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Coffin-Siris syndrome 5, MIM# 616938 Tags
Green Green List (high evidence)	SMC1A	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Cornelia de Lange syndrome 2 MONDO:0010370 Tags
Green Green List (high evidence)	SMC3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cornelia de Lange syndrome 3 MONDO:0012555 Tags
Green Green List (high evidence)	SMC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Atelis syndrome 2, MIM# 620185 Tags
Green Green List (high evidence)	SMG8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Alzahrani-Kuwahara syndrome, MIM# 619268 Intellectual disability Tags
Green Green List (high evidence)	SMG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Heart and brain malformation syndrome, MIM# 616920 Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM# 619995 Tags
Green Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia with limb anomalies, MIM# 206920 Tags
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Tags
Green Green List (high evidence)	SMPD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Severe neurodevelopmental delay, microcephaly, arthrogryposis Tags
Green Green List (high evidence)	SMS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583 Syndromic X-linked intellectual disability Snyder type, MONDO:0010664 Tags
Green Green List (high evidence)	SNAP25	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations ?Myasthenic syndrome, congenital, 18 OMIM #616330 Tags
Green Green List (high evidence)	SNAP29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) Tags
Green Green List (high evidence)	SNAPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, MIM# 620515 Tags
Green Green List (high evidence)	SNAPIN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393 Tags
Green Green List (high evidence)	SNF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 115, MIM#620783 Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Tags
Green Green List (high evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebrocostomandibular syndrome, MIM# 117650 Tags
Green Green List (high evidence)	SNW1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), SNW1-related Tags
Green Green List (high evidence)	SNX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Tags
Green Green List (high evidence)	SNX27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder MONDO:0700092, SNX27-related Tags
Green Green List (high evidence)	SOD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic tetraplegia and axial hypotonia, progressive, MIM#618598 Tags
Green Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations ZTTK syndrome, MIM# 617140 Tags
Green Green List (high evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Noonan syndrome 4, MIM# 610733 Tags
Green Green List (high evidence)	SOS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Noonan syndrome 9, MIM# 616559 Tags
Green Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease, OMIM #609136 Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584) Tags
Green Green List (high evidence)	SOX11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, MIM# 615866 Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green Green List (high evidence)	SOX4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Coffin-Siris syndrome 10 OMIM #618506 Tags
Green Green List (high evidence)	SOX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Lamb-Shaffer syndrome, MIM#616803 Tags SV/CNV
Green Green List (high evidence)	SOX6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations ADHD Craniosynostosis Osteochondromas Tolchin-Le Caignec syndrome, MIM#618971 Tags
Green Green List (high evidence)	SP9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	SPART	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Troyer syndrome, MIM# 275900 SPG20 MONDO:0010156 Tags
Green Green List (high evidence)	SPECC1L	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Teebi hypertelorism syndrome 1, MIM# 145420 Tags
Green Green List (high evidence)	SPEN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Radio-Tartaglia syndrome, MIM# 619312 Intellectual disability autism congenital anomalies Tags
Green Green List (high evidence)	SPG11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 11, autosomal recessive 604360 Tags
Green Green List (high evidence)	SPNS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lysosomal disorder, SPNS1-related, MONDO:0002561 Tags
Green Green List (high evidence)	SPOP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Nabais Sa-de Vries syndrome, type 1 MIM#618828 Nabais Sa-de Vries syndrome, type 2, MIM#618829 Tags
Green Green List (high evidence)	SPOUT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, MIM# 621154 Tags
Green Green List (high evidence)	SPR	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
Green Green List (high evidence)	SPRED1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Legius syndrome, MIM# 611431 Tags
Green Green List (high evidence)	SPRED2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Noonan syndrome 14, MIM# 619745 Tags
Green Green List (high evidence)	SPTAN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 5, MIM# 613477 Tags
Green Green List (high evidence)	SPTBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Tags
Green Green List (high evidence)	SPTBN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Spinocerebellar ataxia 5, MIM# 600224 Tags
Green Green List (high evidence)	SPTBN4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green Green List (high evidence)	SRCAP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Floating-Harbor syndrome MIM#136140 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595 Tags
Green Green List (high evidence)	SRD5A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Iq, MIM#612379 Kahrizi syndrome, MIM# 612713 Tags
Green Green List (high evidence)	SRPK3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked, 114, MIM#301134 Tags
Green Green List (high evidence)	SRRM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SRRM1-related Tags
Green Green List (high evidence)	SRRM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 Tags
Green Green List (high evidence)	SRRM4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SRRM4-related Tags
Green Green List (high evidence)	SRSF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489 Tags
Green Green List (high evidence)	SSPOP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SSPOP-related Tags new gene name
Green Green List (high evidence)	SSR4	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Iy, MIM# 300934 Tags
Green Green List (high evidence)	ST3GAL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability, autosomal recessive 12 MIM# 611090 Tags
Green Green List (high evidence)	ST3GAL5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Salt and pepper developmental regression syndrome 609056 GM3 synthase deficiency, MONDO:0018274 Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Tags founder
Green Green List (high evidence)	STAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 47, MIM# 617635 Tags
Green Green List (high evidence)	STAG2	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Mullegama-Klein-Martinez syndrome, MIM#301022 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STEEP1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, X-linked 107, MIM# 301013 Tags new gene name
Green Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 7, primary, autosomal recessive, MIM# 612703 MONDO:0012989 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Matthew-Wood syndrome MONDO:0011010 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM# 611087 Tags
Green Green List (high evidence)	STT3A	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Congenital disorder of glycosylation, type Iw, AR, OMIM #615596 Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Tags
Green Green List (high evidence)	STX1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder MONDO#0700092, STX1A-related Tags
Green Green List (high evidence)	STX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Green Green List (high evidence)	STXBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations developmental and epileptic encephalopathy, 4 MONDO:0012812 Tags
Green Green List (high evidence)	SUCLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM #612073 Tags
Green Green List (high evidence)	SUCLG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 Tags
Green Green List (high evidence)	SUCO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Syndromic disease (MONDO:0002254), SUCO-related Tags
Green Green List (high evidence)	SUFU	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related Tags
Green Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Multiple sulfatase deficiency OMIM #272200 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations isolated sulfite oxidase deficiency MONDO:0010089 Tags
Green Green List (high evidence)	SUPT16H	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480 Intellectual disability Abnormality of the corpus callosum Tags
Green Green List (high evidence)	SUPT4H1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Syndromic disease, MONDO:0002254, SUPT4H1-related Tags
Green Green List (high evidence)	SURF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Tags
Green Green List (high evidence)	SUZ12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Imagawa-Matsumoto syndrome, MIM# 618786 Intellectual disability Overgrowth Tags
Green Green List (high evidence)	SVBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MIM #618569 Spastic paraplegia 94, autosomal recessive, MIM# 621150 Tags founder
Green Green List (high evidence)	SYN1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations X-linked complex neurodevelopmental disorder MONDO:0100148 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339 Tags
Green Green List (high evidence)	SYNCRIP	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags
Green Green List (high evidence)	SYNGAP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability, autosomal dominant 5 (MIM # 612621) Tags
Green Green List (high evidence)	SYNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 53, MIM# 617389 Tags
Green Green List (high evidence)	SYP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 96, MIM# 300802 Tags
Green Green List (high evidence)	SYT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Baker-Gordon syndrome, MIM# 618218 MONDO:0033864 Tags
Green Green List (high evidence)	SZT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Congenital heart defects, multiple types, 2 MONDO:0014000 Tags
Green Green List (high evidence)	TAF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked, syndromic 33, MIM# 300966 Tags
Green Green List (high evidence)	TAF1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), TAF1C-related Tags
Green Green List (high evidence)	TAF2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual development disorder, autosomal recessive 40, MIM# 615599 Tags
Green Green List (high evidence)	TAF4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 Tags
Green Green List (high evidence)	TAF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Alazami-Yuan syndrome, MIM# 617126 Tags
Green Green List (high evidence)	TAF8	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM# 619972 Tags
Green Green List (high evidence)	TAFAZZIN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Barth syndrome MONDO:0010543 Tags
Green Green List (high evidence)	TANC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual disability autism epilepsy dysmorphism Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MONDO:0014812 Tags
Green Green List (high evidence)	TAOK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental delay with or without intellectual impairment or behavioural abnormalities, MIM#619575 Intellectual disability hypotonia macrocephaly Tags
Green Green List (high evidence)	TAOK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, MONDO:0700092, TAOK2-related Tags
Green Green List (high evidence)	TARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 21, MIM# 615918 Epilepsy Developmental Delay Tags
Green Green List (high evidence)	TASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental delay microcephaly dysmorphic features congenital abnormalities Suleiman-El-Hattab syndrome, MIM#618950 Tags
Green Green List (high evidence)	TAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations tyrosinemia type II MONDO:0010160 Tags treatable
Green Green List (high evidence)	TBC1D20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Warburg micro syndrome 4 OMIM #615663 Tags
Green Green List (high evidence)	TBC1D23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 11, MIM# 617695 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 16, MIM# 615338 DOORS syndrome, MIM# 220500 Tags
Green Green List (high evidence)	TBC1D2B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323 Global developmental delay Intellectual disability Seizures Gingival overgrowth Behavioral abnormality Abnormality of the mandible Abnormality of brain morphology Abnormality of the eye Hearing abnormality Tags
Green Green List (high evidence)	TBC1D32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Orofacial digital syndrome type IX, MIM#258865 Tags
Green Green List (high evidence)	TBC1D7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Macrocephaly/megalencephaly syndrome, autosomal recessive, MIM# 248000 Tags
Green Green List (high evidence)	TBCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Green Green List (high evidence)	TBCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Encephalopathy, progressive, with amyotrophy and optic atrophy MIM:617207 Hypoparathyroidism-retardation-dysmorphism syndrome MIM:241410 Tags
Green Green List (high evidence)	TBCK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900 Tags
Green Green List (high evidence)	TBL1XR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Green Green List (high evidence)	TBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder with autism and speech delay, MIM# 606053 Tags
Green Green List (high evidence)	TBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations DiGeorge syndrome, MIM# 188400 Tags SV/CNV
Green Green List (high evidence)	TCEAL1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094 Tags
Green Green List (high evidence)	TCF20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430 Tags
Green Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Pitt-Hopkins syndrome MONDO:0012589 Tags
Green Green List (high evidence)	TCF7L2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TCF7L2-related Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Transcobalamin II deficiency, 275350 Tags
Green Green List (high evidence)	TCP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021 Tags
Green Green List (high evidence)	TCTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 13, MIM# 614173 MONDO:0013608 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 24, MIM# 616654 MONDO:0014724 Tags
Green Green List (high evidence)	TCTN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Joubert syndrome 18, OMIM #614815 Orofaciodigital syndrome IV, OMIM #258860 Tags
Green Green List (high evidence)	TDP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spinocerebellar ataxia, autosomal recessive 23 OMIM #616949 Tags
Green Green List (high evidence)	TECPR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 49, autosomal recessive, 615031 Autonomic-sensory neuropathy Intellectual disability Tags
Green Green List (high evidence)	TEDC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Primary microcephaly, MONDO:0016660 Tags new gene name
Green Green List (high evidence)	TEFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations You-Hoover-Fong syndrome, MIM#616954 Syndromic intellectual disability Tags
Green Green List (high evidence)	TENM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microphthalmia, syndromic 15, MIM#615145 coloboma Tags
Green Green List (high evidence)	TERT	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Dyskeratosis congenita, autosomal dominant 2, OMIM #613989 Dyskeratosis congenita, autosomal recessive 4, OMIM #613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742 Tags
Green Green List (high evidence)	TET3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Beck-Fahrner syndrome MIM#618798 Tags
Green Green List (high evidence)	TFE3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066 Intellectual disability Epilepsy Coarse facial features Tags
Green Green List (high evidence)	TGIF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Holoprosencephaly 4, MIM# 142946 MONDO:0007734 Tags
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Segawa syndrome, recessive MIM#605407 Tags treatable
Green Green List (high evidence)	THOC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked 12/35 MIM#300957 Tags
Green Green List (high evidence)	THOC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Beaulieu-Boycott-Innes syndrome, MIM# 613680 Tags
Green Green List (high evidence)	THRA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Hypothyroidism congenital nongoitrous 6 (MIM 614450) Tags
Green Green List (high evidence)	THUMPD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Syndromic disease, MONDO:0002254, THUMPD1-related Tags
Green Green List (high evidence)	TIAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Tags
Green Green List (high evidence)	TIMM50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations 3-methylglutaconic aciduria, type IX, MIM#617698 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Revesz syndrome, MIM# 268130 Tags
Green Green List (high evidence)	TLK2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability, MIM 618050 Neurodevelopmental disease Tags
Green Green List (high evidence)	TM2D3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurocardiorenal malformation syndrome, MIM# 621379 Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980 cerebrofaciothoracic dysplasia MONDO:0008952 Tags
Green Green List (high evidence)	TMEM106B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Leukodystrophy, hypomyelinating, 16 (MIM #617964) Tags
Green Green List (high evidence)	TMEM147	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, MIM# 620075 Tags
Green Green List (high evidence)	TMEM161B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TMEM161B-related Tags
Green Green List (high evidence)	TMEM163	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Hypomyelinating leukodystrophy, MONDO:0019046 Tags
Green Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green Green List (high evidence)	TMEM167A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly, epilepsy, and diabetes syndrome MONDO:0100328, TMEM167A-related Tags
Green Green List (high evidence)	TMEM184B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), TMEM184B-related Tags
Green Green List (high evidence)	TMEM216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 2 MONDO:0011963 Tags
Green Green List (high evidence)	TMEM218	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Joubert syndrome 39, MIM#619562 Tags
Green Green List (high evidence)	TMEM222	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470 Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags
Green Green List (high evidence)	TMEM237	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Spinocerebellar ataxia 21, MIM# 607454 spinocerebellar ataxia type 21 MONDO:0011833 Tags
Green Green List (high evidence)	TMEM63B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 118, MIM# 621250 Tags
Green Green List (high evidence)	TMEM63C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spastic paraplegia 87, autosomal recessive, MIM# 619966 Tags
Green Green List (high evidence)	TMEM67	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 COACH syndrome 1, MIM# 216360 Tags
Green Green List (high evidence)	TMEM70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052 Tags
Green Green List (high evidence)	TMEM94	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 Tags
Green Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Lissencephaly 8 (MIM#617255) Tags
Green Green List (high evidence)	TMX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Microcephaly ID brain malformations Tags
Green Green List (high evidence)	TNPO2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556 Tags
Green Green List (high evidence)	TNR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653 Spastic para- or tetraparesis Axial muscular hypotonia Intellectual disability Transient opisthotonus Tags
Green Green List (high evidence)	TNRC6B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Global developmental delay with speech and behavioural abnormalities, MIM# 619243 Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 7, MIM# 614969 Tags
Green Green List (high evidence)	TOGARAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Joubert syndrome 37, MIM# 619185 Tags
Green Green List (high evidence)	TOP2B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Intellectual disability (MONDO:0001071), TOP2B-related B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296 Tags
Green Green List (high evidence)	TP73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466 Intellectual disability lissencephaly Tags
Green Green List (high evidence)	TPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270 Tags
Green Green List (high evidence)	TPP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TRA2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Ramond-Elliott neurodevelopmental syndrome, MIM# 621421 Tags
Green Green List (high evidence)	TRAF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Cardiac, facial, and digital anomalies with developmental delay OMIM #618164 Tags
Green Green List (high evidence)	TRAIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Seckel syndrome 9, MIM#616777 Tags
Green Green List (high evidence)	TRAK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 68, MIM# 618201 Tags
Green Green List (high evidence)	TRAPPC10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, short stature, and speech delay, MIM# 620027 Tags
Green Green List (high evidence)	TRAPPC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM #615356 Tags
Green Green List (high evidence)	TRAPPC12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669 Tags
Green Green List (high evidence)	TRAPPC2L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder - MONDO:0700092, TRAPPC2L-related Tags founder
Green Green List (high evidence)	TRAPPC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741 Tags
Green Green List (high evidence)	TRAPPC6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 Tags
Green Green List (high evidence)	TRAPPC9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual disability, autosomal recessive 13 (MIM# 613192) Tags SV/CNV
Green Green List (high evidence)	TREX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Aicardi-Goutieres syndrome MONDO:0018866 Tags
Green Green List (high evidence)	TRIM71	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Congenital hydrocephalus 4 (MIM#618667) Tags
Green Green List (high evidence)	TRIM8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures FSGS Tags
Green Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 44, MIM# 617061 Tags
Green Green List (high evidence)	TRIP12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation autosomal dominant 49, Clark-Baraitser Syndrome, MIM#617752 Tags
Green Green List (high evidence)	TRIT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 35, MIM#617873 Tags
Green Green List (high evidence)	TRMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Tags
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 MONDO:0000208 Tags
Green Green List (high evidence)	TRNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Tags
Green Green List (high evidence)	TRPM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, MIM# 620224 Tags
Green Green List (high evidence)	TRPM7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Tags
Green Green List (high evidence)	TRRAP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Developmental delay with or without dysmorphic facies and autism OMIM #618454 Tags
Green Green List (high evidence)	TSC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Tuberous sclerosis MIM#191100 Tags
Green Green List (high evidence)	TSC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Tuberous sclerosis MIM#613254 Tags
Green Green List (high evidence)	TSEN15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Pontocerebellar hypoplasia, type 2F, 617026 Tags
Green Green List (high evidence)	TSEN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia type 2B, MIM# 612389 Tags
Green Green List (high evidence)	TSEN54	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Pontocerebellar hypoplasia type 2A 277470 Pontocerebellar hypoplasia type 4 225753 Tags
Green Green List (high evidence)	TSFM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TSHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Central congenital hypothyroidism Orphanet:226298 Tags
Green Green List (high evidence)	TSPOAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dystonia 22, MIM# 620453 Tags
Green Green List (high evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mitochondrial complex III deficiency, nuclear type 2, MIM#615157 Tags
Green Green List (high evidence)	TTC5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism , MIM#619244 Central hypotonia Global developmental delay Intellectual disability Abnormality of nervous system morphology Microcephaly Abnormality of the face Behavioral abnormality Abnormality of the genitourinary system Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TTI1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green Green List (high evidence)	TTI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 39 (MIM#615541) AR Tags
Green Green List (high evidence)	TUBA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Lissencephaly 3, MIM# 611603 Tags
Green Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cortical dysplasia, complex, with other brain malformations 6, MIM#615771 Tags
Green Green List (high evidence)	TUBB2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cortical dysplasia, complex, with other brain malformations 5, MIM# 615763 Tags
Green Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Cortical dysplasia, complex, with other brain malformations 7 MIM#610031 Tags
Green Green List (high evidence)	TUBB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations complex cortical dysplasia with other brain malformations 1 MONDO:0013541 Tags
Green Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations hypomyelinating leukodystrophy 6 MONDO:0012905 Tags
Green Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations complex cortical dysplasia with other brain malformations 4 MONDO:0014171 Tags
Green Green List (high evidence)	TUBGCP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lissencephaly pachygyria subcortical band heterotopia microcephaly intellectual disability Tags
Green Green List (high evidence)	TUBGCP6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Tags
Green Green List (high evidence)	TUSC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615 TUSC3-CDG (Disorders of protein N-glycosylation) Tags SV/CNV
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Saethre-Chotzen syndrome MONDO:0007042 Tags
Green Green List (high evidence)	U2AF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Green Green List (high evidence)	UBAP2L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, MIM# 620494 Delayed speech and language development Motor delay Intellectual disability Autistic behavior Seizures Microcephaly Abnormality of head or neck Short stature Abnormality of the skeletal system Tags
Green Green List (high evidence)	UBE2A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860) Tags
Green Green List (high evidence)	UBE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Disease associations Angelman syndrome MONDO:0007113 Tags
Green Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green Green List (high evidence)	UBE3C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, MIM# 620270 Tags
Green Green List (high evidence)	UBE4A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639 Tags
Green Green List (high evidence)	UBR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Johanson-Blizzard syndrome (MIM#243800) Tags
Green Green List (high evidence)	UBR5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with speech delay and behavioral abnormalities, MIM# 621372 Tags
Green Green List (high evidence)	UBR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Li-Campeau syndrome, MIM# 619189 Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green Green List (high evidence)	UBTF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Neurodevelopmental disorder, MONDO:0700092, UBTF-related Tags
Green Green List (high evidence)	UFC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with spasticity and poor growth OMIM #618076 Tags deep intronic
Green Green List (high evidence)	UFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Leukodystrophy, hypomyelinating, 14 OMIM #617899 Tags
Green Green List (high evidence)	UFSP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Developmental and epileptic encephalopathy 106, MIM# 620028 Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder
Green Green List (high evidence)	UGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green Green List (high evidence)	UGGT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IICC, MIM# 621381 Tags
Green Green List (high evidence)	UGP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epileptic encephalopathy intellectual disability microcephaly Tags
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Orotic aciduria MIM# 258900 Tags
Green Green List (high evidence)	UNC13A	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456 Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 Tags
Green Green List (high evidence)	UNC79	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), UNC79-related Tags
Green Green List (high evidence)	UNC80	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801 MONDO:0014777 Tags
Green Green List (high evidence)	UPB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Beta-ureidopropionase deficiency, OMIM #613161 Tags
Green Green List (high evidence)	UPF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, MONDO:0700092, UPF1-related Tags
Green Green List (high evidence)	UPF3B	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, X-linked, syndromic 14, MIM# 300676 Tags
Green Green List (high evidence)	USP18	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pseudo-TORCH syndrome 2 OMIM #617397 Tags
Green Green List (high evidence)	USP27X	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Intellectual disability, X-linked 105, MIM#300984 Tags
Green Green List (high evidence)	USP7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hao-Fountain syndrome, MIM# 616863 MONDO:0014805 Intellectual disability Autism Tags
Green Green List (high evidence)	USP9X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green Green List (high evidence)	VAMP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 618760 Cortical visual impairment Seizures Stereotypic behaviour Generalized hypotonia Intellectual disability Tags
Green Green List (high evidence)	VARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy OMIM #617802 Tags
Green Green List (high evidence)	VARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Combined oxidative phosphorylation deficiency 20 OMIM #615917 Tags
Green Green List (high evidence)	VCP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO: 0700092) Tags
Green Green List (high evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Arthrogryposis, renal dysfunction, and cholestasis 2 OMIM #613404 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542 Tags
Green Green List (high evidence)	VMA22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Congenital disorder of glycosylation, type IIo MIM# 616828 Tags
Green Green List (high evidence)	VPS11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Leukodystrophy, hypomyelinating, 12, MIM#616683 Tags founder
Green Green List (high evidence)	VPS13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cohen syndrome MONDO:0008999 Tags
Green Green List (high evidence)	VPS16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Tags
Green Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Arthrogryposis, renal dysfunction, and cholestasis 1 OMIM #208085 Tags
Green Green List (high evidence)	VPS35L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Tags new gene name
Green Green List (high evidence)	VPS41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green Green List (high evidence)	VPS4A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	VPS50	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685 Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags
Green Green List (high evidence)	VPS51	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Green Green List (high evidence)	VPS53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Pontocerebellar hypoplasia, type 2E, OMIM #615851 Tags founder
Green Green List (high evidence)	VRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations pontocerebellar hypoplasia type 1A MONDO:0011866 Tags
Green Green List (high evidence)	VWA3B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Spinocerebellar ataxia, autosomal recessive 22 MIM#616948 Tags
Green Green List (high evidence)	WAC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Desanto-Shinawi syndrome 616708 Tags
Green Green List (high evidence)	WAPL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags preprint
Green Green List (high evidence)	WARS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Tags
Green Green List (high evidence)	WARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 Tags
Green Green List (high evidence)	WASF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with absent language and variable seizures , MIM#618707 Tags
Green Green List (high evidence)	WASHC4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Intellectual developmental disorder, autosomal recessive 43 MIM#615817 Tags
Green Green List (high evidence)	WBP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder, MONDO:0700092, WBP4-related Tags
Green Green List (high evidence)	WDFY3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Microcephaly 18, primary, autosomal dominant, MIM#617520 Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR11	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder, MONDO:0700092, WDR11-related Tags
Green Green List (high evidence)	WDR26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Skraban-Deardorff syndrome, MIM#617616 Tags
Green Green List (high evidence)	WDR37	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neurooculocardiogenitourinary syndrome OMIM #618652 Tags
Green Green List (high evidence)	WDR4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Galloway-Mowat syndrome 6, OMIM #618347 Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346 Tags
Green Green List (high evidence)	WDR44	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Ciliopathy, MONDO:0005308, WDR44-related Tags
Green Green List (high evidence)	WDR45	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations X-linked complex neurodevelopmental disorder MONDO:0100148 neurodegeneration with brain iron accumulation 5 MONDO:0010476 Tags
Green Green List (high evidence)	WDR45B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977 Tags
Green Green List (high evidence)	WDR47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder MONDO:0100038, WDR47-related Tags
Green Green List (high evidence)	WDR5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder MONDO:0700092, WDR5-related Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 Tags
Green Green List (high evidence)	WDR73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Galloway-Mowat syndrome 1 MONDO:0033005 Tags
Green Green List (high evidence)	WDR81	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Hydrocephalus, congenital, 3, with brain anomalies, 617967 Tags
Green Green List (high evidence)	WDR83OS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with variable familial hypercholanemia, MIM# 621016 Tags
Green Green List (high evidence)	WDR91	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	WIPI2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 global developmental delay intellectual disability refractory infantile/childhood-onset epilepsy progressive tetraplegia with joint contractures dyskinesia speech and visual impairment autistic features ataxic gait Tags
Green Green List (high evidence)	WNK3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Prieto syndrome, MIM# 309610 Tags
Green Green List (high evidence)	WNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Osteogenesis imperfecta, type XV OMIM# 615220 Tags
Green Green List (high evidence)	WNT5A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Robinow syndrome, autosomal dominant 1 OMIM# 180700 Tags
Green Green List (high evidence)	WSB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Luo-Agrawal neurodevelopmental syndrome, MIM# 621552 Tags
Green Green List (high evidence)	WWOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations developmental and epileptic encephalopathy, 28 MONDO:0014533 autosomal recessive spinocerebellar ataxia 12 MONDO:0013687 Tags
Green Green List (high evidence)	XPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Xeroderma pigmentosum, group A OMIM# 278700 Tags
Green Green List (high evidence)	XPO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, XPO1-related, MONDO:0700092 Tags
Green Green List (high evidence)	XPOT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Syndromic disease, MONDO:0002254 Tags preprint
Green Green List (high evidence)	XRCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Short stature, microcephaly, and endocrine dysfunction MIM#616541, MONDO:0014686 Tags
Green Green List (high evidence)	XYLT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags STR SV/CNV
Green Green List (high evidence)	XYLT1_DBQD2_GGC STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Desbuquois dysplasia 2 MIM#615777 Tags
Green Green List (high evidence)	YARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2, MIM# 619418 Tags
Green Green List (high evidence)	YIF1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Kaya-Barakat-Masson syndrome, MIM# 619125 Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Green Green List (high evidence)	YWHAE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	YWHAG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy 56, (MIMI#617665) Tags
Green Green List (high evidence)	YY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Gabriele-de Vries syndrome, OMIM #617557 Tags
Green Green List (high evidence)	ZBTB11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 69 OMIM #618383 Tags
Green Green List (high evidence)	ZBTB18	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 22, MIM# 612337 Intellectual disability microcephaly corpus callosum abnormalities Tags
Green Green List (high evidence)	ZBTB20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Primrose syndrome, MIM# 259050 Tags
Green Green List (high evidence)	ZBTB24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Immunodeficiency-centromeric instability-facial anomalies syndrome 2 OMIM # 614069 Tags
Green Green List (high evidence)	ZBTB47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related Tags
Green Green List (high evidence)	ZBTB7A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Tags
Green Green List (high evidence)	ZC4H2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Disease associations Wieacker-Wolff syndrome, MIM# 314580 Tags
Green Green List (high evidence)	ZDHHC9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Syndromic X-linked intellectual disability Raymond type MONDO:0010427 Tags
Green Green List (high evidence)	ZEB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mowat-Wilson syndrome, MIM# 235730 MONDO:0009341 Tags SV/CNV
Green Green List (high evidence)	ZFHX3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Disease associations Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related Tags
Green Green List (high evidence)	ZFHX4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations neurodevelopmental disorder, ZFHX4-related (MONDO:0700092) Tags SV/CNV
Green Green List (high evidence)	ZFTRAF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related Tags new gene name
Green Green List (high evidence)	ZFX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, X-linked syndromic 37, MIM# 301118 Tags
Green Green List (high evidence)	ZFYVE26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Disease associations Spastic paraplegia 15, autosomal recessive, MIM# 270700 hereditary spastic paraplegia 15, MONDO:0010044 Tags
Green Green List (high evidence)	ZIC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Structural brain anomalies with impaired intellectual development and craniosynostosis OMIM #618736  Tags
Green Green List (high evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Holoprosencephaly 5 MONDO:0012322 Tags
Green Green List (high evidence)	ZIC2_HPE5_GCN STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Holoprosencephaly 5 MIM#609637 Tags paediatric-onset
Green Green List (high evidence)	ZMIZ1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies OMIM #618659 Tags
Green Green List (high evidence)	ZMYM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522 Tags
Green Green List (high evidence)	ZMYM3	3 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 112, MIM# 301111 Tags
Green Green List (high evidence)	ZMYND11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 30, MIM# 616083 Tags
Green Green List (high evidence)	ZMYND8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related Delayed speech and language development Motor delay Intellectual disability Abnormality of cardiovascular system morphology Hearing abnormality Abnormality of vision Abnormality of the face Seizures Tags
Green Green List (high evidence)	ZNF142	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425 Tags
Green Green List (high evidence)	ZNF148	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies OMIM #617260 Tags
Green Green List (high evidence)	ZNF292	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Intellectual developmental disorder, autosomal dominant 64 MIM#619188 Tags
Green Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Microcephaly 10, primary, autosomal recessive OMIM #615095 Tags
Green Green List (high evidence)	ZNF462	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Weiss-Kruszka syndrome, OMIM# 618619 Tags
Green Green List (high evidence)	ZNF526	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags
Green Green List (high evidence)	ZNF699	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations DEGCAGS syndrome, MIM# 619488 Tags
Green Green List (high evidence)	ZNF711	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 97, MIM# 300803 Tags
Green Green List (high evidence)	ZNHIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations PEHO syndrome, MIM# 260565 Tags founder
Green Green List (high evidence)	ZNRF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	ZRSR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Orofaciodigital syndrome XXI, MIM# 301132 Tags
Green Green List (high evidence)	ZSCAN10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Syndromic disease MONDO:0002254 Tags
Green Green List (high evidence)	ZSWIM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Disease associations Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865 Tags
Amber Amber List (moderate evidence)	AASS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Hyperlysinemia, MIM# 238700 Tags disputed
Amber Amber List (moderate evidence)	ABCB7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Amber Amber List (moderate evidence)	ABI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ABI2-related Tags
Amber Amber List (moderate evidence)	ACACA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Acetyl-CoA carboxylase deficiency, MIM# 613933 Tags
Amber Amber List (moderate evidence)	ACADS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 Tags
Amber Amber List (moderate evidence)	ACADSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations 2-methylbutyrylglycinuria, MIM# 610006 Tags
Amber Amber List (moderate evidence)	ACAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Alpha-methylacetoacetic aciduria, MIM# 203750 Tags
Amber Amber List (moderate evidence)	ADAM23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related Tags
Amber Amber List (moderate evidence)	ADCY5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651 Tags
Amber Amber List (moderate evidence)	ADD1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, ADD1-related Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly no OMIM # Tags
Amber Amber List (moderate evidence)	AGPAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), AGPAT3-related Tags
Amber Amber List (moderate evidence)	AKAP6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder, MONDO:0700092, AKAP6-related Tags
Amber Amber List (moderate evidence)	ALDOA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Glycogen storage disease XII, MIM#611881 Tags
Amber Amber List (moderate evidence)	ALX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Frontonasal dysplasia 3, MIM#613456 Tags
Amber Amber List (moderate evidence)	ALX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Frontonasal dysplasia 1, MIM#136760 Tags
Amber Amber List (moderate evidence)	ALX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Frontonasal dysplasia 2, MIM# 613451 Tags
Amber Amber List (moderate evidence)	ANAPC7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699 Tags founder SV/CNV
Amber Amber List (moderate evidence)	AQP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Tags
Amber Amber List (moderate evidence)	ARHGAP31	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Adams-Oliver syndrome 1, MIM#100300 Tags
Amber Amber List (moderate evidence)	ARHGEF40	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092 Tags
Amber Amber List (moderate evidence)	ARNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Webb-Dattani syndrome 615926 Tags
Amber Amber List (moderate evidence)	ASAP2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ASAP2-related Tags
Amber Amber List (moderate evidence)	ASTN2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ASTN2-related Tags
Amber Amber List (moderate evidence)	ATAD2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations neurodevelopmental disorder MONDO:0700092, ATAD2B-related Tags
Amber Amber List (moderate evidence)	ATM	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Disease associations Ataxia-telangiectasia, MIM#208900 Tags
Amber Amber List (moderate evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Leukodystrophy, hypomyelinating, 24 , MIM# 619851 Tags
Amber Amber List (moderate evidence)	ATP13A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Kufor-Rakeb syndrome, MIM# 606693 Tags
Amber Amber List (moderate evidence)	ATP5F1E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Tags new gene name
Amber Amber List (moderate evidence)	ATP5MK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Tags
Amber Amber List (moderate evidence)	ATXN2L	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations macrocephaly intellectual disability Tags
Amber Amber List (moderate evidence)	B3GALT6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 Tags
Amber Amber List (moderate evidence)	BAZ2B	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BAZ2B-related Tags
Amber Amber List (moderate evidence)	BBOX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Carnitine deficiency, MONDO:0017716, BBOX1-related Tags
Amber Amber List (moderate evidence)	BCORL1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Disease associations Shukla-Vernon syndrome, MIM#301029 Tags
Amber Amber List (moderate evidence)	BRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Fanconi anaemia, complementation group J, MIM# 609054 Tags
Amber Amber List (moderate evidence)	BUB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Primary microcephaly-30 (MCPH30), MIM#620183 Tags
Amber Amber List (moderate evidence)	CACNA2D1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Developmental and epileptic encephalopathy 110, MIM# 620149 Tags
Amber Amber List (moderate evidence)	CACNB4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations intellectual disability psychomotor retardation blindness epilepsy movement disorder cerebellar atrophy Tags
Amber Amber List (moderate evidence)	CAMK2G	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Intellectual developmental disorder, autosomal dominant 59 MIM# 618522 Tags
Amber Amber List (moderate evidence)	CCDC174	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Tags
Amber Amber List (moderate evidence)	CCDC78	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Centronuclear myopathy 4, MIM#614807 Tags
Amber Amber List (moderate evidence)	CD96	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations C syndrome, MIM#211750 Tags
Amber Amber List (moderate evidence)	CDK9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160 CHARGE-like syndrome with retinal dystrophy Tags
Amber Amber List (moderate evidence)	CDKL2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CDKL2-related Tags
Amber Amber List (moderate evidence)	CDKN1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations IMAGE syndrome, MIM# 614732 Tags
Amber Amber List (moderate evidence)	CDO1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Syndromic disease, MONDO:0002254, CDO1-related Tags
Amber Amber List (moderate evidence)	CENATAC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mosaic variegated aneuploidy syndrome 4 (MIM#620153) Tags
Amber Amber List (moderate evidence)	CEP63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Seckel syndrome 6, MIM#614728 Tags
Amber Amber List (moderate evidence)	CEP89	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency Tags
Amber Amber List (moderate evidence)	CFAP418	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Bardet-Biedl syndrome 21, MIM#617406 Tags
Amber Amber List (moderate evidence)	CHMP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hereditary spastic paraplegia (MONDO:0019064), CHMP3-related Tags
Amber Amber List (moderate evidence)	CHRM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental delay intellectual disability autism Tags
Amber Amber List (moderate evidence)	CHST14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 Tags
Amber Amber List (moderate evidence)	CLCN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Leukoencephalopathy with ataxia, MIM#615651 Tags
Amber Amber List (moderate evidence)	CLCN7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Tags
Amber Amber List (moderate evidence)	CNKSR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Neurodevelopmental disorder, MONDO:0700092, CNKSR1-related Tags
Amber Amber List (moderate evidence)	COG3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Congenital disorder of glycosylation, type IIbb, MIM# 620546 Tags
Amber Amber List (moderate evidence)	COQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Coenzyme Q10 deficiency, primary, 1, MIM#607426 Tags
Amber Amber List (moderate evidence)	COQ9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Coenzyme Q10 deficiency, primary, 5, MIM#614654 Tags
Amber Amber List (moderate evidence)	COX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 10, MIM#619053 Tags
Amber Amber List (moderate evidence)	COX20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, MIM#220110 Tags
Amber Amber List (moderate evidence)	COX7B	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Disease associations Linear skin defects with multiple congenital anomalies 2, MIM#300887 Tags
Amber Amber List (moderate evidence)	CRBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 2, MIM# 607417 Tags
Amber Amber List (moderate evidence)	CSF1R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476 BANDDOS Tags
Amber Amber List (moderate evidence)	CSNK1G1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related Tags
Amber Amber List (moderate evidence)	CSTF2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Intellectual developmental disorder, X-linked 113, MIM# 301116 Tags
Amber Amber List (moderate evidence)	CTC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Amber Amber List (moderate evidence)	CTNND1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Blepharocheilodontic syndrome 2, MIM# 617681 Tags
Amber Amber List (moderate evidence)	DCAF15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Tags
Amber Amber List (moderate evidence)	DENR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DENR-related Tags
Amber Amber List (moderate evidence)	DHTKD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations 2-aminoadipic 2-oxoadipic aciduria MIM#204750 Disorders of histidine, tryptophan or lysine metabolism Tags
Amber Amber List (moderate evidence)	DHX32	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DHX32-related Tags
Amber Amber List (moderate evidence)	DIP2B_FRA12A_CGG STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Disease associations Mental retardation, FRA12A type MIM#136630 Tags 5'UTR
Amber Amber List (moderate evidence)	DLG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Intellectual disability (MONDO#0001071), DLG2-related Tags SV/CNV
Amber Amber List (moderate evidence)	DNAJA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease, MONDO:0044970, DNAJA3-related Tags
Amber Amber List (moderate evidence)	DPYD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Dihydropyrimidine dehydrogenase deficiency (MIM#274270) Tags
Amber Amber List (moderate evidence)	DPYSL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations intellectual disability, MONDO:0001071, DPYSL2-related Tags
Amber Amber List (moderate evidence)	DROSHA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), DROSHA-related Tags non-coding gene
Amber Amber List (moderate evidence)	DSCAM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Autism ID Tags
Amber Amber List (moderate evidence)	EIF2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability, epilepsy Tags
Amber Amber List (moderate evidence)	EIF3I	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Amber Amber List (moderate evidence)	EIF3K	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations EIF3K-related neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	EMG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Bowen-Conradi syndrome, MIM#211180 Tags founder
Amber Amber List (moderate evidence)	EMX2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations complex neurodevelopmental disorder - MONDO:0100038, EMX2-related Hypogonadotropic hypogonadism, MONDO:0015770, EMX2-related DSD, EMX2-related Tags disputed
Amber Amber List (moderate evidence)	EPHA7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092,EPHA7-related Tags SV/CNV
Amber Amber List (moderate evidence)	ERBB4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Intellectual disability Tags SV/CNV
Amber Amber List (moderate evidence)	ERGIC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability Tags
Amber Amber List (moderate evidence)	EXOC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306 Global developmental delay Intellectual disability Abnormality of the face Abnormality of brain morphology Tags
Amber Amber List (moderate evidence)	EXOSC10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Microcephaly, MONDO:0001149, EXOSC10-related Tags
Amber Amber List (moderate evidence)	EXOSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Tags
Amber Amber List (moderate evidence)	EXOSC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	FANCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Fanconi anemia, complementation group B, MIM# 300514 Tags
Amber Amber List (moderate evidence)	FANCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Fanconi anemia, complementation group D2, MIM# 227646 Tags
Amber Amber List (moderate evidence)	FANCG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Fanconi anemia, complementation group G, MIM# 614082 Tags
Amber Amber List (moderate evidence)	FEM1C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, FEM1C-related MONDO:0700092 Tags
Amber Amber List (moderate evidence)	FGFR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, MIM# 207410 Apert syndrome, MIM# 101200 Tags
Amber Amber List (moderate evidence)	FICD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, FICD-related (MONDO#0700092) Tags
Amber Amber List (moderate evidence)	FKBP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Amber Amber List (moderate evidence)	FOXR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Postnatal microcephaly, progressive brain atrophy and global developmental delay Tags
Amber Amber List (moderate evidence)	FRMD4A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Intellectual disability microcephaly Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819 Tags
Amber Amber List (moderate evidence)	FRY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability no OMIM number yet Tags
Amber Amber List (moderate evidence)	FRYL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Pan-Chung-Bellen syndrome, MIM# 621049 Tags
Amber Amber List (moderate evidence)	FTCD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Glutamate formiminotransferase deficiency MIM#229100 Tags
Amber Amber List (moderate evidence)	GBA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Gaucher disease, type II 230900 Tags
Amber Amber List (moderate evidence)	GLYCTK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations D-glyceric aciduria MONDO:0009070 Tags
Amber Amber List (moderate evidence)	GMNN	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Meier-Gorlin syndrome 6, MIM# 616835 Tags
Amber Amber List (moderate evidence)	GNAQ	1 review	Unknown	Sources Expert Review Amber Genetic Health Queensland Disease associations Sturge-Weber syndrome, somatic, mosaic, MIM#185300 Tags somatic
Amber Amber List (moderate evidence)	GORAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Geroderma osteodysplasticum, MIM#231070 Tags
Amber Amber List (moderate evidence)	GPN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Perrault syndrome Tags
Amber Amber List (moderate evidence)	H4C11	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Tessadori-van Haaften neurodevelopmental syndrome 2 , MIM# 619759 Tags new gene name
Amber Amber List (moderate evidence)	H4C4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, HIST1H4D-related MONDO:0700092 Tags new gene name
Amber Amber List (moderate evidence)	H4C6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, HIST1H4F-related Tags new gene name
Amber Amber List (moderate evidence)	HARS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations multisystem ataxic syndrome mild-severe intellectual disability Tags
Amber Amber List (moderate evidence)	HAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 Tags
Amber Amber List (moderate evidence)	HEATR3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability Diamond-Blackfan anaemia 21, MIM# 620072 Tags
Amber Amber List (moderate evidence)	HEATR5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Pontocerebellar hypoplasia MONDO:0020135, HEATR5B-related Tags
Amber Amber List (moderate evidence)	HSPA9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Even-plus syndrome, OMIM 616854 skeletal anomalies congenital cardiac and renal anom Tags
Amber Amber List (moderate evidence)	HTT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Lopes-Maciel-Rodan syndrome, 617435 LOMARS Intellectual disability Tags
Amber Amber List (moderate evidence)	HYLS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Hydrolethalus syndrome, MIM#236680 Tags founder
Amber Amber List (moderate evidence)	ICE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability, cerebral atrophy Tags
Amber Amber List (moderate evidence)	IKZF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234 Tags
Amber Amber List (moderate evidence)	IMPA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 59, MIM#617323 Tags
Amber Amber List (moderate evidence)	IQSEC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability Fetal akinesia Tags
Amber Amber List (moderate evidence)	IRF2BP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, IRF2BP1-related Tags
Amber Amber List (moderate evidence)	ITCH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 Tags
Amber Amber List (moderate evidence)	ITGA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Tags
Amber Amber List (moderate evidence)	JAKMIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related Tags
Amber Amber List (moderate evidence)	JPH3	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, JPH3-related Intellectual disability dystonia Tags
Amber Amber List (moderate evidence)	KCNJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Bartter syndrome, type 2, MIM#241200 Tags
Amber Amber List (moderate evidence)	KCNK3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Neurodevelopmental disorder, MONDO:0700092, KCNK3-related Tags
Amber Amber List (moderate evidence)	KGD4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related Tags
Amber Amber List (moderate evidence)	KIF21A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700 Tags
Amber Amber List (moderate evidence)	KIF5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Spastic paraplegia 10, autosomal dominant, MIM# 604187 inherited neurodegenerative disorder MONDO:0024237 Tags
Amber Amber List (moderate evidence)	LINGO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Mental retardation, autosomal recessive 64, MIM#618103 Tags
Amber Amber List (moderate evidence)	LIPT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668 Tags
Amber Amber List (moderate evidence)	LRRC32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074 Tags
Amber Amber List (moderate evidence)	LRRC45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, LRRC45-related Tags
Amber Amber List (moderate evidence)	LRRC8C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations TIMES syndrome MIM#621056 Tags
Amber Amber List (moderate evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Chediak-Higashi syndrome, MIM#214500 Tags
Amber Amber List (moderate evidence)	MAL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukodystrophy, hypomyelinating, 28, MIM# 620978 Tags
Amber Amber List (moderate evidence)	MAN2A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Tags
Amber Amber List (moderate evidence)	MANF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Tags
Amber Amber List (moderate evidence)	MCCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Organic acidurias Tags
Amber Amber List (moderate evidence)	MCCC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210) Tags
Amber Amber List (moderate evidence)	MDGA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MDGA1-related Tags
Amber Amber List (moderate evidence)	MED22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Amber Amber List (moderate evidence)	MED29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Pontocerebellar hypoplasia, MONDO:0020135, MED29-related Tags
Amber Amber List (moderate evidence)	MGA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Syndromic disease, MONDO:0002254, MGA-related Tags
Amber Amber List (moderate evidence)	MIDEAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ELMSAN1-related Tags new gene name
Amber Amber List (moderate evidence)	MIR17HG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Feingold syndrome 2 OMIM #614326 Tags non-coding gene SV/CNV
Amber Amber List (moderate evidence)	MMGT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, MMGT1-related Tags
Amber Amber List (moderate evidence)	MOCS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Molybdenum cofactor deficiency, type B2, MIM# 621373 Tags
Amber Amber List (moderate evidence)	MRPL3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Combined oxidative phosphorylation deficiency 9 OMIM #614582 Tags
Amber Amber List (moderate evidence)	MRTFB	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), MKL2-related Tags
Amber Amber List (moderate evidence)	MTERF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease (MONDO:0044970), MTERF3-related Tags
Amber Amber List (moderate evidence)	MTNAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber Amber List (moderate evidence)	NAV2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, NAV2-related Tags
Amber Amber List (moderate evidence)	NBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Nijmegen breakage syndrome, MIM# 251260 Tags
Amber Amber List (moderate evidence)	NCAPG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Khan-Khan-Katsanis syndrome, MIM# 618460 Tags
Amber Amber List (moderate evidence)	NDUFA10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 Tags
Amber Amber List (moderate evidence)	NDUFA11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Tags
Amber Amber List (moderate evidence)	NDUFA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial complex I deficiency, nuclear type 37- 619272 Epilepsy Microcephaly Developmental Delay Tags
Amber Amber List (moderate evidence)	NDUFA9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 26, MIM#618247 Tags
Amber Amber List (moderate evidence)	NDUFAF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 Tags
Amber Amber List (moderate evidence)	NDUFAF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 18, MIM#618240 Tags
Amber Amber List (moderate evidence)	NDUFAF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 15, MIM#618237 Tags
Amber Amber List (moderate evidence)	NDUFAF5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 Tags
Amber Amber List (moderate evidence)	NDUFAF6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 17, MIM#618239 Tags
Amber Amber List (moderate evidence)	NDUFB3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 25, MIM#618246 Tags
Amber Amber List (moderate evidence)	NDUFB9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Tags
Amber Amber List (moderate evidence)	NDUFS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 6, MIM#618228 Tags
Amber Amber List (moderate evidence)	NDUFS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 8, MIM#618230 Tags
Amber Amber List (moderate evidence)	NDUFS6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 9, MIM#618232 Tags
Amber Amber List (moderate evidence)	NDUFV2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mitochondrial complex I deficiency, nuclear type 7, MIM#618229 Tags
Amber Amber List (moderate evidence)	NECAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Epileptic encephalopathy, early infantile, 21, MIM#615833 Tags
Amber Amber List (moderate evidence)	NFXL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Syndromic disease (MONDO:0002254), NFXL1-related Tags
Amber Amber List (moderate evidence)	NHP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Høyeraal-Hreidarsson syndrome Tags
Amber Amber List (moderate evidence)	NLGN1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 autism, susceptibility to, 20, MONDO:0030004 Tags
Amber Amber List (moderate evidence)	NMNAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260 Tags founder SV/CNV
Amber Amber List (moderate evidence)	NUBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	NUP85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability Tags
Amber Amber List (moderate evidence)	PAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Disease associations Otofaciocervical syndrome 2, 615560 Tags
Amber Amber List (moderate evidence)	PCNA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Disease associations hereditary ataxia MONDO:0100309 Tags
Amber Amber List (moderate evidence)	PCNT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Microcephalic osteodysplastic primordial dwarfism, type II MIM#210720 Tags
Amber Amber List (moderate evidence)	PDE2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Paroxysmal dyskinesia Intellectual developmental disorder with paroxysmal dyskinesia or seizures, MIM# 619150 Tags
Amber Amber List (moderate evidence)	PDS5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations complex neurodevelopmental disorder, MONDO:0100038, PDS5A -related Tags
Amber Amber List (moderate evidence)	PDS5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PDS5B-related Tags
Amber Amber List (moderate evidence)	PEDS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PEDS1-related Tags
Amber Amber List (moderate evidence)	PFAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Inborn error of metabolism, MONDO:0019052, PFAS-related Tags
Amber Amber List (moderate evidence)	PHACTR4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Syndromic disease, MONDO:0002254, PHACTR4-related Tags
Amber Amber List (moderate evidence)	PHC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Microcephaly 11, primary, autosomal recessive, MIM#615414 Tags
Amber Amber List (moderate evidence)	PIEZO2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Marden-Walker syndrome, MIM# 248700 Arthrogryposis, distal, type 3, MIM# 114300 Tags
Amber Amber List (moderate evidence)	PIGU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Glycosylphosphatidylinositol biosynthesis defect 21 OMIM #618590 Tags
Amber Amber List (moderate evidence)	PIGY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809 Tags
Amber Amber List (moderate evidence)	PJA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations X-linked complex neurodevelopmental disorder, PJA1-related, MONDO:0100148 Tags founder
Amber Amber List (moderate evidence)	PLCH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Holoprosencephaly 14, MIM# 619895 Tags
Amber Amber List (moderate evidence)	PLEKHG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Leukodystrophy and acquired microcephaly with or without dystonia, 616763 Tags
Amber Amber List (moderate evidence)	PLOD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Lysyl hydroxylase 3 deficiency, MIM#612394 Tags
Amber Amber List (moderate evidence)	PLXNA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Disease associations Complex neurodevelopmental disorder, PLXNA2-related, MONDO:0100038 Tags
Amber Amber List (moderate evidence)	PPM1K	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Maple syrup urine disease, mild variant, MIM#615135 Tags
Amber Amber List (moderate evidence)	PPP1R3F	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Tags
Amber Amber List (moderate evidence)	PPP2R2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Tags
Amber Amber List (moderate evidence)	PPP5C	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PPP5C-related Tags
Amber Amber List (moderate evidence)	PRICKLE2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related Tags
Amber Amber List (moderate evidence)	PRKD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Congenital heart defects and ectodermal dysplasia, 617364 Tags
Amber Amber List (moderate evidence)	PRODH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Hyperprolinemia, type I MIM#239500 Tags
Amber Amber List (moderate evidence)	PRORP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Combined oxidative phosphorylation deficiency 54, MIM# 619737 Tags new gene name
Amber Amber List (moderate evidence)	PRRT2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066 Episodic kinesigenic dyskinesia 1, MIM# 128200 Seizures, benign familial infantile, 2, MIM# 605751 intellectual disability, autosomal recessive Tags
Amber Amber List (moderate evidence)	PRSS12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Intellectual disability, PRSS12 related MIM#249500 Tags
Amber Amber List (moderate evidence)	PSAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Phosphoserine aminotransferase deficiency, MIM# 610992 Neu-Laxova syndrome 2, MIM# 616038 Tags
Amber Amber List (moderate evidence)	PSMB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, PSMB1-related Tags
Amber Amber List (moderate evidence)	PTBP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), PTBP2-related Tags
Amber Amber List (moderate evidence)	PTPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Intellectual disability Parkinsonism Tags
Amber Amber List (moderate evidence)	PTPRD	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, PTPRD related Tags
Amber Amber List (moderate evidence)	RAB14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, RAB14-related Tags
Amber Amber List (moderate evidence)	RBM28	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079 Tags
Amber Amber List (moderate evidence)	RBMX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber Disease associations Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238 Gustavson syndrome, MIM# 309555 Tags
Amber Amber List (moderate evidence)	REPS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Cerebral palsy HP:0100021 Tags
Amber Amber List (moderate evidence)	RIC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Cleft lip cataract tooth abnormality intellectual disability facial dysmorphism ADHD Tags
Amber Amber List (moderate evidence)	RMRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Anauxetic dysplasia 1, MIM#607095 Tags non-coding gene
Amber Amber List (moderate evidence)	RNU5A-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related Tags
Amber Amber List (moderate evidence)	RPS23	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Brachycephaly, trichomegaly, and developmental delay, MIM# 617412 Tags
Amber Amber List (moderate evidence)	RUSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Mental retardation, autosomal recessive 61, MIM# 617773 Tags
Amber Amber List (moderate evidence)	SACS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Tags
Amber Amber List (moderate evidence)	SCN3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SCN3B-related Tags
Amber Amber List (moderate evidence)	SEMA3E	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations CHARGE syndrome, MIM#214800 Tags
Amber Amber List (moderate evidence)	SEMA5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations no OMIM number yet Tags
Amber Amber List (moderate evidence)	SLC1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Dicarboxylic aminoaciduria, MIM#222730 Tags
Amber Amber List (moderate evidence)	SLC20A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Basal ganglia calcification, idiopathic, 1, MIM#213600 Tags
Amber Amber List (moderate evidence)	SLC2A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Fanconi-Bickel syndrome, MIM# 227810 Tags
Amber Amber List (moderate evidence)	SLC35A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type IIf, MIM# 603585 Tags
Amber Amber List (moderate evidence)	SLC35A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Arthrogryposis, mental retardation, and seizures OMIM #615553 Skeletal dysplasia Tags
Amber Amber List (moderate evidence)	SLC35B2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269 Tags
Amber Amber List (moderate evidence)	SLC35F1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SLC35F1-associated Rett-like syndrome Tags
Amber Amber List (moderate evidence)	SLC5A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Thyroid dyshormonogenesis 1, MIM# 274400 Tags
Amber Amber List (moderate evidence)	SLC9A7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Disease associations Intellectual developmental disorder, X-linked 108 OMIM #301024 Tags
Amber Amber List (moderate evidence)	SMARCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) Tags
Amber Amber List (moderate evidence)	SNIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Psychomotor retardation, epilepsy, and craniofacial dysmorphism, MIM# 614501 Tags
Amber Amber List (moderate evidence)	SNORD118	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Leukoencephalopathy, brain calcifications, and cysts, MIM#614561 Tags non-coding gene
Amber Amber List (moderate evidence)	SNRPN	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert list Expert Review Amber Disease associations Prader-Willi syndrome OMIM #176270 Tags SV/CNV
Amber Amber List (moderate evidence)	SOX3	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genetic Health Queensland Disease associations Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123 Panhypopituitarism, X-linked, MIM#312000 Tags SV/CNV
Amber Amber List (moderate evidence)	SOX9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations campomelic dysplasia MONDO:0007251 Tags
Amber Amber List (moderate evidence)	SREBF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurocutaneous syndrome, MONDO:0042983, SREBF2-related Tags
Amber Amber List (moderate evidence)	SREK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Prader-Willi-like syndrome, SREK1-related MONDO:0008300 Tags
Amber Amber List (moderate evidence)	STN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Amber Amber List (moderate evidence)	SUPT6H	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SUPT6H-related Tags
Amber Amber List (moderate evidence)	SV2A	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SV2A-related Developmental and epileptic encephalopathy 113, MIM# 620772 Tags
Amber Amber List (moderate evidence)	TACO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Mitochondrial complex IV deficiency OMIM #220110 Tags
Amber Amber List (moderate evidence)	TAF13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Intellectual developmental disorder, autosomal recessive 60, MIM# 617432 Tags
Amber Amber List (moderate evidence)	TARS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Trichothiodystrophy 7, nonphotosensitive OMIM #618546 Tags
Amber Amber List (moderate evidence)	TBCB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382 Tags
Amber Amber List (moderate evidence)	TBX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223 Tags
Amber Amber List (moderate evidence)	TGFB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Tags
Amber Amber List (moderate evidence)	THG1L	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spinocerebellar ataxia, autosomal recessive 28 - 618800 Epilepsy Intellectual Disability Tags founder
Amber Amber List (moderate evidence)	THRB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, autosomal dominant, MIM# 188570 Tags
Amber Amber List (moderate evidence)	TKFC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Developmental delay cataracts liver dysfunction Tags
Amber Amber List (moderate evidence)	TKT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Short stature, developmental delay, and congenital heart defects OMIM #617044 Tags
Amber Amber List (moderate evidence)	TMEM231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Joubert syndrome 20, OMIM #614970 Meckel syndrome 11, OMIM #615397 Tags
Amber Amber List (moderate evidence)	TNIK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mental retardation, autosomal recessive 54, MIM# 617028 Tags
Amber Amber List (moderate evidence)	TNK2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations late onset infantile epilepsy Mayer-Rokitansky-Küster-Hauser syndrome Tags
Amber Amber List (moderate evidence)	TRIP13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Tags founder
Amber Amber List (moderate evidence)	TRPC5	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TRPC5-related Tags
Amber Amber List (moderate evidence)	TSHZ3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations congenital anomaly of kidney and urinary tract MONDO:0019719 Tags
Amber Amber List (moderate evidence)	TSPAN7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Genetic Health Queensland Disease associations Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 Tags
Amber Amber List (moderate evidence)	TTL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations complex neurodevelopmental disorder MONDO:0100038 Tags
Amber Amber List (moderate evidence)	TUBGCP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 Tags
Amber Amber List (moderate evidence)	TUFM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Combined oxidative phosphorylation deficiency 4 OMIM #610678 Tags
Amber Amber List (moderate evidence)	UBA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	UNC13C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	UQCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Mitochondrial complex III deficiency, nuclear type 7 OMIM #615824 Tags
Amber Amber List (moderate evidence)	USP14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Syndromic disease MONDO:0002254, USP14-related Tags
Amber Amber List (moderate evidence)	VPS37A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Spastic paraplegia 53, autosomal recessive OMIM #614898 Tags
Amber Amber List (moderate evidence)	WDR59	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Syndromic disease, MONDO:0002254 Tags founder
Amber Amber List (moderate evidence)	WDTC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder MONDO:0700092, WDTC1-related Tags
Amber Amber List (moderate evidence)	WFS1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Wolfram syndrome 1, MIM# 222300 Wolfram-like syndrome, autosomal dominant, MIM# 614296 Tags
Amber Amber List (moderate evidence)	YAP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genetic Health Queensland Disease associations Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation OMIM #120433 Tags
Amber Amber List (moderate evidence)	YKT6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Syndromic disease, MONDO:0002254, YKT6-related Tags
Amber Amber List (moderate evidence)	YWHAZ	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, YWHAZ-related Tags
Amber Amber List (moderate evidence)	ZBTB16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Disease associations Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447 Tags
Amber Amber List (moderate evidence)	ZBTB7B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Inborn error of immunity, MONDO:0003778, ZBTB7B-related Tags
Amber Amber List (moderate evidence)	ZC3H14	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Mental retardation, autosomal recessive 56 OMIM# 617125 Tags
Amber Amber List (moderate evidence)	ZDHHC16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Tags
Amber Amber List (moderate evidence)	ZNF407	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations SIMHA syndrome, MIM# 619557 Global developmental delay Intellectual disability Tags
Amber Amber List (moderate evidence)	ZNF668	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Tags
Amber Amber List (moderate evidence)	ZNF865	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations ZNF865‑associated neurodevelopmental disorder MONDO:0700092 Tags
Red Red List (low evidence)	ABCC6	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ABCG5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Sitosterolemia 2, MIM#618666 Tags
Red Red List (low evidence)	ACOX2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Bile acid synthesis defect, congenital, 6 - 617308 Tags
Red Red List (low evidence)	ACTA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Nemaline myopathy 3, MIM#161800 Myopathy, actin, congenital, with cores, MIM#161800 Tags
Red Red List (low evidence)	ADA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688 Tags
Red Red List (low evidence)	ADAMTSL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Geleophysic dysplasia 1, MIM#231050 Tags
Red Red List (low evidence)	ADGRB3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual disability Tags
Red Red List (low evidence)	ADGRG6	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Lethal congenital contracture syndrome 9 OMIM #616503 Tags
Red Red List (low evidence)	ADRA2B	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Cortical myoclonus and epilepsy Intellectual disability Tags refuted
Red Red List (low evidence)	AFG3L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Spastic ataxia 5, autosomal recessive, MIM#614487 Tags
Red Red List (low evidence)	AGGF1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	AGK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Sengers syndrome, MIM#212350 Tags
Red Red List (low evidence)	AGL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Glycogen storage disease IIIa, MIM# 232400 Tags
Red Red List (low evidence)	AGO3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Intellectual disability Tags
Red Red List (low evidence)	AGPS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 Tags
Red Red List (low evidence)	AGT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Renal tubular dysgenesis, MIM#267430 Tags
Red Red List (low evidence)	AGTR2	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations X-linked complex neurodevelopmental disorder MONDO:0100148 Tags disputed
Red Red List (low evidence)	AHSG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations ?Alopecia-intellectual disability syndrome 1 MIM#203650 infantile cortical hyperostosis Tags
Red Red List (low evidence)	AKR1C2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations 46XY sex reversal 8, MIM#614279 Tags
Red Red List (low evidence)	ALDOB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Fructose intolerance, hereditary, MIM#229600 Tags
Red Red List (low evidence)	ALS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Disease associations ALS2-related motor neuron disease, MONDO:0100227 Tags
Red Red List (low evidence)	ANKH	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Craniometaphyseal dysplasia, MIM#123000 Tags
Red Red List (low evidence)	ANKRD31	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ANKRD31-related Tags
Red Red List (low evidence)	APTX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920 Tags
Red Red List (low evidence)	AR	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations Spinal and bulbar muscular atrophy of Kennedy, MIM# 313200 Tags
Red Red List (low evidence)	ARHGEF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Disease associations neurodevelopmental disorder with midbrain and hindbrain malformations MONDO:0056797 Tags
Red Red List (low evidence)	ARHGEF6	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations MENTAL RETARDATION X-LINKED TYPE 46 Tags disputed
Red Red List (low evidence)	ARID3A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cornelia de Lange syndrome - MONDO:0016033 Tags
Red Red List (low evidence)	ASAH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Red Red List (low evidence)	ASMT	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ATL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Neuropathy, hereditary sensory, type ID, MIM# 613708 Spastic paraplegia 3A, autosomal dominant, MIM# 182600 Tags
Red Red List (low evidence)	ATP10A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ATP2A2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Darier disease, MIM#124200 Tags
Red Red List (low evidence)	ATP2C2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations language impairment, HP:0002463 Tags
Red Red List (low evidence)	ATP6V1C1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related Tags
Red Red List (low evidence)	ATXN10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Spinocerebellar ataxia 10, MIM#603516 Tags
Red Red List (low evidence)	AVP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Diabetes insipidus, neurohypophyseal, MIM#125700 Tags
Red Red List (low evidence)	AVPR1A	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations autism spectrum disorder MONDO:0005258 Tags disputed
Red Red List (low evidence)	AVPR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations Diabetes insipidus, nephrogenic, MIM#304800 Tags
Red Red List (low evidence)	B3GAT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 Tags
Red Red List (low evidence)	BANF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, BANF1-related Tags
Red Red List (low evidence)	BCAT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), BCAT1-related Tags
Red Red List (low evidence)	BDNF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Central hypoventilation syndrome, congenital, MIM#209880 Tags
Red Red List (low evidence)	BICD2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 Tags
Red Red List (low evidence)	BIN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Centronuclear myopathy 2, MIM# 255200 Tags
Red Red List (low evidence)	BLM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Bloom syndrome, MIM# 210900 Tags
Red Red List (low evidence)	BMPER	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Diaphanospondylodysostosis, MIM#608022 Tags
Red Red List (low evidence)	C18orf32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), C18orf32-related Tags
Red Red List (low evidence)	C19orf12	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Neurodegeneration with brain iron accumulation 4, MIM#614298 Tags
Red Red List (low evidence)	CA5A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags
Red Red List (low evidence)	CACNG2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 10, MIM#614256 Tags
Red Red List (low evidence)	CANT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Desbuquois dysplasia 1, MIM# 251450 Tags
Red Red List (low evidence)	CCDC8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations 3-M syndrome 3, MIM#614205 Tags
Red Red List (low evidence)	CCDC93	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Ritscher-Schinzel syndrome, MONDO:0019078, CCDC93-related Tags
Red Red List (low evidence)	CDC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Meier-Gorlin syndrome 5 (MIM#613805) Tags
Red Red List (low evidence)	CDH15	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 3 MIM#612580 Tags disputed
Red Red List (low evidence)	CDK5R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability autism Tags
Red Red List (low evidence)	CDKL1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CDKL1-related Tags
Red Red List (low evidence)	CDT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Meier-Gorlin syndrome 4, MIM#613804 Tags
Red Red List (low evidence)	CFH	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Complement factor H deficiency, MIM#609814 Tags
Red Red List (low evidence)	CFHR1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Tags
Red Red List (low evidence)	CFHR3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 Tags
Red Red List (low evidence)	CHRNA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, nocturnal frontal lobe, 1, MIM# 600513 Tags
Red Red List (low evidence)	CISD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Wolfram syndrome 2, MIM#604928 Tags
Red Red List (low evidence)	CLASP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations neurodevelopmental disorder MONDO:0700092, CLASP1-related Tags
Red Red List (low evidence)	CLCNKA	1 review 1 red	Other	Sources Expert Review Red Genetic Health Queensland Disease associations Bartter syndrome, type 4b, digenic, MIM#613090 Tags
Red Red List (low evidence)	CLIC2	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability, X-linked, syndromic 32, 300886 Tags disputed
Red Red List (low evidence)	CLIP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability Tags
Red Red List (low evidence)	CLPP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Perrault syndrome 3, MIM# 614129 Tags
Red Red List (low evidence)	CLUAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Leber congenital amaurosis, MONDO:0018998, CLUAP1-related Ciliopathy, MONDO:0005308, CLUAP1-related Tags
Red Red List (low evidence)	CMAS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CMAS-related Tags
Red Red List (low evidence)	CNTN3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Neurodevelopmental disorder, MONDO:0700092, CNTN3-related Tags
Red Red List (low evidence)	CNTN4	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags disputed
Red Red List (low evidence)	CNTN6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, CNTN6-related Tags disputed
Red Red List (low evidence)	CNTNAP5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Autism Tags disputed
Red Red List (low evidence)	COA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058 Tags
Red Red List (low evidence)	COL18A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Knobloch syndrome, type 1, MIM#267750 Tags
Red Red List (low evidence)	COL1A2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821 Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320 Osteogenesis imperfecta, type II, MIM# 166210 Osteogenesis imperfecta, type III, MIM# 259420 Osteogenesis imperfecta, type IV, MIM# 166220 Tags
Red Red List (low evidence)	COLEC10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations 3MC syndrome 3, MIM# 248340 Tags
Red Red List (low evidence)	COMMD4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Ritscher-Schinzel syndrome, MONDO:0019078, COMMD4-related Tags
Red Red List (low evidence)	COMMD9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, COMMD9-related Tags
Red Red List (low evidence)	CORO1A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Immunodeficiency 8, MIM#615401 Tags
Red Red List (low evidence)	COX4I2	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red Red List (low evidence)	COX6B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Red Red List (low evidence)	CP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Aceruloplasminaemia, MIM#604290 Tags
Red Red List (low evidence)	CPA6	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, familial temporal lobe, 5, MIM#614417 Febrile seizures, familial, 11, MIM#614418 Tags refuted
Red Red List (low evidence)	CRIPTO	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Congenital nervous system disorder, MONDO:0002320, TDGF1-related Tags disputed
Red Red List (low evidence)	CRKL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	CRLF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Cold-induced sweating syndrome 1, MIM#272430 Tags
Red Red List (low evidence)	CRTAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Osteogenesis imperfecta, type VII, MIM#610682 Tags
Red Red List (low evidence)	CSMD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Focal epilepsy - MONDO:0005384, CSMD2-related Tags
Red Red List (low evidence)	CSTB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Tags
Red Red List (low evidence)	CTSF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362 Tags
Red Red List (low evidence)	CUBN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Megaloblastic anemia-1, Finnish type, MIM#261100 Proteinuria Tags
Red Red List (low evidence)	CYC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Mitochondrial complex III deficiency, nuclear type 6 MIM#615453 Tags
Red Red List (low evidence)	CYFIP1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	CYP27A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Cerebrotendinous xanthomatosis, MIM# 213700 Tags
Red Red List (low evidence)	CYP2U1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Spastic paraplegia 56, autosomal recessive, MIM#615030 Tags
Red Red List (low evidence)	DBX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations central hypoventilation syndrome, congenital MONDO:0800031 Tags
Red Red List (low evidence)	DDR2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Warburg-Cinotti syndrome, MIM#618175, AD Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR Tags
Red Red List (low evidence)	DDX39A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DDX39A-related Tags
Red Red List (low evidence)	DIP2B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Mental retardation, FRA12A type, MIM# 136630 Tags 5'UTR
Red Red List (low evidence)	DIPK2A	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DLGAP2	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	DLK1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Red Literature Disease associations central precocious puberty Tags
Red Red List (low evidence)	DNAH14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO#0700092), DNAH14-related Tags disputed
Red Red List (low evidence)	DNAJA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, DNAJA1-related Tags
Red Red List (low evidence)	DNAJC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 Tags
Red Red List (low evidence)	DNAJC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Parkinson disease 19a, juvenile-onset, MIM#615528 Tags
Red Red List (low evidence)	DOCK8	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations intellectual developmental disorder, autosomal dominant 2, MIM#614113 Tags
Red Red List (low evidence)	DOK7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Myasthenic syndrome, congenital, 10, MIM#254300 Tags
Red Red List (low evidence)	DPM3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 Tags
Red Red List (low evidence)	DPP10	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	DPP6	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability, autosomal dominant 33 (MIM#616311) Tags disputed
Red Red List (low evidence)	DSE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539 Tags
Red Red List (low evidence)	DUOXA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Thyroid dyshormonogenesis 5, MIM#274900 Tags
Red Red List (low evidence)	DYNC2H1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 Tags
Red Red List (low evidence)	DYNC2I2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Short-rib thoracic dysplasia 11 with or without polydactyly OMIM #615633 Tags
Red Red List (low evidence)	EDC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mental retardation, autosomal recessive 50, MIM# 616460 Tags
Red Red List (low evidence)	EDNRB	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Waardenburg syndrome, type 4A, MIM#277580 Tags
Red Red List (low evidence)	EFNB1	1 review 1 red	Other	Sources Expert Review Red Genetic Health Queensland Disease associations Craniofrontonasal dysplasia, MIM# 304110 Tags
Red Red List (low evidence)	EFNB2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability and congenital abnormalities Tags
Red Red List (low evidence)	EIF2AK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual disability white matter abnormalities Tags
Red Red List (low evidence)	EIF2B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	EIF2B5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Leukoencephalopathy with vanishing white matter, MIM#603896 Tags
Red Red List (low evidence)	ELMOD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder MONDO:0700092,ELMOD1-related Tags
Red Red List (low evidence)	ELP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ELP1-related Tags
Red Red List (low evidence)	EN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Disease associations Complex neurodevelopmental disorder, MONDO:0100038 Tags disputed
Red Red List (low evidence)	EOGT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Adams-Oliver syndrome 4, MIM#615297 Tags
Red Red List (low evidence)	EOMES	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Microcephaly Tags
Red Red List (low evidence)	EPB41L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Mental retardation, autosomal dominant 11, MIM# 614257 Tags
Red Red List (low evidence)	EPM2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780 Tags
Red Red List (low evidence)	ERCC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Xeroderma pigmentosum, group F, MIM#278760 XFE progeroid syndrome, MIM# 610965 Tags
Red Red List (low evidence)	ERMARD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Periventricular nodular heterotopia 6, MIM#615544 Tags
Red Red List (low evidence)	ETS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ETS1-related Tags
Red Red List (low evidence)	EVC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ellis-van Creveld syndrome, MIM#225500 Tags
Red Red List (low evidence)	EVC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ellis-van Creveld syndrome, MIM#225500 Tags
Red Red List (low evidence)	FA2H	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Spastic paraplegia 35, autosomal recessive, MIM#612319 Tags
Red Red List (low evidence)	FAAH2	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, FAAH2-related Tags disputed
Red Red List (low evidence)	FAM111A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Kenny-Caffey syndrome, type 2, MIM# 127000 Tags
Red Red List (low evidence)	FBLN5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Cutis laxa, autosomal recessive, type IA, MIM#219100 Tags
Red Red List (low evidence)	FBN1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Marfan syndrome, MIM#154700 Geleophysic dysplasia 2, MIM#614185 Weill-Marchesani syndrome 2, dominant, MIM#608328 Tags disputed
Red Red List (low evidence)	FGF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 Tags
Red Red List (low evidence)	FHIP2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations no OMIM number yet Tags
Red Red List (low evidence)	FLNB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Larsen syndrome, MIM#150250 Tags
Red Red List (low evidence)	FMO4	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 FMO4 related Tags
Red Red List (low evidence)	FSCN1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, FSCN1-related Tags
Red Red List (low evidence)	FTL	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Neurodegeneration with brain iron accumulation 3, MIM#606159 Hyperferritinemia-cataract syndrome, MIM#600886 L-ferritin deficiency, dominant and recessive, MIM#615604 Tags
Red Red List (low evidence)	FZD3	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	G6PC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 Tags
Red Red List (low evidence)	GABRG1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Developmental and epileptic encephalopathy MONDO:0100062 Tags
Red Red List (low evidence)	GAN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Giant axonal neuropathy-1, MIM# 256850 Tags
Red Red List (low evidence)	GAP43	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations neurodevelopmental disorder, MONDO:0700092, GAP43-related Tags
Red Red List (low evidence)	GATA1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GBA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Spastic paraplegia 46, autosomal recessive, MIM#614409 Tags
Red Red List (low evidence)	GBE1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Glycogen storage disease IV, MIM#232500 Tags
Red Red List (low evidence)	GBX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GBX1-related Tags
Red Red List (low evidence)	GCK	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Diabetes mellitus, permanent neonatal 606176 Tags
Red Red List (low evidence)	GHR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Growth hormone insensitivity, partial, MIM#604271 Laron dwarfism, MIM#262500 Tags
Red Red List (low evidence)	GJA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Atrioventricular septal defect 3, MIM#600309 Craniometaphyseal dysplasia, autosomal recessive, MIM#218400 Erythrokeratodermia variabilis et progressiva 3, MIM#617525 Hypoplastic left heart syndrome 1, MIM#241550 Oculodentodigital dysplasia, MIM#164200 Oculodentodigital dysplasia, autosomal recessive, MIM#257850 Palmoplantar keratoderma with congenital alopecia, MIM#104100 Syndactyly, type III, MIM# 186100 Tags
Red Red List (low evidence)	GJB1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 Tags
Red Red List (low evidence)	GLRA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hyperekplexia 1, MIM# 149400 Tags
Red Red List (low evidence)	GLUD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Hyperinsulinism-hyperammonemia syndrome, MIM#606762 Tags
Red Red List (low evidence)	GLYAT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GLYAT-related Tags
Red Red List (low evidence)	GNA14	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GOSR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, progressive myoclonic 6, MIM#614018 Tags
Red Red List (low evidence)	GPSM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Chudley-McCullough syndrome, MIM#604213 Tags
Red Red List (low evidence)	GRPR	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GTF2H4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Xeroderma pigmentosum, complementation group J, MIM# 621435 Tags
Red Red List (low evidence)	GTF2IRD1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	GYS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Glycogen storage disease 0, liver, MIM#240600 Tags
Red Red List (low evidence)	H19	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Beckwith-Wiedemann syndrome, MIM#130650 Silver-Russell syndrome, MIM#180860 Tags non-coding gene
Red Red List (low evidence)	HADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530 Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 Tags
Red Red List (low evidence)	HAL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations [Histidinemia], MIM#235800 Tags
Red Red List (low evidence)	HARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Perrault syndrome 2, MIM# 614926 Tags
Red Red List (low evidence)	HOXD10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Vertical talus, congenital, MIM#192950 Tags
Red Red List (low evidence)	HYPK	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, HYPK-related Tags
Red Red List (low evidence)	IFT140	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920 Tags
Red Red List (low evidence)	IGBP1	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, MIM# 300472 Tags disputed
Red Red List (low evidence)	IGF2	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Growth restriction, severe, with distinctive facies, MIM#616489 Tags
Red Red List (low evidence)	IMMP2L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Autism Tags
Red Red List (low evidence)	INS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Diabetes mellitus, permanent neonatal, MIM#606176 Tags
Red Red List (low evidence)	INSR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190 Tags
Red Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572 Tags
Red Red List (low evidence)	IYD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Thyroid dyshormonogenesis 4, MIM#274800 Tags
Red Red List (low evidence)	JAG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Alagille syndrome 1, MIM#118450 Tags
Red Red List (low evidence)	KANK1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Cerebral palsy, spastic quadriplegic, 2, MIM#612900 Tags
Red Red List (low evidence)	KATNAL2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Autism Tags disputed
Red Red List (low evidence)	KCNC3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Spinocerebellar ataxia 13, MIM#605259 Tags
Red Red List (low evidence)	KCNJ11	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations {Diabetes mellitus, type 2, susceptibility to} 125853 Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Maturity-onset diabetes of the young, type 13 616329 AD Tags
Red Red List (low evidence)	KCTD13	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Neurodevelopmental disorder (MONDO#0700092), KCTD13-related Tags
Red Red List (low evidence)	KIF16B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability Tags
Red Red List (low evidence)	KIF1B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hypotonia coloboma hypoplasia of the corpus callosum severe neurodevelopmental delay Tags
Red Red List (low evidence)	KIRREL3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability Tags disputed
Red Red List (low evidence)	KLF8	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	KLLN	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	KYNU	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Hydroxykynureninuria, MIM#236800 Tags
Red Red List (low evidence)	LBR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Greenberg skeletal dysplasia, MIM#215140 3 Pelger-Huet anomaly, MIM#169400 Tags
Red Red List (low evidence)	LGI4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 Tags
Red Red List (low evidence)	LHX3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Pituitary hormone deficiency, combined, 3 (MIM#221750) Tags
Red Red List (low evidence)	LMNA	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	LRP5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Exudative vitreoretinopathy 4, MIM# 601813 Hyperostosis, endosteal, MIM# 144750 Osteopetrosis, autosomal dominant 1, MIM# 607634 Osteoporosis-pseudoglioma syndrome, MIM# 259770 Osteosclerosis, MIM# 144750 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 van Buchem disease, type 2 607636 Tags
Red Red List (low evidence)	LSM11	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Aicardi-Goutieres syndrome 8, MIM# 619486 Tags
Red Red List (low evidence)	MACROD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Syndromic disease, MONDO:0002254, MACROD2-related Tags
Red Red List (low evidence)	MAGT1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Disease associations X-linked intellectual disability MONDO:0100284 Congenital disorder of glycosylation, type Icc, OMIM #301031 Tags disputed
Red Red List (low evidence)	MARK4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), MARK4-related Tags
Red Red List (low evidence)	MARS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations ?Combined oxidative phosphorylation deficiency 25, OMIM #616430 Spastic ataxia 3, autosomal recessive, OMIM #611390 Tags
Red Red List (low evidence)	MCM4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Immunodeficiency 54 OMIM #609981 Tags
Red Red List (low evidence)	MED14	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), MED14-related Tags
Red Red List (low evidence)	MELK	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MELK-related Tags
Red Red List (low evidence)	MEPCE	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Intellectual disability seizures no OMIM number yet Tags
Red Red List (low evidence)	MET	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations complex neurodevelopmental disorder, MONDO:0100038 Tags disputed
Red Red List (low evidence)	METAP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual disability, aggression, neurodevelopmental delay Tags
Red Red List (low evidence)	MFN2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087 Hereditary motor and sensory neuropathy VIA, OMIM #601152 Tags
Red Red List (low evidence)	MGME1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mitochondrial DNA depletion syndrome 11 OMIM#615084 Tags
Red Red List (low evidence)	MGP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Keutel syndrome OMIM #245150 Tags
Red Red List (low evidence)	MID2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Disease associations ?Mental retardation, X-linked 101 OMIM#300928 Tags
Red Red List (low evidence)	MIS18BP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cornelia de Lange syndrome (MONDO:0016033) Tags
Red Red List (low evidence)	MLH1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mismatch repair cancer syndrome, OMIM #276300 Muir-Torre syndrome, OMIM #158320 Tags
Red Red List (low evidence)	MNX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Currarino syndrome OMIM #176450 Tags
Red Red List (low evidence)	MPI	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Congenital disorder of glycosylation, type Ib, MIM# 602579 MPI-CDG MONDO:0011257 Tags
Red Red List (low evidence)	MPZ	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Various CMT types Tags
Red Red List (low evidence)	MRAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Glucocorticoid deficiency 2 OMIM #607398 Tags
Red Red List (low evidence)	MRPS16	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Combined oxidative phosphorylation deficiency 2 OMIM #610498 Tags
Red Red List (low evidence)	MSH6	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350 Mismatch repair cancer syndrome, OMIM #276300 Tags
Red Red List (low evidence)	MTM1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Disease associations Myotubular myopathy, X-linked OMIM#310400 Tags
Red Red List (low evidence)	MTMR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Charcot-Marie-Tooth disease, type 4B1 OMIM #601382 Tags
Red Red List (low evidence)	MTPAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations ?Spastic ataxia 4, autosomal recessive OMIM#613672 Tags
Red Red List (low evidence)	MYCBP2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, MYCBP2-related corpus callosum abnormalities Tags
Red Red List (low evidence)	MYH3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700 Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436 Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110 Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469 Tags
Red Red List (low evidence)	MYMK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Carey-Fineman-Ziter syndrome OMIM #254940 Tags
Red Red List (low evidence)	MYO7A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Deafness, autosomal dominant 11, OMIM #601317 Deafness, autosomal recessive 2, OMIM #600060 Usher syndrome, type 1B, OMIM #276900 Tags
Red Red List (low evidence)	MYT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Intellectual disability Tags
Red Red List (low evidence)	NAA30	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations neurodevelopmental disorder, MONDO:0700092, NAA30-related Tags
Red Red List (low evidence)	NAGS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations N-acetylglutamate synthase deficiency, MIM#237310 Tags
Red Red List (low evidence)	NAT8L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	NDN	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Prader-Willi syndrome, MIM# 176270 Tags
Red Red List (low evidence)	NEGR1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	NFE2L1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Syndromic disease, MONDO:0002254 Tags
Red Red List (low evidence)	NGF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654 Tags
Red Red List (low evidence)	NHEJ1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 Tags
Red Red List (low evidence)	NHLRC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, progressive myoclonic 2B (Lafora), MIM#254780 Tags
Red Red List (low evidence)	NIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Seckel syndrome 7, MIM#614851 Tags
Red Red List (low evidence)	NOP10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Tags
Red Red List (low evidence)	NOP58	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, NOP58-related Tags
Red Red List (low evidence)	NRXN2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Autism Tags
Red Red List (low evidence)	NTNG1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	NUP62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Striatonigral degeneration, infantile, MIM#271930 Tags
Red Red List (low evidence)	ORC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Meier-Gorlin syndrome 1, MIM# 224690 Tags
Red Red List (low evidence)	ORC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Meier-Gorlin syndrome 2 OMIM #613800 Tags
Red Red List (low evidence)	ORC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Meier-Gorlin syndrome 3 OMIM #613803 Tags
Red Red List (low evidence)	PANK2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Neurodegeneration with brain iron accumulation 1, MIM#234200 Tags
Red Red List (low evidence)	PAX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Papillorenal syndrome, MIM#120330 Tags
Red Red List (low evidence)	PAX3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Craniofacial-deafness-hand syndrome, MIM#122880 Waardenburg syndrome, type 1, MIM#193500 Waardenburg syndrome, type 3, MIM#148820 Tags
Red Red List (low evidence)	PAX7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Myopathy, congenital, progressive, with scoliosis, MIM# 618578 Tags
Red Red List (low evidence)	PCBD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hyperphenylalaninemia, BH4-deficient, D, MIM#264070 Tags
Red Red List (low evidence)	PCDH10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Autism Tags
Red Red List (low evidence)	PCDH15	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Deafness, autosomal recessive 23, MIM#609533 Tags
Red Red List (low evidence)	PCDH9	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	PDE11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Pigmented nodular adrenocortical disease, primary, 2, MIM#610475 Tags
Red Red List (low evidence)	PDGFB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Basal ganglia calcification, idiopathic, 5, MIM#615483 Tags
Red Red List (low evidence)	PDSS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Coenzyme Q10 deficiency, primary, 3 MIM#614652 Tags
Red Red List (low evidence)	PHKA2	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Genetic Health Queensland Disease associations Glycogen storage disease, type IXa1, MIM#306000 Tags
Red Red List (low evidence)	PHKG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Glycogen storage disease IXc, MIM#613027 Tags
Red Red List (low evidence)	PIGF	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Tags
Red Red List (low evidence)	PIK3C3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cornelia de Lange syndrome - MONDO:0016033 Tags
Red Red List (low evidence)	PIK3R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations SHORT syndrome, MIM#269880 Tags
Red Red List (low evidence)	PINK1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Parkinson disease 6, early onset, MIM#605909 Tags
Red Red List (low evidence)	PIP5K1B	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	PNP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM#613179 Tags
Red Red List (low evidence)	POLD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual disability immunodeficiency Tags
Red Red List (low evidence)	POLD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual disability immunodeficiency Tags
Red Red List (low evidence)	POLR3D	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Leukodystrophy, MONDO:0019046, POLR3D-related Tags
Red Red List (low evidence)	PON3	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	POP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Anauxetic dysplasia 2, MIM#617396 Tags
Red Red List (low evidence)	POU1F1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Pituitary hormone deficiency, combined, 1, MIM# 613038 Tags
Red Red List (low evidence)	PPID	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Stutter disorder, (MONDO:0000723), PPID-related Tags
Red Red List (low evidence)	PPOX	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Porphyria variegata, MIM#176200 Tags
Red Red List (low evidence)	PPP1R2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, PPP1R2-related Tags
Red Red List (low evidence)	PPP2R5E	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Disease associations Mendelian neurodevelopmental disorder MONDO:0100500 Tags
Red Red List (low evidence)	PRDM8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, progressive myoclonic, 10, MIM#616640 Tags
Red Red List (low evidence)	PREPL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Myasthenic syndrome, congenital, 22, MIM#616224 Tags
Red Red List (low evidence)	PRF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 Tags
Red Red List (low evidence)	PRICKLE1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, progressive myoclonic 1B, MIM#612437 Tags disputed
Red Red List (low evidence)	PRKDC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Immunodeficiency 26, with or without neurologic abnormalities, MIM#615966 Tags
Red Red List (low evidence)	PRKN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Parkinson disease, juvenile, type 2, MIM#600116 Tags
Red Red List (low evidence)	PRKRA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Dystonia 16, MIM#612067 Tags
Red Red List (low evidence)	PROSER1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Syndromic disease MONDO:0002254, PROSER1-related Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM # Tags founder
Red Red List (low evidence)	PRRX1	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Agnathia-otocephaly complex, MIM#202650 Tags
Red Red List (low evidence)	PRX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Charcot-Marie-Tooth disease, type 4F, MIM#614895 Tags
Red Red List (low evidence)	PSMC1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Birk-Aharoni syndrome MIM# 620071 Tags
Red Red List (low evidence)	PYGL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Glycogen storage disease VI, MIM#232700 Tags
Red Red List (low evidence)	QSER1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, QSER1-related Tags
Red Red List (low evidence)	RAB27A	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Griscelli syndrome, type 2, MIM#607624 Tags
Red Red List (low evidence)	RAB40AL	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE Tags refuted
Red Red List (low evidence)	RAB5IF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994 Tags new gene name
Red Red List (low evidence)	RALGAPB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorders, autism Tags
Red Red List (low evidence)	RANBP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033 Tags
Red Red List (low evidence)	RAPSN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326 Tags
Red Red List (low evidence)	RASA1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Red Tags
Red Red List (low evidence)	RAX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations MICROPHTHALMIA, ISOLATED 3 MCOP3 Tags
Red Red List (low evidence)	RBFOX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related Tags
Red Red List (low evidence)	RBM8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Thrombocytopenia-absent radius syndrome, MIM#274000 Tags
Red Red List (low evidence)	RBPJ	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Adams-Oliver syndrome 3, MIM#614814 Tags
Red Red List (low evidence)	RDH14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, RDH14-related Tags
Red Red List (low evidence)	RECQL4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Baller-Gerold syndrome, MIM#218600 RAPADILINO syndrome, MIM#266280 Rothmund-Thomson syndrome, type 2,MIM#268400 Tags
Red Red List (low evidence)	RET	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Central hypoventilation syndrome, congenital, MIM#209880 Medullary thyroid carcinoma, MIM#155240 Multiple endocrine neoplasia IIA, MIM#171400 Multiple endocrine neoplasia IIB, MIM#162300 Tags
Red Red List (low evidence)	RFX6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Mitchell-Riley syndrome, MIM#615710 Tags
Red Red List (low evidence)	RIMS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Autism Cone-rod dystrophy 7 , MIM#603649 Tags
Red Red List (low evidence)	RIN2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075 Tags
Red Red List (low evidence)	RNF135	2 reviews 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RNH1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, RNH1-related Tags
Red Red List (low evidence)	RPL11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Diamond-Blackfan anemia 7, MIM#612562 Tags
Red Red List (low evidence)	RPS19	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Diamond-Blackfan anemia 1, MIM#105650 Tags
Red Red List (low evidence)	RPS28	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM#606164 Tags
Red Red List (low evidence)	RUBCN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Red Red List (low evidence)	SALL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Townes-Brocks syndrome 1, MIM#107480 Tags
Red Red List (low evidence)	SAMD9L	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Disease associations Intellectual disability Tags
Red Red List (low evidence)	SBDS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Shwachman-Diamond syndrome, MIM#260400 Tags
Red Red List (low evidence)	SCN11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Neuropathy, hereditary sensory and autonomic, type VII, MIM#615548 Tags
Red Red List (low evidence)	SCN9A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863 HSAN2D, autosomal recessive, MIM#243000 Tags
Red Red List (low evidence)	SCO1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Red Red List (low evidence)	SEC24C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SEC24C-related Tags
Red Red List (low evidence)	SELENON	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Muscular dystrophy, rigid spine, 1, MIM# 602771 Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Tags
Red Red List (low evidence)	SF3B4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Acrofacial dysostosis 1, Nager type, MIM#154400 Tags
Red Red List (low evidence)	SGCA	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Muscular dystrophy, limb-girdle, autosomal recessive 3, MIM#608099 Tags
Red Red List (low evidence)	SH3TC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Charcot-Marie-Tooth disease, type 4C, MIM#601596 Tags
Red Red List (low evidence)	SHROOM4	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations Stocco dos Santos X-linked mental retardation syndrome, 300434 Intellectual disability Tags disputed
Red Red List (low evidence)	SLC12A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Bartter syndrome, type 1, MIM#601678 Tags
Red Red List (low evidence)	SLC19A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Thiamine-responsive megaloblastic anemia syndrome, MIM#249270 Tags
Red Red List (low evidence)	SLC1A3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Episodic ataxia, type 6, MIM#612656 Tags
Red Red List (low evidence)	SLC22A5	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Disease associations Carnitine deficiency, systemic primary, MIM#212140 Tags
Red Red List (low evidence)	SLC25A13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Citrullinemia, type II, neonatal-onset, MIM#605814 Tags
Red Red List (low evidence)	SLC25A19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Microcephaly, Amish type, MIM#607196 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Tags
Red Red List (low evidence)	SLC25A20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Carnitine-acylcarnitine translocase deficiency, MIM#212138 Tags
Red Red List (low evidence)	SLC25A24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Fontaine progeroid syndrome, MIM#612289 Tags
Red Red List (low evidence)	SLC25A4	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283 Tags
Red Red List (low evidence)	SLC27A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Tags
Red Red List (low evidence)	SLC29A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Histiocytosis-lymphadenopathy plus syndrome OMIM #602782 Tags
Red Red List (low evidence)	SLC2A10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Arterial tortuosity syndrome OMIM #208050 Tags
Red Red List (low evidence)	SLC39A4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Acrodermatitis enteropathica OMIM #201100 Tags
Red Red List (low evidence)	SLC44A1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Red Red List (low evidence)	SLC5A2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Renal glucosuria OMIM #233100 Tags
Red Red List (low evidence)	SLC6A4	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations autism spectrum disorder MONDO:0005258 {Obsessive-compulsive disorder}, MIM# 164230 Tags disputed
Red Red List (low evidence)	SLC7A7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Lysinuric protein intolerance, MIM# 222700 Tags
Red Red List (low evidence)	SLC9A9	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Disease associations {?Autism susceptibility 16}, MIM# 613410 Tags disputed
Red Red List (low evidence)	SLX4	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Fanconi anaemia, complementation group P, MIM# 613951 Tags
Red Red List (low evidence)	SMCHD1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Bosma arhinia microphthalmia syndrome, OMIM #603457 Fascioscapulohumeral muscular dystrophy 2, digenic OMIM #158901 Tags
Red Red List (low evidence)	SMG6	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	SNRPA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations no OMIM # yet Tags
Red Red List (low evidence)	SNRPE	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Hypotrichosis 11 OMIM #615059 Tags
Red Red List (low evidence)	SOBP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Impaired intellectual development, anterior maxillary protrusion, and strabismus, MIM# 613671 Tags
Red Red List (low evidence)	SOST	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Craniodiaphyseal dysplasia, autosomal dominant, OMIM #122860 Sclerosteosis 1 , OMIM #269500 Van Buchem disease, OMIM #239100 Tags
Red Red List (low evidence)	SOX8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), SOX8-related Tags
Red Red List (low evidence)	SP7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Osteogenesis imperfecta, type XII OMIM # 613849 Tags
Red Red List (low evidence)	SPAG9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SPAG9-related Tags
Red Red List (low evidence)	SPAST	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Spastic paraplegia 4, autosomal dominant, MIM# 182601 Tags
Red Red List (low evidence)	SPEG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Centronuclear myopathy 5 OMIM #615959 Tags
Red Red List (low evidence)	SPG7	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Spastic paraplegia 7, autosomal recessive OMIM #607259 Tags
Red Red List (low evidence)	SPINK5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Netherton syndrome OMIM #256500 Tags
Red Red List (low evidence)	SPRTN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Ruijs-Aalfs syndrome, MIM# 616200 Tags
Red Red List (low evidence)	SPTBN5	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SPTBN5-related Tags disputed
Red Red List (low evidence)	SPTLC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Neuropathy, hereditary sensory and autonomic, type IA OMIM #162400 Tags
Red Red List (low evidence)	SRPX2	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations Rolandic epilepsy, mental retardation, and speech dyspraxia, MIM# 300643 Tags refuted
Red Red List (low evidence)	ST7	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	STAC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Myopathy, congenital, Baily-Bloch OMIM #255995 Tags
Red Red List (low evidence)	STAT5B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Growth hormone insensitivity with immunodeficiency OMIM #245590 Tags
Red Red List (low evidence)	STK3	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	STT3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations ?Congenital disorder of glycosylation, type Ix OMIM #615597 Tags
Red Red List (low evidence)	STX11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hemophagocytic lymphohistiocytosis, familial, 4, MIM# 603552 Tags
Red Red List (low evidence)	SYNE2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, SYNE2 related Tags
Red Red List (low evidence)	SYT14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229 Tags
Red Red List (low evidence)	TECR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Mental retardation, autosomal recessive, MIM#614020 Tags
Red Red List (low evidence)	TFAP2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Branchiooculofacial syndrome OMIM #113620 Tags
Red Red List (low evidence)	TFAP2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Char syndrome, OMIM #169100 Patent ductus arteriosus 2, OMIM #617035 Tags
Red Red List (low evidence)	TFG	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations ?Spastic paraplegia 57, autosomal recessive, OMIM #615658 Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484 Tags
Red Red List (low evidence)	TG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Thyroid dyshormonogenesis 3 OMIM #274700 Tags
Red Red List (low evidence)	TGFBR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Loeys-Dietz syndrome 1 OMIM #609192 Tags
Red Red List (low evidence)	TGFBR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Loeys-Dietz syndrome 2 OMIM #610168 Tags
Red Red List (low evidence)	THAP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Dystonia 6, torsion OMIM #602629 Tags
Red Red List (low evidence)	TIMM8A	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Disease associations Mohr-Tranebjaerg syndrome OMIM #304700 Tags
Red Red List (low evidence)	TMEM260	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Structural heart defects and renal anomalies syndrome, MIM# 617478 Tags
Red Red List (low evidence)	TMLHE	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations {Autism, susceptibility to, X-linked 6} 300872 Tags disputed
Red Red List (low evidence)	TMPRSS7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, TMPRSS7-related Tags
Red Red List (low evidence)	TP63	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Tags
Red Red List (low evidence)	TPH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations {Attention deficit-hyperactivity disorder, susceptibility to, 7} 613003 Tags
Red Red List (low evidence)	TPK1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458 Tags
Red Red List (low evidence)	TPR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red Red List (low evidence)	TRAPPC6A	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	TREM2	1 review 1 red	Unknown	Sources Expert list Expert Review Red Disease associations Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 OMIM #618193 Tags
Red Red List (low evidence)	TRHR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Hypothyroidism, congenital, nongoitrous, 7 OMIM #618573 Tags
Red Red List (low evidence)	TRIM32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Bardet-Biedl syndrome 11, MIM# 615988 Tags
Red Red List (low evidence)	TRIM37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mulibrey nanism OMIM #253250 Tags
Red Red List (low evidence)	TRIM74	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, TRIM74-related, MONDO:0700092 Tags
Red Red List (low evidence)	TRMT1L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related Tags
Red Red List (low evidence)	TSEN34	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Pontocerebellar hypoplasia type 2C, MIM# 612390 Tags
Red Red List (low evidence)	TSHR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200 Tags
Red Red List (low evidence)	TTBK1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092 Tags
Red Red List (low evidence)	TTC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Pontocerebellar hypoplasia, MONDO:0020135, TTC1-related Tags
Red Red List (low evidence)	TTC21B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Nephronophthisis 12, OMIM #613820 Short-rib thoracic dysplasia 4 with or without polydactyly OMIM #613819 Tags
Red Red List (low evidence)	TTR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Amyloidosis, hereditary, transthyretin-related, OMIM #105210 Carpal tunnel syndrome, familial OMIM #115430 Tags
Red Red List (low evidence)	TUBA8	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180 Tags disputed
Red Red List (low evidence)	TWNK	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245 Perrault syndrome 5, OMIM #616138 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286 Tags
Red Red List (low evidence)	TXNL4A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Burn-McKeown syndrome, MIM# 608572 Tags
Red Red List (low evidence)	UBE2U	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Retinoschisis cataracts learning disabilities developmental delay Tags
Red Red List (low evidence)	UBR4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Disease associations Episodic ataxia Tags
Red Red List (low evidence)	UCHL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Spastic paraplegia 79, autosomal recessive OMIM #615491 Tags
Red Red List (low evidence)	UGT1A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Crigler-Najjar syndrome, type I, OMIM #218800 Crigler-Najjar syndrome, type II, OMIM #606785 Tags
Red Red List (low evidence)	UNC13D	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Hemophagocytic lymphohistiocytosis, familial, 3 OMIM #608898 Tags
Red Red List (low evidence)	UQCRB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mitochondrial complex III deficiency, nuclear type 3 OMIM #615158 Tags
Red Red List (low evidence)	UQCRC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mitochondrial complex III deficiency, nuclear type 5 OMIM #615160 Tags
Red Red List (low evidence)	UQCRQ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Mitochondrial complex III deficiency, nuclear type 4 OMIM #615159 Tags
Red Red List (low evidence)	UROC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Urocanase deficiency, MIM#276880 Tags
Red Red List (low evidence)	VAMP1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Spastic ataxia 1, autosomal dominant, OMIM #108600 Myasthenic syndrome, congenital, 25, OMIM #618323 Tags
Red Red List (low evidence)	VANGL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Caudal regression syndrome, OMIM #600145 {Neural tube defects, susceptibility to}, OMIM #182940 Tags
Red Red List (low evidence)	VPS26C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder (MONDO:0700092), DSCR3-related Tags
Red Red List (low evidence)	VPS45	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Neutropenia, severe congenital, 5, autosomal recessive OMIM #615285 Tags
Red Red List (low evidence)	WASHC3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations neurodevelopmental disorder MONDO:0700092, WASHC3 related Tags
Red Red List (low evidence)	WASHC5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Spastic paraplegia 8, autosomal dominant, OMIM #603563 Ritscher-Schinzel syndrome 1 OMIM #220210 Tags
Red Red List (low evidence)	WDR13	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	WDR18	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Cornelia de Lange syndrome - MONDO:0016033 Tags
Red Red List (low evidence)	WDR19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376 Nephronophthisis 13, OMIM #614377 Senior-Loken syndrome 8, OMIM#616307 Tags
Red Red List (low evidence)	WDR83	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, WDR83-related Tags
Red Red List (low evidence)	WRAP53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Dyskeratosis congenita, autosomal recessive 3 OMIM# 613988 Tags
Red Red List (low evidence)	WWP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, WWP1-related Tags
Red Red List (low evidence)	XIST	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	XPNPEP3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Disease associations Nephronophthisis-like nephropathy 1, OMIM #613159 Tags
Red Red List (low evidence)	ZCCHC12	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ZDHHC15	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations Intellectual disability, X-linked 91, 300577 Tags disputed
Red Red List (low evidence)	ZFP57	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Red Disease associations {Diabetes mellitus, transient neonatal, 1} OMIM# 601410 Tags
Red Red List (low evidence)	ZNF185	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Disease associations Cerebrooculonasal syndrome MONDO:0011575, ZNF185-related Tags
Red Red List (low evidence)	ZNF41	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations non-syndromic X-linked intellectual disability MONDO:0019181 Tags disputed
Red Red List (low evidence)	ZNF423	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Joubert syndrome 19, OMIM# 614844 Tags
Red Red List (low evidence)	ZNF496	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, ZNF496-related Tags
Red Red List (low evidence)	ZNF507	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
Red Red List (low evidence)	ZNF674	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Disease associations X-linked intellectual disability MONDO:0100284 Tags disputed
Red Red List (low evidence)	ZNF804A	1 review 1 red	Unknown	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	ZNF81	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Disease associations X-linked intellectual disability MONDO:0100284 Tags disputed
Red Red List (low evidence)	ZNHIT6	1 review 1 red	Unknown	Sources Expert Review Red Genetic Health Queensland Tags
No list No list	DMPK	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Genetic Health Queensland Disease associations Myotonic dystrophy 1, MIM#160900 Tags STR

Intellectual disability syndromic and non-syndromic (Version 2.0)

118 reviewers

2610 Entities

2610 reviewed, 1882 green

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