Intellectual disability syndromic and non-syndromic (Version 2.0)

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

65 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
Chris Richmond (Genetic Health Queensland)
Andrew Fennell (Monash Genetics)
Paul De Fazio (Victorian Clinical Genetics Services)
Kaitlyn Dianna Weldon (University of Melbourne)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Anna Le Fevre (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Arina Puzriakova (Genomics England)
Mitchell O'Brien (CSIRO)
Lloyd Pereira (Peter MacCallum Cancer Centre)
Lyndon Gallacher (Victorian Clinical Genetics Services)
Ken Lee Wan (Monash Health)
Mark Cleghorn (Royal Melbourne Hospital)
Sarah Leigh (Genomics England)
Rylee Peters (Victorian Clinical Genetics Services)
Ibrahim El-Deek (Other)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
David Fairbairn (Other)
Aaron Meyers (University of Melbourne)
Suliman Khan (Victorian Clinical Genetics Services)
Amy Chiang (Other)
Sangavi Sivagnanasundram (Melbourne Health)
Chirag Patel (Genetic Health Queensland)
Achchuthan Shanmugasundram (Genomics England)
Michelle Torres (Victorian Clinical Genetics Services)
Lisa Norbart (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Claire Fryer-Smith (University of Melbourne)
Naomi Baker (Victorian Clinical Genetics Services)
Hali Van Niel (University of Melbourne)
James The (Monash University)
Adam Ivey (The Alfred Hospital)
sabitha sateesh (Other)
Paul De Fazio (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Chris Ciotta (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Melanie Marty (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Tinashe Nhindiri (Other)
Raluca Rusu (Other)
Shani Stuart (Other)
Kirsty Choi (University of Melbourne)
Santosh Varughese (University of Melbourne)
Reetoo Ramessur (Other)
Jane Lin (The Alfred Hospital)
Tashunka Taylor-Miller (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Sarah Milton (Victorian Clinical Genetics Services)
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)

453 Entities

reviewed, green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 453 Entitiess
Green Green List (high evidence)	ACBD6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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)	ACTL6B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 76, MIM# 618468 Intellectual developmental disorder with severe speech and ambulation defects, MIM# 618470 Tags
Green Green List (high evidence)	ADGRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Polymicrogyria, bilateral frontoparietal, MIM# 606854 Tags 5'UTR
Green Green List (high evidence)	ADNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Helsmoortel-van der Aa syndrome MIM#615873 MONDO:0014379 Tags
Green Green List (high evidence)	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Xia-Gibbs syndrome, MIM# 615829 AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358 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 Phenotypes Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Green Green List (high evidence)	AKT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Spastic paraplegia 9B, autosomal recessive, MIM# 616586 Tags
Green Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Glycine encephalopathy MIM#605899 Tags
Green Green List (high evidence)	AP2S1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, AP2S1-related Tags
Green Green List (high evidence)	ARF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes 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)	ARPC4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, language impairment, and ocular abnormalities, MIM# 620141 Tags
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Canavan disease MIM#271900 Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Citrullinemia MIM#215700 Tags treatable
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Bohring-Opitz syndrome , MIM#605039 Tags
Green Green List (high evidence)	ATG4D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, ATG4D-related Tags
Green Green List (high evidence)	ATP2B2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green Green List (high evidence)	ATP5O	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Tags new gene name
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 Phenotypes Congenital disorder of glycosylation, type IIr MIM#301045 Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 Tags
Green Green List (high evidence)	ATP6V0C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Epilepsy, early-onset, with or without developmental delay, MIM#620465 Epilepsy Intellectual Disability microcephaly Tags SV/CNV
Green Green List (high evidence)	ATP9A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and behavioural abnormalities, MIM# 620242 Tags
Green Green List (high evidence)	BBIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes Bardet-Biedl syndrome 10 MONDO:0014438 Tags
Green Green List (high evidence)	BBS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 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 Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes maple syrup urine disease type 1A MONDO:0023691 Tags treatable
Green Green List (high evidence)	BHLHE22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related Tags
Green Green List (high evidence)	BLOC1S1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cardiofaciocutaneous syndrome (MIM# 115150) Noonan syndrome (MIM# 613706) LEOPARD syndrome (MIM# 613707) 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 Phenotypes Cornelia de Lange syndrome Tags
Green Green List (high evidence)	BRF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease, MONDO:0002254, BRF2-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 Phenotypes Intellectual developmental disorder, X-linked 93, MIM # 300659 Tags
Green Green List (high evidence)	BSN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO:0700092), BSN-related Tags
Green Green List (high evidence)	C5orf42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 17, MIM# 614615 MONDO:0013824 Orofaciodigital syndrome VI, MIM# 277170 Tags new gene name
Green Green List (high evidence)	CACHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes developmental and epileptic encephalopathy, 42 MONDO:0014917 Tags
Green Green List (high evidence)	CACNA1I	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114 Tags
Green Green List (high evidence)	CAMSAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316 Tags
Green Green List (high evidence)	CBS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Neurodevelopmental disorder (MONDO#0700092), CBX1-related Tags
Green Green List (high evidence)	CCDC186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, CCDC186-related Tags
Green Green List (high evidence)	CCND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938 Neurodevelopmental disorder, CCND2-related MONDO: 0700092 Microcephaly, MONDO: 0001149 Tags
Green Green List (high evidence)	CCT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, CCT6A-related Tags
Green Green List (high evidence)	CDK10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Al Kaissi syndrome MIM#617694 Tags
Green Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	CHMP1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pontocerebellar hypoplasia, type 8, MIM# 614961 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 Phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, MIM# 619512 Neurodevelopmental disorder with seizures and brain abnormalities, MIM# 619517 Tags
Green Green List (high evidence)	CLN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 3 MIM#204200 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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)	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 Phenotypes Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green Green List (high evidence)	COQ5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 9 MIM#619028 Tags
Green Green List (high evidence)	COX4I1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060 Tags
Green Green List (high evidence)	CPSF3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876 Tags
Green Green List (high evidence)	CRLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes neurodevelopmental disorder, MONDO:0700092, CRMP2-related Tags
Green Green List (high evidence)	CSPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTR9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), CTR9-related Tags
Green Green List (high evidence)	CUL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Maple syrup urine disease, type II (MIM#248600) Tags treatable
Green Green List (high evidence)	DCHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Van Maldergem syndrome 1, MIM# 601390 Tags
Green Green List (high evidence)	DDB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes White-Kernohan syndrome, MIM# 619426 Tags
Green Green List (high evidence)	DDX17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Neurodevelopmental disorder, MONDO:0700092, DDX23-related Tags
Green Green List (high evidence)	DHCR7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Developmental delay and seizures with or without movement abnormalities, MIM#617836 Tags
Green Green List (high evidence)	DIAPH1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Holoprosencephaly 10, MIM# 621143 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 Phenotypes 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 Phenotypes Intellectual developmental disorder 62, MIM# 618793 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 Phenotypes Duchenne muscular dystrophy MIM#310200 Tags SV/CNV
Green Green List (high evidence)	DNM1L	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Literature Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726 Tags
Green Green List (high evidence)	DOCK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 23 MIM#615859 MONDO:0014371 Tags
Green Green List (high evidence)	EDEM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type 2V, MIM# 619493 Tags
Green Green List (high evidence)	EHMT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Kleefstra syndrome 1, MIM# 610253 MONDO:0027407 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)	EIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Faundes-Banka syndrome, MIM# 619376 Intellectual disability microcephaly dysmorphism Tags
Green Green List (high evidence)	EMC1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875 Tags
Green Green List (high evidence)	EP400	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Tags
Green Green List (high evidence)	EPRS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 15 (MIM#617951) Tags
Green Green List (high evidence)	ERCC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes xeroderma pigmentosum group B MONDO:0012531 Tags
Green Green List (high evidence)	ERCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 Tags
Green Green List (high evidence)	ESAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Roberts-SC phocomelia syndrome MONDO:0100253 Tags
Green Green List (high evidence)	EZH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Weaver syndrome MIM#277590 Tags
Green Green List (high evidence)	FAM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes hypomyelinating leukodystrophy 5 MONDO:0012514 Tags
Green Green List (high evidence)	FAM177A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with white matter abnormalities and gait disturbance, MIM# 621152 Tags
Green Green List (high evidence)	FASTKD5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431 Tags
Green Green List (high evidence)	FBXO22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, FBXO22-related Tags
Green Green List (high evidence)	FEZF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FEZF2-related 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 Phenotypes 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 Phenotypes Spinocerebellar ataxia 27, MIM# 609307 Vestibulocerebellar disorder with predominant ocular signs, MIM# 193003 Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Myopathy caused by variation in FKTN MONDO:0700067 Tags
Green Green List (high evidence)	FLVCR1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes fragile X syndrome MONDO:0010383 Tags STR
Green Green List (high evidence)	FOSL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Tags
Green Green List (high evidence)	FOXP4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), FOXP4-related Tags
Green Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green Green List (high evidence)	FTO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes Fucosidosis MONDO:0009254 Tags
Green Green List (high evidence)	FUK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324 Tags
Green Green List (high evidence)	GABBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and variable cognitive abnormalities, MIM#620502 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 Phenotypes 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 Phenotypes Neurodevelopmental disorder MONDO:0700092, GABRA4-related Tags
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes galactose epimerase deficiency MONDO:0009257 Tags treatable
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes guanidinoacetate methyltransferase deficiency MONDO:0012999 Tags treatable
Green Green List (high evidence)	GCH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Tags
Green Green List (high evidence)	GFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Combined oxidative phosphorylation deficiency 39, OMIM #618397 Tags
Green Green List (high evidence)	GJC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes hypomyelinating leukodystrophy 2 MONDO:0012125 hereditary spastic paraplegia 44 MONDO:0013179 Tags
Green Green List (high evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes Greig cephalopolysyndactyly syndrome MONDO:0008287 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 Phenotypes 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 Phenotypes 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 Phenotypes alacrima, achalasia, and intellectual disability syndrome MONDO:0014219 Tags
Green Green List (high evidence)	GNAI2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, GNAI2-related Tags
Green Green List (high evidence)	GNB2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM# 619503 Tags
Green Green List (high evidence)	GNPAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes glyceronephosphate O-acyltransferase deficiency MONDO:0100273 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes mucopolysaccharidosis type 3D MONDO:0009658 Tags
Green Green List (high evidence)	GON4L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Li-Takada-Miyake syndrome, MIM# 621212 Tags
Green Green List (high evidence)	GPHN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Molybdenum cofactor deficiency C, MIM#615501 Tags SV/CNV
Green Green List (high evidence)	GRIA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 Tags
Green Green List (high evidence)	GRM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes autosomal recessive spinocerebellar ataxia 13 MONDO:0013905 Tags
Green Green List (high evidence)	GTF2H5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Trichothiodystrophy 3, photosensitive MIM#616395 Tags
Green Green List (high evidence)	GTPBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888 Tags
Green Green List (high evidence)	H3F3B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Victorian Clinical Genetics Services Phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721 Tags
Green Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173 Tags treatable
Green Green List (high evidence)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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)	HESX1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes septooptic dysplasia MONDO:0008428, Pituitary hormone deficiency, combined, 5 MONDO:0013099 Tags
Green Green List (high evidence)	HID1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Leukodystrophy, hypomyelinating, 13, MIM# 616881 Tags
Green Green List (high evidence)	HMGB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Mental retardation, autosomal recessive 51, MIM#616739 Tags
Green Green List (high evidence)	HNRNPH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green Green List (high evidence)	HNRNPR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Developmental and epileptic encephalopathy 54 MIM# 617391 Tags
Green Green List (high evidence)	HPD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes tyrosinemia type III MONDO:0010162 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 Phenotypes Lesch-Nyhan syndrome MONDO:0010298 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 Phenotypes 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 Phenotypes 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 Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3-methylglutaconic aciduria type 8 MONDO:0044723 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 Phenotypes 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 Phenotypes 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 Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IFT172	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Bardet-Biedl syndrome MONDO:0015229 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 Tags
Green Green List (high evidence)	INPP4A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech, MIM# 621354 Tags
Green Green List (high evidence)	INPP5K	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607 Tags
Green Green List (high evidence)	INTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Neurodevelopmental disorder, MONDO:0700092, INTS6-related Tags
Green Green List (high evidence)	ITFG2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental abnormality Intellectual disability Developmental regression Ataxia Tags
Green Green List (high evidence)	JARID2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Developmental delay with variable intellectual disability and dysmorphic facies (DIDDF), MIM#620098 Tags SV/CNV
Green Green List (high evidence)	JMJD1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Intellectual disability (MONDO#0001071), JMJD1C-related Tags
Green Green List (high evidence)	KARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Combined mitochondrial oxidative phosphorylation deficiency epilepsy intellectual disability microcephaly Tags
Green Green List (high evidence)	KAT6A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes KAT6B-related multiple congenital anomalies syndrome MONDO:0036042 Tags
Green Green List (high evidence)	KBTBD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, KBTBD2-related 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 Phenotypes 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 Phenotypes 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 Phenotypes Spinocerebellar ataxia 19, MIM#607346 Tags
Green Green List (high evidence)	KCNH5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes 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 Phenotypes SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy MIM#614959 childhood-onset epilepsy syndrome MONDO:0020072 Tags
Green Green List (high evidence)	KDM2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes 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 Phenotypes neurodevelopmental disorder MONDO#0700092, KDM2B-related Tags
Green Green List (high evidence)	KDM5B	2 reviews 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 Phenotypes 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 Phenotypes 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 Phenotypes Kabuki syndrome 2 MONDO:0010465 Tags
Green Green List (high evidence)	KIF26A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Tags
Green Green List (high evidence)	KMT2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Kleefstra syndrome 2, MIM#617768 Neurodevelopmental disorder, MONDO:0700092, KMT2C-related Tags
Green Green List (high evidence)	KMT2E	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes O'Donnell-Luria-Rodan syndrome, MIM# 618512 Intellectual disability Autism Seizures Tags
Green Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 4, primary, autosomal recessive, MIM# 604321 MONDO:0011437 Tags
Green Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes L1 syndrome MONDO:0017140 Tags
Green Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 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 Phenotypes 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 Phenotypes 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 Phenotypes 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)	LARP7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Alazami syndrome, MIM# 615071 Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Tags
Green Green List (high evidence)	LGI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related Tags
Green Green List (high evidence)	LIG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes LIG4 syndrome, MIM# 606593 Tags
Green Green List (high evidence)	LMBRD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes 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)	LONP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes CODAS syndrome, MIM#600373 mitochondrial disease (MONDO:0044970), LONP1-related Tags
Green Green List (high evidence)	LRPPRC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Intellectual developmental disorder, autosomal dominant 77, MIM# 621415 Tags
Green Green List (high evidence)	MAB21L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 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 Phenotypes RASopathy, MONDO:0021060, MAP4K4-related Tags
Green Green List (high evidence)	MARK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 76, MIM# 621285 Tags
Green Green List (high evidence)	MAST4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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)	MBD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 1, MIM# 156200 MONDO:0007974 Tags SV/CNV
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 Phenotypes IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213 Tags
Green Green List (high evidence)	MCM6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, MCM6-related Tags
Green Green List (high evidence)	MDH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 51 MIM#617339 Tags
Green Green List (high evidence)	MED11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, MIM# 620327 Tags
Green Green List (high evidence)	MED12L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder, MONDO:0700092, MED12L-related Intellectual disability Seizures Autism Tags
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086 Tags
Green Green List (high evidence)	MKKS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes McKusick-Kaufman syndrome, MIM# 236700 Bardet-Biedl syndrome 6, MIM# 605231 Retinitis pigmentosa Tags
Green Green List (high evidence)	MLC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004) Tags
Green Green List (high evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Molybdenum cofactor deficiency B MIM#252160 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	MRPS22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Combined oxidative phosphorylation deficiency 5 MIM#611719 Tags
Green Green List (high evidence)	MSL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Basilicata-Akhtar syndrome, OMIM # 301032 Tags
Green Green List (high evidence)	MT-CO2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MTFMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270 Tags
Green Green List (high evidence)	MTSS1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 Tags
Green Green List (high evidence)	MYH10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes 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 Phenotypes Griscelli syndrome, type 1 MIM#214450 Tags
Green Green List (high evidence)	NAA20	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393 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 Phenotypes 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 Phenotypes 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 Phenotypes Developmental and epileptic encephalopathy 107 MIM#620033 Tags
Green Green List (high evidence)	NAV3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM# 619157 Intellectual disability Seizures Tags
Green Green List (high evidence)	NDC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Norrie disease MONDO:0010691 Tags
Green Green List (high evidence)	NDUFA4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 Leigh syndrome, MIM#252010 Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NEUROG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 Tags
Green Green List (high evidence)	NF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurofibromatosis, type 1 (MIM#162200) Tags
Green Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Sotos syndrome 2 (MIM#614753) Marshall-Smith syndrome, MIM# 602535 Tags
Green Green List (high evidence)	NGLY1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of deglycosylation (OMIM 615273) Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 1, MIM # 122470 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 Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags
Green Green List (high evidence)	NPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Niemann-Pick disease, type C1 and type D, MIM# 257220 MONDO:0009757 Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900 Tags
Green Green List (high evidence)	NRXN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Pitt-Hopkins-like syndrome 2 - MIM#614325 Tags
Green Green List (high evidence)	NTRK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Insensitivity to pain, congenital, with anhidrosis - MIM#256800 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 Phenotypes ciliopathy MONDO:0005308 Tags
Green Green List (high evidence)	OGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Yoon-Bellen neurodevelopmental syndrome, MIM# 619701 Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment 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 Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486 Tags
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 Phenotypes 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 Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 Tags
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Phenylketonuria, MIM#261600 Tags treatable
Green Green List (high evidence)	PAX6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia/coloboma 12, OMIM #120200 Tags
Green Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Propionicacidemia MIM#606054 Tags treatable
Green Green List (high evidence)	PCDH19	1 review 1 green	Other	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 9 MIM#300088 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 Phenotypes Pontocerebellar hypoplasia, type 3, MIM#608027 Tags
Green Green List (high evidence)	PDGFRB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Kosaki overgrowth syndrome MIM#616592 Tags
Green Green List (high evidence)	PDSS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Coenzyme Q10 deficiency, primary, 2 MIM#614651 Tags
Green Green List (high evidence)	PEX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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)	PEX11B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859 Peroxisome biogenesis disorder 3B MIM#266510 Tags
Green Green List (high evidence)	PEX26	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882 Peroxisome biogenesis disorder 10B , MIM# 617370 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 Phenotypes 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 Phenotypes Peroxisome biogenesis disorder 9B MIM#614879 Rhizomelic chondrodysplasia punctata, type 1 MIM#215100 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 Phenotypes 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 Phenotypes Neurodevelopmental disorder 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 Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Tags
Green Green List (high evidence)	PI4K2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Neurodevelopmental syndrome with hypomyelinating leukodystrophy Tags
Green Green List (high evidence)	PIP5K1C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Neurodevelopmental disorder (MONDO:0700092), PIP5K1C-related Tags
Green Green List (high evidence)	PLA2G16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lipodystrophy, familial partial, type 9, MIM# 620683 Tags new gene name
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Infantile neuroaxonal dystrophy 1 MIM#256600 Neurodegeneration with brain iron accumulation 2B MIM#610217 Tags
Green Green List (high evidence)	PLK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, PLK1-related, MONDO:0700092 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 Phenotypes Pelizeaus-Merzbacher spectrum disorder MONDO:0010714 Tags
Green Green List (high evidence)	PLXNB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Congenital disorder of glycosylation, type Ia MIM#212065 Tags
Green Green List (high evidence)	PNPLA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155 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 Phenotypes 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)	POMGNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes myopathy caused by variation in POMGNT2 MONDO:0700069 Tags
Green Green List (high evidence)	POMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes focal dermal hypoplasia MONDO:0010592 Tags
Green Green List (high evidence)	PPFIA3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Paul-Chao neurodevelopmental syndrome, MIM# 621122 Tags
Green Green List (high evidence)	PPIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 14, MIM# 619301 microcephaly seizures Tags
Green Green List (high evidence)	PPP1R3F	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related Tags
Green Green List (high evidence)	PPT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ceroid lipofuscinosis, neuronal, 1 MIM#256730 Tags
Green Green List (high evidence)	PRMT9	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PRMT9-related Tags
Green Green List (high evidence)	PSMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related Tags
Green Green List (high evidence)	PTCD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes Holoprosencephaly 7, MIM# 610828 Tags
Green Green List (high evidence)	PTDSS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes Pancreatic and cerebellar agenesis, MIM# 609069 Tags
Green Green List (high evidence)	PTPN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related Tags
Green Green List (high evidence)	PTPN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, PTPN4-related Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hyperphenylalaninaemia, BH4-deficient, A, MIM# 261640 Tags treatable
Green Green List (high evidence)	PUM1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cutis laxa, autosomal recessive, type IIB, MIM# 612940 Cutis laxa, autosomal recessive, type IIIB, MIM# 614438 Tags
Green Green List (high evidence)	RAB11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Carpenter syndrome (MIM#201000) Tags
Green Green List (high evidence)	RAB3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092 Tags
Green Green List (high evidence)	RALGAPA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797 Tags
Green Green List (high evidence)	RARB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia, syndromic 12, MIM# 615524 Tags
Green Green List (high evidence)	RBBP8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Jawad syndrome, MIM#251255 Seckel syndrome 2, MIM#606744 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 Phenotypes Lissencephaly 2 (Norman-Roberts type), MIM# 257320 Tags
Green Green List (high evidence)	RFC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, RFC4-related Tags
Green Green List (high evidence)	RFX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes RFX3-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 Phenotypes Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330 Tags
Green Green List (high evidence)	RHOBTB2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 64, MIM#618004 Tags
Green Green List (high evidence)	RMND1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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 Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASET2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Tags
Green Green List (high evidence)	RNU5B-1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and joint laxity, MIM# 621302 Tags
Green Green List (high evidence)	ROR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Robinow syndrome, autosomal recessive, MIM#268310 Tags
Green Green List (high evidence)	RPGRIP1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 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 Phenotypes Coffin-Lowry syndrome MIM# 303600 Tags
Green Green List (high evidence)	RPS6KC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related Tags
Green Green List (high evidence)	RRM2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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)	RTTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Neurodevelopmental disorder MONDO:0700092, RUNX1T1-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 Phenotypes 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 Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SASS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Lathosterolosis, MIM#607330 Tags
Green Green List (high evidence)	SCN2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Green Green List (high evidence)	SCN8A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377 Tags
Green Green List (high evidence)	SDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Green Green List (high evidence)	SECISBP2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thyroid hormone metabolism, abnormal, 1, MIM# 609698 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739 Tags
Green Green List (high evidence)	SETBP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Schinzel-Giedion syndrome MONDO:0010010 complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SGSM3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 84, MIM# 620401 Tags founder
Green Green List (high evidence)	SHANK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Autism, susceptibility to, 17, MIM#613436 complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	SIN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Witteveen-Kolk syndrome, OMIM # 613406 Tags
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212 Neurodevelopmental disorder, MONDO:0700092, SKI-related Tags
Green Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000 Tags
Green Green List (high evidence)	SLC13A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 MONDO:0014392 Tags
Green Green List (high evidence)	SLC17A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Sialic acid storage disorder, infantile, MIM# 269920 Tags
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags
Green Green List (high evidence)	SLC25A12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 39, MIM# 612949 Tags
Green Green List (high evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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)	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 Phenotypes 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)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC6A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hartnup disorder, MIM# 234500 Tags
Green Green List (high evidence)	SLF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Atelis syndrome 1, MIM# 620184 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 Phenotypes 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)	SNF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 115, MIM#620783 Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Tags
Green Green List (high evidence)	SNW1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354) Tags
Green Green List (high evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Noonan syndrome 4, MIM# 610733 Tags
Green Green List (high evidence)	SOX10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 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 Phenotypes Teebi hypertelorism syndrome 1, MIM# 145420 Tags
Green Green List (high evidence)	SPOP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags
Green Green List (high evidence)	SPTBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475 Tags
Green Green List (high evidence)	SRCAP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Floating-Harbor syndrome MIM#136140 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595 Tags
Green Green List (high evidence)	SRRM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 Tags
Green Green List (high evidence)	SRSF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 620489 Tags
Green Green List (high evidence)	STAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 47, MIM# 617635 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Matthew-Wood syndrome MONDO:0011010 Tags
Green Green List (high evidence)	STX1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172 Tags
Green Green List (high evidence)	SUPT16H	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, MIM# 619480 Intellectual disability Abnormality of the corpus callosum Tags
Green Green List (high evidence)	SYT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Baker-Gordon syndrome, MIM# 618218 MONDO:0033864 Tags
Green Green List (high evidence)	TAF1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Intellectual development disorder, autosomal recessive 40, MIM# 615599 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 Phenotypes Barth syndrome MONDO:0010543 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes 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)	TBL1XR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, autosomal dominant 41, MIM# 616944 Pierpont syndrome, MIM# 602342 Tags
Green Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Pitt-Hopkins syndrome MONDO:0012589 Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Transcobalamin II deficiency, 275350 Tags
Green Green List (high evidence)	TCTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 13, MIM# 614173 MONDO:0013608 Tags
Green Green List (high evidence)	TEFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 58, MIM# 620451 Tags
Green Green List (high evidence)	TET3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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)	THOC2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Mental retardation, X-linked 12/35 MIM#300957 Tags
Green Green List (high evidence)	TIAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with language delay and seizures, MIM# 619908 Tags
Green Green List (high evidence)	TMCO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM# 213980 cerebrofaciothoracic dysplasia MONDO:0008952 Tags
Green Green List (high evidence)	TMEM184B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Joubert syndrome 2 MONDO:0011963 Tags
Green Green List (high evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Developmental and epileptic encephalopathy 118, MIM# 621250 Tags
Green Green List (high evidence)	TMEM70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052 Tags
Green Green List (high evidence)	TNR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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)	TOGARAM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Intellectual disability (MONDO:0001071), TOP2B-related B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296 Tags
Green Green List (high evidence)	TRMT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 68 MIM#618302 Tags
Green Green List (high evidence)	TRPM7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related Tags
Green Green List (high evidence)	TTC37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes trichohepatoenteric syndrome 1 MONDO:0024541 Tags
Green Green List (high evidence)	TTI1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes complex cortical dysplasia with other brain malformations 4 MONDO:0014171 Tags
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Saethre-Chotzen syndrome MONDO:0007042 Tags
Green Green List (high evidence)	UBA5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 44 (MIM#617132) 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 Phenotypes Angelman syndrome MONDO:0007113 Tags
Green Green List (high evidence)	UBE4A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Johanson-Blizzard syndrome (MIM#243800) Tags
Green Green List (high evidence)	UBTF	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Neurodevelopmental disorder with spasticity and poor growth OMIM #618076 Tags deep intronic
Green Green List (high evidence)	UFSP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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)	UNC13A	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital myasthenia dyskinesia autism developmental delay neurodevelopmental disorder MONDO#0700092, UNC13A-related Tags
Green Green List (high evidence)	UNC79	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO:0700092), UNC79-related Tags
Green Green List (high evidence)	UPB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Beta-ureidopropionase deficiency, OMIM #613161 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 Phenotypes Intellectual disability, X-linked 105, MIM#300984 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 Phenotypes Intellectual developmental disorder 99 MIM#300919 syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0024542 Tags
Green Green List (high evidence)	VPS50	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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)	VPS53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes pontocerebellar hypoplasia type 1A MONDO:0011866 Tags
Green Green List (high evidence)	WAC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Desanto-Shinawi syndrome 616708 Tags
Green Green List (high evidence)	WARS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes 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 Phenotypes Neurodevelopmental disorder, MONDO:0700092, WDR11-related 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 Phenotypes Ciliopathy, MONDO:0005308, WDR44-related Tags
Green Green List (high evidence)	WDR62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317 MONDO:0011435 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 Phenotypes Prieto syndrome, MIM# 309610 Tags
Green Green List (high evidence)	XPO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, XPO1-related, MONDO:0700092 Tags
Green Green List (high evidence)	YIF1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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)	YY1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Gabriele-de Vries syndrome, OMIM #617557 Tags
Green Green List (high evidence)	ZBTB7A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MIM#619769) Tags
Green Green List (high evidence)	ZFHX3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Research Phenotypes Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related Tags
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 Phenotypes 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 Phenotypes 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 Phenotypes Structural brain anomalies with impaired intellectual development and craniosynostosis OMIM #618736  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 Phenotypes Intellectual developmental disorder, X-linked 112, MIM# 301111 Tags
Green Green List (high evidence)	ZNF292	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 64 MIM#619188 Tags
Green Green List (high evidence)	ZNF526	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags

Intellectual disability syndromic and non-syndromic (Version 2.0)

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