Fetal anomalies (Version 2.0)

Description

The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.

Common example clinical indications include:
• Multiple structural anomalies
• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)
• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)
• Major CNS abnormalities (excluding neural tube defects)
• Multiple contractures (excluding isolated bilateral talipes)
• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)
• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).

Chromosomal microarray is strongly recommended prior to genomic testing.

More targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.

This panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.

Panel Activity

38 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Lauren Akesson (Royal Melbourne Hospital)
Natalie Tan (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Tegan French (Victorian Clinical Genetics Services)
Lauren Rogers (Victorian Clinical Genetics Services)
George McGillivray (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Chloe Stutterd (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Anna Le Fevre (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Arina Puzriakova (Genomics England)
Rylee Peters (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Lilian Downie (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Crystle Lee (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Karina Sandoval (Victorian Clinical Genetics Services)

515 Entities

reviewed, green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 515 Entitiess
Green Green List (high evidence)	AARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new gene name
Green Green List (high evidence)	ABCA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500 Tags
Green Green List (high evidence)	ABCC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Genomics England PanelApp Phenotypes Arterial calcification, generalized, of infancy, 2, MIM# 614473 Tags SV/CNV
Green Green List (high evidence)	ABCC9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypertrichotic osteochondrodysplasia, MIM# 239850 Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 Tags
Green Green List (high evidence)	ACOX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Tags
Green Green List (high evidence)	ACTA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Nemaline myopathy 3, MIM#161800 Myopathy, actin, congenital, with cores, MIM#161800 Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Baraitser-Winter syndrome 1, MIM#243310 Tags
Green Green List (high evidence)	ACTG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 Tags
Green Green List (high evidence)	ACVR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Congenital heart disease Tags clinical trial
Green Green List (high evidence)	ADAMTS10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Green Green List (high evidence)	ADAMTS15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, distal, type 12, MIM# 620545 Tags
Green Green List (high evidence)	ADAMTS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hennekam lymphangiectasia-lymphoedema syndrome 3, OMIM:618154 Hennekam lymphangiectasia-lymphoedema syndrome 3, MONDO:0032564 Tags
Green Green List (high evidence)	ADCY6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Lethal congenital contracture syndrome 8, MIM#616287 MONDO:0014570 Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AGPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 Tags
Green Green List (high evidence)	AHI1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3, MIM# 608629 Tags
Green Green List (high evidence)	AKT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cowden syndrome 6, MIM#615109 Proteus syndrome, somatic, MIM# 176920 Tags
Green Green List (high evidence)	AL117258.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy congenital heart defects Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cutis laxa, autosomal dominant 3, MIM# 616603 Cutis laxa, autosomal recessive, type IIIA, MIM# 219150 Tags
Green Green List (high evidence)	ALDH1A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, isolated 8, MIM# 615113 Tags
Green Green List (high evidence)	ALG9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Tags
Green Green List (high evidence)	AMBRA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Neural tube defects Tags
Green Green List (high evidence)	AMOTL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniofaciocardiohepatic syndrome, MIM# 621192 Tags
Green Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Glycine encephalopathy, MIM# 605899 Tags
Green Green List (high evidence)	ANAPC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Rothmund-Thomson syndrome, type 1, MIM# 618625 Tags
Green Green List (high evidence)	ANKH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Craniometaphyseal dysplasia, MIM#123000 Tags
Green Green List (high evidence)	ANKRD17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Chopra-Amiel-Gordon syndrome - MIM#619504 multiple congenital malformations Tags
Green Green List (high evidence)	ANKS6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 16, MIM# 615382 MONDO:0014158 Tags
Green Green List (high evidence)	ANOS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), MIM# 308700 Tags
Green Green List (high evidence)	AP1S2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, OMIM:304340 Tags
Green Green List (high evidence)	AP4B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Green Green List (high evidence)	AP4E1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 MONDO:0013401 Tags
Green Green List (high evidence)	AP4S1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Spastic paraplegia 52, autosomal recessive, MIM# 614067 Tags
Green Green List (high evidence)	ARCN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 Microcephalic dwarfism Tags
Green Green List (high evidence)	ARHGAP29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Clefting disorder, MONDO:0000358, ARHGAP29-related Tags
Green Green List (high evidence)	ARHGAP31	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Adams-Oliver syndrome 1, MIM#100300 Tags
Green Green List (high evidence)	ARID1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 2 (MIM#614607) Tags
Green Green List (high evidence)	ARID1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 1, MIM 135900 Tags
Green Green List (high evidence)	ARID2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Coffin-Siris syndrome 6, MIM# 617808 Tags
Green Green List (high evidence)	ARL13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 8, 612291 Tags
Green Green List (high evidence)	ARL3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 35- MIM#618161 Tags
Green Green List (high evidence)	ARMC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 23, MIM# 615451 Tags new gene name
Green Green List (high evidence)	ARX	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Hydranencephaly with abnormal genitalia, MIM# 300215 Lissencephaly, X-linked 2, MIM# 300215 Tags
Green Green List (high evidence)	ASAH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Farber lipogranulomatosis, MIM# 228000 Tags
Green Green List (high evidence)	ATAD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Hyperekplexia 4 - #618011 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)	AUTS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Tags SV/CNV
Green Green List (high evidence)	B3GALT6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 Tags
Green Green List (high evidence)	B4GAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 Tags
Green Green List (high evidence)	B9D2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, MIM# 615987 Tags
Green Green List (high evidence)	BBS12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989 Tags
Green Green List (high evidence)	BBS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 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 Genomics England PanelApp Phenotypes Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 Tags
Green Green List (high evidence)	BCL11A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dias-Logan syndrome, MIM# 617101 Tags
Green Green List (high evidence)	BCOR	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia, syndromic 2, MIM# 300166 Oculofaciocardiodental syndrome Lenz microphthalmia Tags
Green Green List (high evidence)	BCS1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Green Green List (high evidence)	BICD2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 615290 Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant 618291 Tags
Green Green List (high evidence)	BIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Centronuclear myopathy 2, MIM# 255200 Tags
Green Green List (high evidence)	BLM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Bloom Syndrome MIM# 210900 Tags
Green Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type XIII , MIM#614856 Tags
Green Green List (high evidence)	BMP2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877 Tags
Green Green List (high evidence)	BMP4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Orofacial cleft 11 600625 Microphthalmia, syndromic 6, MIM# 607932 Tags SV/CNV
Green Green List (high evidence)	BMPER	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Diaphanospondylodysostosis, MIM#608022 Tags
Green Green List (high evidence)	BNC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lower urinary tract obstruction, congenital, MIM #618612 Tags
Green Green List (high evidence)	BRAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498 Tags
Green Green List (high evidence)	BRCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fanconi anaemia, complementation group S, MIM# 617883 Tags
Green Green List (high evidence)	BRCA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Fanconi anaemia, complementation group D1, MIM# 605724 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)	BRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group J, MIM# 609054 Tags
Green Green List (high evidence)	BRPF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333 MONDO:0015022 Tags
Green Green List (high evidence)	BUB1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mosaic variegated aneuploidy syndrome 1, MIM# 257300 Tags
Green Green List (high evidence)	C12orf57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Temtamy syndrome, MIM#218340 Tags
Green Green List (high evidence)	C1orf127	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, visceral, MONDO:0018677, CIROZ-related Tags new gene name
Green Green List (high evidence)	C1QBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 33, MIM# 617713 severe neonatal cardiomyopathy Tags
Green Green List (high evidence)	C21orf59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Primary ciliary dyskinesia 26, MONDO:0014211 Ciliary dyskinesia, primary, 26, OMIM:615500 Tags founder new gene name
Green Green List (high evidence)	CACNA1C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Timothy syndrome, MIM# 601005 Long QT syndrome 8, MIM# 618447 Tags
Green Green List (high evidence)	CACNA1E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Epileptic encephalopathy, early infantile, 69, MIM#618285 Tags
Green Green List (high evidence)	CANT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Desbuquois dysplasia 1, MIM# 251450 Tags
Green Green List (high evidence)	CASK	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 Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes FG syndrome 4, MIM# 300422 Mental retardation, with or without nystagmus, MIM# 300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749 Tags
Green Green List (high evidence)	CASP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653 Tags
Green Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 Tags
Green Green List (high evidence)	CBY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome, MONDO:0018772, CBY1-related Tags
Green Green List (high evidence)	CCBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 Tags
Green Green List (high evidence)	CCDC103	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 17, MIM# 614679 Tags
Green Green List (high evidence)	CCDC114	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 20, MIM# 615067 Tags new gene name
Green Green List (high evidence)	CCDC151	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Primary ciliary dyskinesia 30, MONDO:0014465 Ciliary dyskinesia, primary, 30, OMIM:616037 Tags new gene name
Green Green List (high evidence)	CCDC22	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Ritscher-Schinzel syndrome 2, MIM# 300963 Tags
Green Green List (high evidence)	CCDC32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123 Tags
Green Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 14, MIM# 613807 Tags
Green Green List (high evidence)	CCDC40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808 Tags
Green Green List (high evidence)	CDC45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 7, MIM 617063 Tags
Green Green List (high evidence)	CDK13	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 Tags
Green Green List (high evidence)	CDKL5	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 2, MIM# 300672 Tags
Green Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Beckwith-Wiedemann syndrome, MIM# 130650 IMAGe syndrome, MIM# 614732 Silver-Russell syndrome Tags
Green Green List (high evidence)	CDON	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Holoprosencephaly 11, MIM# 614226 MONDO:0013642 Tags
Green Green List (high evidence)	CDT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 4, MIM#613804 Tags
Green Green List (high evidence)	CELSR1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lymphatic malformation 9, MIM# 619319 Tags
Green Green List (high evidence)	CELSR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Tags
Green Green List (high evidence)	CENPF	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp Literature Phenotypes Stromme syndrome, MIM#243605 Tags
Green Green List (high evidence)	CENPJ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephaly 6, primary, autosomal recessive, MIM# 608393 Seckel syndrome 4, MIM# 613676 Tags
Green Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Tags
Green Green List (high evidence)	CEP120	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Joubert syndrome 31, MIM# 617761 Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Green Green List (high evidence)	CEP135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 8, primary, autosomal recessive, OMIM:614673 Microcephaly 8, primary, autosomal recessive, MONDO:0013849 Microcephalic primordial dwarfism Tags
Green Green List (high evidence)	CEP152	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 9, primary, autosomal recessive, MIM# 614852 MONDO:0013923 Seckel syndrome 5, MIM# 613823 MONDO:0013443 Tags
Green Green List (high evidence)	CEP164	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 14, MIM# 615991 Joubert syndrome 5, MIM# 610188 Meckel syndrome 4, MIM# 611134 Tags
Green Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CEP55	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 lethal CEP55-related syndromes Tags
Green Green List (high evidence)	CEP57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mosaic variegated aneuploidy syndrome 2, #MIM 614114 Tags
Green Green List (high evidence)	CEP76	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Hydrocephalus ID Tags
Green Green List (high evidence)	CFAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779 Tags
Green Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cystic fibrosis, MIM# 219700 Tags
Green Green List (high evidence)	CHAMP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 40 (MIM#616579) microcephaly Tags
Green Green List (high evidence)	CHAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 6, presynaptic 254210 Tags
Green Green List (high evidence)	CHD4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Sifrim-Hitz-Weiss syndrome MONDO:0014946 Sifrim-Hitz-Weiss syndrome OMIM:617159 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, MIM# 214800 Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green Green List (high evidence)	CHRNA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags
Green Green List (high evidence)	CHRNB1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313 Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Tags
Green Green List (high evidence)	CHRND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009668 Tags
Green Green List (high evidence)	CHRNE	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 Myasthenic syndrome, congenital, 4B, fast-channel, 616324 Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Tags
Green Green List (high evidence)	CHRNG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 MONDO:0009926 MONDO:0009668 Tags
Green Green List (high evidence)	CIT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Microcephaly 17, primary, autosomal recessive, OMIM:617090 Microcephaly 17, primary, autosomal recessive, MONDO:0014908 Tags
Green Green List (high evidence)	CLMP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital short bowel syndrome , MIM#615237 Tags
Green Green List (high evidence)	CLP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 10, OMIM:615803 Pontocerebellar hypoplasia type 10, MONDO:0014349 Tags
Green Green List (high evidence)	CLTC	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 56, MIM# 617854 Tags
Green Green List (high evidence)	COL12A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ullrich congenital muscular dystrophy 2, 616470 Bethlem myopathy 2, 616471 Tags
Green Green List (high evidence)	COL13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 19, OMIM:616720 Congenital myasthenic syndrome 19, MONDO:0014745 Tags
Green Green List (high evidence)	COL9A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Stickler syndrome, type V, MIM# 614284 Tags
Green Green List (high evidence)	COLEC10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes 3MC syndrome 3, MONDO:0009554 3MC syndrome 3, OMIM:248340 Tags
Green Green List (high evidence)	CREB3L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type XVI, 616229 Tags
Green Green List (high evidence)	CRIPT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Short stature with microcephaly and distinctive facies (MIM#615789) Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	CTDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168 Tags deep intronic founder
Green Green List (high evidence)	CTNNA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Tags
Green Green List (high evidence)	CTNND1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Blepharocheilodontic syndrome 2, MIM# 617681 Tags
Green Green List (high evidence)	CTSD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pycnodysostosis, MIM# 265800 Tags
Green Green List (high evidence)	CTU2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Tags
Green Green List (high evidence)	CUL4B	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354 Tags
Green Green List (high evidence)	CUL7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-M syndrome 1, MIM# 273750 Yakut short stature syndrome Tags
Green Green List (high evidence)	CWF19L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 17 - MIM#616127 Tags
Green Green List (high evidence)	DAW1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570 Tags
Green Green List (high evidence)	DCDC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 19, MIM# 616217 Tags
Green Green List (high evidence)	DCX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Green Green List (high evidence)	DENND5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy, 49, MONDO:0015002 Developmental and epileptic encephalopathy 49, OMIM:617281 Tags
Green Green List (high evidence)	DICER1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes GLOW syndrome, somatic mosaic - MIM#618272 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - MIM#138800 Pleuropulmonary blastoma - MIM#601200 Tags
Green Green List (high evidence)	DIS3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Perlman syndrome MIM# 267000 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 Genomics England PanelApp Phenotypes Holoprosencephaly 10, MIM# 621143 Tags
Green Green List (high evidence)	DKC1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyskeratosis congenita, X-linked MIM#305000 Hoyeraal-Hreidarsson syndrome (HHS) Tags
Green Green List (high evidence)	DLG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Yuksel-Vogel-Bauer syndrome, MIM#620703 Tags
Green Green List (high evidence)	DMRT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes skeletal dysplasia MONDO:0018230 DMRT2-related Tags
Green Green List (high evidence)	DNAI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444 Tags
Green Green List (high evidence)	DNAJB11	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, 618061 Tags
Green Green List (high evidence)	DNAJC19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-methylglutaconic aciduria, type V 610198 Tags
Green Green List (high evidence)	DNM1L	2 reviews 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)	DPM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ie, 608799 Tags
Green Green List (high evidence)	DPM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type Iu, 615042 Tags
Green Green List (high evidence)	DYM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Smith-McCort dysplasia , MM#607326 Dyggve-Melchior-Clausen disease, MIM#223800 Tags
Green Green List (high evidence)	DYNC1H1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228 Mental retardation, autosomal dominant 13, MIM# 614563 Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600 Tags
Green Green List (high evidence)	DYNC1I1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related Tags SV/CNV
Green Green List (high evidence)	DYNC1I2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 Tags
Green Green List (high evidence)	DYNC2H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127 Tags
Green Green List (high evidence)	DYNC2LI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 15 with polydactyly, MIM#617088 Tags
Green Green List (high evidence)	DYRK1A	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Mental retardation, autosomal dominant 7, MIM# 614104 Tags SV/CNV
Green Green List (high evidence)	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Hypotonia, ataxia, and delayed development syndrome OMIM:617330 Tags
Green Green List (high evidence)	EBP	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Chondrodysplasia punctata, X-linked dominant MIM#302960 Conradi-Hunermann syndrome MEND syndrome, MIM#300960 Tags
Green Green List (high evidence)	ECEL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 5D, MIM# 615065 Tags
Green Green List (high evidence)	EDNRB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Waardenburg syndrome, type 4A, MIM#277580 ABCD syndrome, MIM# 600501 Tags
Green Green List (high evidence)	EFEMP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437 Tags
Green Green List (high evidence)	ELOVL4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457 Tags
Green Green List (high evidence)	ERBB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lethal congenital contractural syndrome 2, MIM# 607598 Hirschsprung disease (HSCR, aganglionic megacolon) MIM#142623 Tags
Green Green List (high evidence)	ERGIC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita 2, neurogenic type OMIM # 208100 Tags
Green Green List (high evidence)	ERI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663 Tags
Green Green List (high evidence)	EXOC3L2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Brain malformation renal syndrome, MIM# 620943 Tags
Green Green List (high evidence)	EXOSC5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects - MIM#619576 Tags
Green Green List (high evidence)	EXOSC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 1C - MIM#616081 Tags
Green Green List (high evidence)	FAAP100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Fanconi anaemia, complementation group X, MIM# 621258 Tags
Green Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 Tags
Green Green List (high evidence)	FAM149B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 36 - MIM#618763 Tags
Green Green List (high evidence)	FANCB	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 MONDO:0010351 Tags
Green Green List (high evidence)	FANCC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213 Tags
Green Green List (high evidence)	FANCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953 Tags
Green Green List (high evidence)	FANCG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group G, MIM# 614082 MONDO:0013565 Tags
Green Green List (high evidence)	FAR1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Cataracts, spastic paraparesis, and speech delay, MIM#619338 Tags
Green Green List (high evidence)	FAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies nephropathy ocular anomalies hand and foot anomalies Tags
Green Green List (high evidence)	FBN2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Contractural arachnodactyly, congenital OMIM:121050 congenital contractural arachnodactyly MONDO:0007363 Tags
Green Green List (high evidence)	FBXW11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental, eye, jaw, and digital syndrome (NDEJD), MIM#618914 Tags
Green Green List (high evidence)	FGF10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Lacrimoauriculodentodigital syndrome (149730) Tags
Green Green List (high evidence)	FGF9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Multiple synostoses syndrome 3, OMIM # 612961 Craniosynostosis Tags
Green Green List (high evidence)	FGFR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Pfeiffer syndrome, MIM# 101600 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes LADD syndrome, MIM#149730 Achondroplasia, MIM# 100800 Thanatophoric dysplasia, type I, MIM# 187600 Thanatophoric dysplasia, type II, MIM# 187601 Tags
Green Green List (high evidence)	FIG4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Yunis-Varon syndrome, OMIM:216340 Yunis-Varon syndrome, MONDO:0008995 ?Polymicrogyria, bilateral temporooccipital, OMIM:612691 Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986 Tags
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Bruck syndrome 1, MONDO:0009806 Osteogenesis imperfecta, type XI, OMIM:610968 Osteogenesis imperfecta type 11, MONDO:0012592 Bruck syndrome 1, OMIM:259450 Tags
Green Green List (high evidence)	FKRP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 Tags
Green Green List (high evidence)	FLT4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital heart defects, multiple types, 7, MIM# 618780 Lymphatic malformation 1, MIM# 153100 Tags
Green Green List (high evidence)	FOXC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Lymphoedema-distichiasis syndrome, MIM# 153400 Tags
Green Green List (high evidence)	FOXP3	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 Tags
Green Green List (high evidence)	FREM1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Manitoba oculotrichoanal syndrome 248450 Bifid nose with or without anorectal and renal anomalies, MIM# 608980 Trigonocephaly 2, MIM# 614485 Tags
Green Green List (high evidence)	FRMPD4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual Disability, X-linked 104, MIM#300983 Tags
Green Green List (high evidence)	FUT8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Congenital disorder of glycosylation with defective fucosylation 1, OMIM:618005 Congenital disorder of glycosylation with defective fucosylation 1, MONDO:0020775 Tags
Green Green List (high evidence)	FUZ	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neural tube defects 182940 Ciliopathy_MONDO_0005308, FUZ-related skeletal ciliopathy Tags
Green Green List (high evidence)	FZD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Autosomal dominant omodysplasia, MONDO:0008123 Omodysplasia 2, OMIM:164745 Tags
Green Green List (high evidence)	G6PC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dursun syndrome 612541 Neutropenia, severe congenital 4, autosomal recessive 612541 Tags
Green Green List (high evidence)	GDF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530 Tags
Green Green List (high evidence)	GDF11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122 Tags
Green Green List (high evidence)	GDF5	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Grebe type chondrodysplasia (MIM#200700) Du Pan syndrome (MIM#228900) Tags
Green Green List (high evidence)	GFRA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal hypodysplasia/aplasia 4, MIM# 619887 Tags
Green Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Growth hormone insensitivity, partial, MIM#604271 Laron dwarfism, MIM#262500 Tags
Green Green List (high evidence)	GLDN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 11, MIM# 617194 MONDO:0014965 Tags
Green Green List (high evidence)	GLE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lethal congenital contracture syndrome 1, MIM# 253310 Tags
Green Green List (high evidence)	GLI1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Polydactyly, preaxial I, OMIM:174400 Polydactyly, postaxial, type A8, MONDO:0029130 Polydactyly, postaxial, type A8, OMIM:618123 Preaxial polydactyly of fingers, MONDO:0017425 Tags
Green Green List (high evidence)	GLIS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 Tags
Green Green List (high evidence)	GMNN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Meier-Gorlin syndrome 6, OMIM:616835 Meier-Gorlin syndrome 6, MONDO:0014794 Tags
Green Green List (high evidence)	GMPPB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350 Tags
Green Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes GNPTAB-mucolipidosis MONDO:0100122 Mucolipidosis II alpha/beta, MIM# 252500 Mucolipidosis III alpha/beta, MIM# 252600 Tags
Green Green List (high evidence)	GNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Mucopolysaccharidosis type IIID, MIM# 252940 Sanfilippo syndrome type D, MONDO:0009658 Tags
Green Green List (high evidence)	GPX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220 Tags
Green Green List (high evidence)	GREB1L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal hypodysplasia/aplasia 3, MIM#617805 renal agenesis Tags
Green Green List (high evidence)	GRHL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Van der Woude syndrome 2 MIM#606713 Tags
Green Green List (high evidence)	GRIN2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes GRIN2B-related complex neurodevelopmental disorder MONDO:0700350 Developmental and epileptic encephalopathy 27 MIM#616139 Intellectual developmental disorder, autosomal dominant 6, with or without seizures MIM#613970 Tags
Green Green List (high evidence)	GRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Fraser syndrome 3 MIM#617667 Tags
Green Green List (high evidence)	GTPBP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198 Tags
Green Green List (high evidence)	HAAO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 617660 Tags
Green Green List (high evidence)	HIBCH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620 Tags
Green Green List (high evidence)	HIST1H4C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1 MIM#619758 Tags new gene name
Green Green List (high evidence)	HMGA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Silver-Russell syndrome 5, OMIM:618908 Silver-Russell syndrome 5, MONDO:0020795 Tags SV/CNV
Green Green List (high evidence)	HMGB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, HMGB1-related microcephaly intellectual disability brachyphalangy, polydactyly, and tibial aplasia/hypoplasia MIM#163905 Tags
Green Green List (high evidence)	HMX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Oculoauricular syndrome, MIM#612109 Tags
Green Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags SV/CNV
Green Green List (high evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young MIM#616026 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 Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986 Tags
Green Green List (high evidence)	HNRNPK	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Other Phenotypes Au-Kline syndrome, MIM#616580 Tags
Green Green List (high evidence)	HSPG2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139) Schwartz-Jampel syndrome, MONDO:0009717 Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 Schwartz-Jampel syndrome, type 1, OMIM:255800 Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410 Tags
Green Green List (high evidence)	IDUA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis Ih (MIM#607014) Mucopolysaccharidosis Ih/s (MIM#607015) Mucopolysaccharidosis Is (MIM#6070) 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 Genomics England PanelApp Phenotypes Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Tags
Green Green List (high evidence)	IFIH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 7 MIM#615846 Singleton-Merten syndrome 1, MIM# 182250 Tags
Green Green List (high evidence)	IFITM5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type V MIM#610967 Tags 5'UTR
Green Green List (high evidence)	IFT140	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 Tags
Green Green List (high evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Bardet-Biedl syndrome Tags
Green Green List (high evidence)	IFT43	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866 Cranioectodermal dysplasia 3, MIM# 614099 Tags
Green Green List (high evidence)	IFT52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102 Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 Tags
Green Green List (high evidence)	IFT74	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bardet-Biedl syndrome 22 - MIM#617119 Joubert syndrome 40 - MIM#619582 Tags
Green Green List (high evidence)	IFT81	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485 Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895 Tags
Green Green List (high evidence)	IGF2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Growth restriction, severe, with distinctive facies, MIM#616489 Tags
Green Green List (high evidence)	IGHMBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neuronopathy, distal hereditary motor, type VI MIM#604320 SMA with respiratory distress, SMARD1 Tags
Green Green List (high evidence)	IHH	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Acrocapitofemoral dysplasia MIM#607778 Brachydactyly, type A1 MIM#112500 Tags
Green Green List (high evidence)	IKBKG	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes ncontinentia pigmenti, MIM# 308300 Tags
Green Green List (high evidence)	IMPAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Chondrodysplasia with joint dislocations, GPAPP type MIM#614078 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 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)	INVS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Nephronophthisis 2, MIM# 602088 Tags
Green Green List (high evidence)	IQCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Polydactyly, postaxial, type A7 - MIM#617642 Tags
Green Green List (high evidence)	ITGA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green Green List (high evidence)	ITGA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730 Tags
Green Green List (high evidence)	ITGAV	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372 Tags
Green Green List (high evidence)	ITGB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730 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)	KCNH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Zimmermann-Laband syndrome 1, OMIM:135500 Tags
Green Green List (high evidence)	KCNJ8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cantu syndrome Tags
Green Green List (high evidence)	KCNK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA) Tags
Green Green List (high evidence)	KDM2B	1 review 1 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)	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 Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type MIM# 300534 MONDO:0010355 Tags
Green Green List (high evidence)	KIF14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Microcephaly 20, primary, autosomal recessive, OMIM:617914 Meckel syndrome 12, OMIM:616258 Microcephaly 20, primary, autosomal recessive, MONDO:0054761 Tags
Green Green List (high evidence)	KIF26A	1 review 1 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)	KIF5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kyphomelic dysplasia, no OMIM # Tags
Green Green List (high evidence)	KLF1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyserythropoietic anaemia, congenital, type IV MIM#613673 Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Tags
Green Green List (high evidence)	KNL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321 Microcephaly 4, primary, autosomal recessive, MONDO:0011437 Tags
Green Green List (high evidence)	LARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Tags
Green Green List (high evidence)	LMBR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Laurin-Sandrow syndrome, MIM# 135750 Polydactyly, preaxial type II 174500 Triphalangeal thumb, type I, MIM# 174500 Syndactyly, type IV, MIM# 186200 Acheiropody, MIM# 200500 Triphalangeal thumb-polysyndactyly syndrome, MIM# 174500 Hypoplastic or aplastic tibia with polydactyly, MIM# 188740 Tags
Green Green List (high evidence)	LMNA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Restrictive dermopathy, lethal, MIM# 275210 Mandibuloacral dysplasia, MIM# 248370 Tags
Green Green List (high evidence)	LNPK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum MIM#618090 Tags
Green Green List (high evidence)	LRIG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Urofacial syndrome 2 (MIM#615112) Tags
Green Green List (high evidence)	LRP5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Osteoporosis-pseudoglioma syndrome, MIM# 259770 Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 Tags
Green Green List (high evidence)	LRRC56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Ciliary dyskinesia, primary, 39, OMIM:618254 Ciliary dyskinesia, primary, 39, MONDO:0032637 Tags
Green Green List (high evidence)	LRRC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 19, MIM# 614935 Tags
Green Green List (high evidence)	LZTFL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 17, MIM# 615994 Tags
Green Green List (high evidence)	LZTR1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Noonan syndrome 10, MIM#616564 Noonan syndrome 2, MIM#605275 Fetal hydrops Tags
Green Green List (high evidence)	MAB21L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Cerebellar, ocular, craniofacial, and genital syndrome OMIM#618479 Tags
Green Green List (high evidence)	MAB21L2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia/coloboma and skeletal dysplasia syndrome, MIM# 615877 Tags
Green Green List (high evidence)	MACF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Lissencephaly 9 with complex brainstem malformation, MONDO:0032677 Lissencephaly 9 with complex brainstem malformation, OMIM:618325 Tags
Green Green List (high evidence)	MAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Ayme-Gripp syndrome (MIM#601088) Tags
Green Green List (high evidence)	MAGEL2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Schaaf-Yang syndrome, MIM# 615547 Tags
Green Green List (high evidence)	MAMLD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypospadias 2 (MIM#300758) Tags
Green Green List (high evidence)	MAP1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polymicrogyria Periventricular nodular heterotopia 9, MIM# 618918 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Green Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Green Green List (high evidence)	MAP3K1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes 46XY sex reversal 6 (MIM#613762) Tags
Green Green List (high evidence)	MAPRE2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Symmetric circumferential skin creases, congenital, 2, MIM#616734 Tags
Green Green List (high evidence)	MASP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes 3MC syndrome 1, MIM# 257920 MONDO:0009770 Tags
Green Green List (high evidence)	MATN3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728 Tags
Green Green List (high evidence)	MAX	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polydactyly-macrocephaly syndrome, MIM# 620712 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mucolipidosis IV, MIM# 252650 MONDO:0009653 Tags
Green Green List (high evidence)	MCPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 Tags
Green Green List (high evidence)	MDFIC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lymphatic malformation 12, MIM# 620014 Tags
Green Green List (high evidence)	MECOM	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738 Tags
Green Green List (high evidence)	MED12	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lujan-Fryns syndrome, MIM# 309520 Opitz-Kaveggia syndrome, MIM# 305450 Tags
Green Green List (high evidence)	MED13L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789 Tags
Green Green List (high evidence)	MED17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 Tags
Green Green List (high evidence)	MED25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies congenital heart defects hypospadias, thin corpus callosum, cerebral ventricular dilatation Basel-Vanagait-Smirin-Yosef syndrome - #616449 Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Tags
Green Green List (high evidence)	MED27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 Tags
Green Green List (high evidence)	MEF2C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 MONDO:0013266 Tags SV/CNV
Green Green List (high evidence)	MEGF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Carpenter syndrome 2, MIM #614976 Tags
Green Green List (high evidence)	MITF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes COMMAD syndrome, MIM# 617306 Tags
Green Green List (high evidence)	MPZ	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Hypomyelinating neuropathy, congenital, 2, MIM# 618184 Tags
Green Green List (high evidence)	MSTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Myopathy, mitochondrial, and ataxia, OMIM:617675 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714 Tags
Green Green List (high evidence)	MYCN	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Feingold syndrome 1 (MIM#164280) Megalencephaly-polydactyly syndrome, MIM# 620748 Tags
Green Green List (high evidence)	MYH10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465) Tags
Green Green List (high evidence)	MYH2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 Tags
Green Green List (high evidence)	MYH7	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ebstein anomaly Laing distal myopathy, MIM# 160500 Tags
Green Green List (high evidence)	MYL9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365 Tags
Green Green List (high evidence)	MYMK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Carey-Fineman-Ziter syndrome, MONDO:0009700 Carey-Fineman-Ziter syndrome, OMIM:254940 Tags
Green Green List (high evidence)	NECTIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Orofacial cleft 7, OMIM:225060 Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 Zlotogora-Ogur syndrome Tags
Green Green List (high evidence)	NEK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Orofaciodigital syndrome II , MIM# 252100 Tags
Green Green List (high evidence)	NEK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174 Renal-hepatic-pancreatic dysplasia 2, OMIM:615415 Nephronophthisis 9, OMIM:613824 Nephronophthisis 9, MONDO:0013444 Tags
Green Green List (high evidence)	NHS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nance-Horan syndrome, MIM# 302350 Tags
Green Green List (high evidence)	NONO	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked, syndromic 34, MIM# 300967 Ventricular septal defect (VSD) Pulmonary stenosis Ebstein s anomaly Left ventricular non-compaction cardiomyopathy (LVNC) Tags
Green Green List (high evidence)	NOVA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, MIM# 618859 Tags
Green Green List (high evidence)	NR6A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculovertebral syndrome, MIM# 621277 Tags
Green Green List (high evidence)	NSD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Rauch-Steindl syndrome, MIM# 619695 Tags
Green Green List (high evidence)	NUDT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with or without peripheral neuropathy MIM#619844 Tags
Green Green List (high evidence)	NUP188	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Sandestig-Stefanova syndrome, 618804 microcephaly ID cataract structural brain abnormalities Tags
Green Green List (high evidence)	NUP88	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Fetal akinesia deformation sequence 4, MONDO:0100104 Fetal akinesia deformation sequence 4, OMIM:618393 Tags
Green Green List (high evidence)	NXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Robinow syndrome, autosomal recessive 2, OMIM:618529 Robinow syndrome, autosomal recessive 2, MONDO:0032800 Tags
Green Green List (high evidence)	ODC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Bachmann-Bupp syndrome (MIM#619075) Tags
Green Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type VIII 610915 Tags
Green Green List (high evidence)	PAFAH1B1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Lissencephaly 1, MIM# 607432 Subcortical laminar heterotopia, MIM# 607432 MONDO:0011830 Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anaemia, complementation group N, MIM# 610832 Tags
Green Green List (high evidence)	PAN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384 Tags
Green Green List (high evidence)	PBX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549 Tags
Green Green List (high evidence)	PDE12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial disease MONDO:0044970, PDE12-related Tags
Green Green List (high evidence)	PDE3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hypertension and brachydactyly syndrome - #112410 Tags
Green Green List (high evidence)	PHF21A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725 Tags
Green Green List (high evidence)	PHF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder (MONDO#0700092), PHF5A-related Tags
Green Green List (high evidence)	PI4KA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679 Tags
Green Green List (high evidence)	PIBF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Joubert syndrome 33, MONDO:0033311 Joubert syndrome 33, OMIM:617767 Tags
Green Green List (high evidence)	PIK3C2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Oculocerebrodental syndrome, MONDO:0034145 Oculoskeletodental syndrome, OMIM:618440 Tags
Green Green List (high evidence)	PIP5K1C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Lethal congenital contractural syndrome 3 - #611369 Tags
Green Green List (high evidence)	PKP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related dilated cardiomyopathy hypoplastic left heart syndrome hydrops fetalis ventricular septal defect left ventricular non-compaction Tags
Green Green List (high evidence)	PLAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527 Tags
Green Green List (high evidence)	PLAG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Silver-Russell syndrome 4, OMIM:618907 Silver-russell syndrome 4, MONDO:0030118 Tags
Green Green List (high evidence)	PLS3	3 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 Literature Phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 Diaphragmatic hernia 5, X-linked, MIM# 306950 Tags
Green Green List (high evidence)	POLR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Acrofacial dysostosis, Cincinnati type, OMIM:616462 Acrofacial dysostosis Cincinnati type, MONDO:0014651 Tags
Green Green List (high evidence)	POP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Anauxetic dysplasia 2, OMIM:617396 Anauxetic dysplasia 2, MONDO:0054561 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)	PPP1R13L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Tags
Green Green List (high evidence)	PRKAG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Glycogen storage disease of heart, lethal congenital, OMIM:261740 Lethal congenital glycogen storage disease of heart, MONDO:0009867 Tags
Green Green List (high evidence)	PRR12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neuroocular syndrome, MIM#619539 Complex microphthalmia Tags
Green Green List (high evidence)	PTCH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 7, MIM# 610828 Exstrophy-epispadias complex MONDO:0017919, PTCH1-related Tags
Green Green List (high evidence)	PTPN14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Lymphedema-posterior choanal atresia syndrome, MONDO:0013324 Choanal atresia and lymphedema, OMIM:613611 Tags
Green Green List (high evidence)	RAB34	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Orofaciodigital syndrome 20, MIM#620718 Tags
Green Green List (high evidence)	RAB3GAP2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 2, MIM# 614225 Tags
Green Green List (high evidence)	RAD51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Genomics England PanelApp Phenotypes Fanconi anaemia, complementation group R, MIM# 617244 Tags
Green Green List (high evidence)	RAD51C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group O, MIM# 613390 Tags
Green Green List (high evidence)	RAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Noonan syndrome 5, MIM# 611553 Tags
Green Green List (high evidence)	RBBP8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Jawad syndrome, MIM# 251255 Seckel syndrome 2, MONDO:0011715 Seckel syndrome 2, OMIM:606744 Tags
Green Green List (high evidence)	RBM10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Tarp syndrome, MONDO:0010711 TARP syndrome, OMIM:311900 Tags
Green Green List (high evidence)	RPL26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Diamond-Blackfan anaemia 11, MIM# 614900 Tags
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 8, MONDO:0012939 Diamond-Blackfan anemia 8, OMIM:612563 Tags
Green Green List (high evidence)	RRAS2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Noonan syndrome 12, MONDO:0032839 Noonan syndrome 12, OMIM:618624 Tags
Green Green List (high evidence)	RREB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Rasopathy, MONDO:0021060, RREB1-related Tags
Green Green List (high evidence)	RYR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Fetal akinesia sequence Tags
Green Green List (high evidence)	SAMHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 5, MIM#612952 Tags
Green Green List (high evidence)	SASS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microcephaly 14, primary, autosomal recessive, MIM# 616402 Tags
Green Green List (high evidence)	SATB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Glass syndrome, MIM# 612313 MONDO:0100147 Tags
Green Green List (high evidence)	SC5D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Lathosterolosis, MIM#607330 Tags
Green Green List (high evidence)	SCLT1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Bardet-Biedl syndrome Tags
Green Green List (high evidence)	SCN1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Dravet syndrome, OMIM:607208 Arthrogryposis multiplex congenita Tags
Green Green List (high evidence)	SCN3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Epilepsy, familial focal, with variable foci 4, MIM# 617935 Epileptic encephalopathy, early infantile, 62, MIM# 617938 Intellectual disability Malformations of cortical development Tags
Green Green List (high evidence)	SCN4A	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital myopathy 22B, severe fetal, MIM# 620369 Myasthenic syndrome, congenital, 16 MIM#614198 Tags
Green Green List (high evidence)	SCUBE3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 Tags
Green Green List (high evidence)	SDCCAG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anemia, congenital, type II 224100 COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Tags
Green Green List (high evidence)	SEC24D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Cole-Carpenter syndrome 2, MIM# 616294 Tags
Green Green List (high evidence)	SEMA3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes {Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897 congenital heart disease skeletal anomalies Tags
Green Green List (high evidence)	SETBP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 Tags
Green Green List (high evidence)	SF3B4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Acrofacial dysostosis 1, Nager type, MIM# 154400 Tags
Green Green List (high evidence)	SGPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SHOX	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Leri-Weill dyschondrosteosis, MIM# 127300 Langer mesomelic dysplasia, MIM#249700 Tags SV/CNV
Green Green List (high evidence)	SHROOM4	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Stocco dos Santos X-linked mental retardation syndrome, 300434 Tags
Green Green List (high evidence)	SIN3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Witteveen-Kolk syndrome, MIM # 613406 Tags
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Shprintzen-Goldberg syndrome, MIM#182212 Tags
Green Green List (high evidence)	SKIV2L	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Trichohepatoenteric syndrome 2, MIM#614602 Tags
Green Green List (high evidence)	SLC12A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 Tags
Green Green List (high evidence)	SLC25A24	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Fontaine progeroid syndrome, MIM#612289 Tags
Green Green List (high evidence)	SLC25A4	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Tags
Green Green List (high evidence)	SLC26A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Diarrhea 1, secretory chloride, congenital, MIM#214700 Tags
Green Green List (high evidence)	SLC29A3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Phenotypes H syndrome, MONDO:0011273 Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Tags
Green Green List (high evidence)	SLC35A2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIm (MIM #300896) Tags
Green Green List (high evidence)	SLC35D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Schneckenbecken dysplasia 269250, MONDO:0010013 O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Tags
Green Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIn , MIM#616721 Tags
Green Green List (high evidence)	SLC6A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Glycine encephalopathy with normal serum glycine 617301 Arthrogryposis Tags
Green Green List (high evidence)	SMAD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Congenital heart disease, MONDO:0005453, SMAD5-related Tags
Green Green List (high evidence)	SMARCA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Coffin-Siris syndrome 4, MIM# 614609 Tags
Green Green List (high evidence)	SMARCE1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 5, MIM# 616938 Tags
Green Green List (high evidence)	SMOC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia with limb anomalies, MIM# 206920 Tags
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Niemann-Pick disease, type A, MIM# 257200 MONDO:0009756 Tags
Green Green List (high evidence)	SNAPIN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393 Tags
Green Green List (high evidence)	SNORD118	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561 Tags non-coding gene
Green Green List (high evidence)	SNRPB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cerebrocostomandibular syndrome, MIM# 117650 Tags
Green Green List (high evidence)	SOX10	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes PCWH syndrome (MIM#609136) Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584) Waardenburg syndrome, type 4C (MIM#613266) Tags
Green Green List (high evidence)	SOX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microphthalmia, syndromic 3, MIM# 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900 Tags
Green Green List (high evidence)	SOX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Campomelic dysplasia with autosomal sex reversal (MIM#114290) Campomelic dysplasia (MIM#114290) Acampomelic campomelic dysplasia (MIM#114290) Tags
Green Green List (high evidence)	SPAG1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 28 (MIM#615505) Tags
Green Green List (high evidence)	SPATA5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Phenotypes Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Tags new gene name
Green Green List (high evidence)	SPEG	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Centronuclear myopathy 5, MIM# 615959 Tags
Green Green List (high evidence)	SRY	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes 46XY sex reversal 1, OMIM #400044 46XX sex reversal 1, OMIM #400045 Tags
Green Green List (high evidence)	STAG2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Mullegama-Klein-Martinez syndrome, MIM# 301022 Holoprosencephaly 13, X-linked, MIM# 301043 Tags
Green Green List (high evidence)	STAMBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly-capillary malformation syndrome, MIM# 614261 MONDO:0013659 Tags
Green Green List (high evidence)	STAR	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Lipoid adrenal hyperplasia (MIM#201710) Tags
Green Green List (high evidence)	STIL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly 7, primary, autosomal recessive, MONDO:0012989 Microcephaly 7, primary, autosomal recessive, OMIM:612703 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 9, MIM# 601186 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611 Tags
Green Green List (high evidence)	SUFU	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Basal cell nevus syndrome, MIM# 109400 Tags
Green Green List (high evidence)	SYT2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, MIM# 616040 Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags
Green Green List (high evidence)	TAFAZZIN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Barth syndrome, MIM#302060 Tags
Green Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Transaldolase deficiency, 606003 Fetal hydrops Tags
Green Green List (high evidence)	TAOK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay with or without intellectual impairment or behavioral abnormalities - MIM#619575 Tags
Green Green List (high evidence)	TBC1D1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CAKUT Tags
Green Green List (high evidence)	TBC1D20	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Warburg micro syndrome 4, MIM# 615663 Tags
Green Green List (high evidence)	TBC1D24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes DOORS syndrome MIM#220500 Tags
Green Green List (high evidence)	TBC1D32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Alsahan-Harris syndrome, MIM#621307 Orofaciodigital syndrome type IX, MIM#258865 Tags
Green Green List (high evidence)	TBCD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genetic Health Queensland Genomics England PanelApp Literature Victorian Clinical Genetics Services Phenotypes Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 Tags
Green Green List (high evidence)	TBX20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 4, MIM# 611363 Tags
Green Green List (high evidence)	TBX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ulnar-mammary syndrome, MIM# 181450 MONDO:0008411 Tags
Green Green List (high evidence)	TBX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891 Tags
Green Green List (high evidence)	TBX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Holt-Oram syndrome, MIM# 142900 Tags
Green Green List (high evidence)	TCF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis 3, MIM# 615314 Tags
Green Green List (high evidence)	TCF4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins syndrome, MIM# 610954 Tags
Green Green List (high evidence)	TCOF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Treacher Collins syndrome 1, MIM# 154500 Tags
Green Green List (high evidence)	TCTN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 Tags
Green Green List (high evidence)	TCTN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TELO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848 You-Hoover-Fong syndrome, OMIM:616954 Tags
Green Green List (high evidence)	TENM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Microphthalmia, isolated, with coloboma 9, MONDO:0014059 Microphthalmia, syndromic 15, MIM#615145 coloboma Tags
Green Green List (high evidence)	TENT5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type 18, MONDO:0044329 Osteogenesis imperfecta, type XVIII, OMIM:617952 Tags new gene name
Green Green List (high evidence)	TFAP2A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Branchiooculofacial syndrome, MIM# 113620 Tags
Green Green List (high evidence)	TFAP2B	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Char syndrome, MIM# 169100 Syndromic craniosynostosis Tags
Green Green List (high evidence)	TGDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Catel-Manzke syndrome, MIM# 616145 Tags
Green Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome 4, MIM# 614816 Tags
Green Green List (high evidence)	TGFBR2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Loeys-Dietz syndrome 2, MIM# 610168 Tags
Green Green List (high evidence)	THOC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Beaulieu-Boycott-Innes syndrome, MIM# 613680 Tags
Green Green List (high evidence)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Tags
Green Green List (high evidence)	TMEM107	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 29, OMIM:617562 Orofaciodigital syndrome 16, MONDO:0033045 Meckel syndrome 13, MONDO:0033044 Orofaciodigital syndrome XVI, OMIM:617563 Meckel syndrome 13, OMIM:617562 Tags
Green Green List (high evidence)	TMEM138	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 16, MIM# 614465 MONDO:0013764 Tags
Green Green List (high evidence)	TMEM165	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Congenital disorder of glycosylation, type IIk, MIM# 614727 TMEM165-CDG, MONDO:0013870 Tags
Green Green List (high evidence)	TMEM218	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 39 - MIM#619562 Tags
Green Green List (high evidence)	TMEM231	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164 Tags
Green Green List (high evidence)	TMEM260	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Structural heart defects and renal anomalies syndrome, OMIM:617478 Structural heart defects and renal anomalies syndrome, MONDO:0044321 Tags
Green Green List (high evidence)	TMEM5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022 Tags
Green Green List (high evidence)	TMEM94	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 Tags
Green Green List (high evidence)	TMTC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Lissencephaly 8 (MIM#617255) Tags
Green Green List (high evidence)	TMX2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 Tags
Green Green List (high evidence)	TNNI2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis multiplex congenita, distal, type 2B MIM#601680 Tags
Green Green List (high evidence)	TNNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 5, Amish type, MIM# 605355 Tags
Green Green List (high evidence)	TNNT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 Arthrogryposis, distal, type 2B2, MONDO:0032750 Tags
Green Green List (high evidence)	TOE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Pontocerebellar hypoplasia, type 7, OMIM:614969 Pontocerebellar hypoplasia type 7, MONDO:0013993 Tags
Green Green List (high evidence)	TOR1A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218 Tags
Green Green List (high evidence)	TP63	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Tags
Green Green List (high evidence)	TRAF3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TRAF7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Tags
Green Green List (high evidence)	TRAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Syndromic disease, MONDO:0002254, TRAP1-related Tags
Green Green List (high evidence)	TRAPPC9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Intellectual disability, autosomal recessive 13 (MIM# 613192) Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Tags
Green Green List (high evidence)	TRIM37	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Mulibrey nanism, OMIM #253250 Tags
Green Green List (high evidence)	TRIO	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Mental retardation, autosomal dominant 44, MIM# 617061 Tags
Green Green List (high evidence)	TRIP11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Achondrogenesis, type IA, MIM# 200600 Tags
Green Green List (high evidence)	TRMT10A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 MONDO:0000208 Tags
Green Green List (high evidence)	TSEN15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Pontocerebellar hypoplasia, type 2F MIM#617026 Tags
Green Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 3, MIM#610505 Tags
Green Green List (high evidence)	TTC21B	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Tags
Green Green List (high evidence)	TTC7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150 Tags
Green Green List (high evidence)	TTC8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TUBA1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Lissencephaly 3, MIM# 611603 Tags
Green Green List (high evidence)	TUBB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 6, MIM#615771 Tags
Green Green List (high evidence)	TUBB2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Green Green List (high evidence)	TUBB2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 7 MIM#610031 Tags
Green Green List (high evidence)	TUBB4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Leukodystrophy, hypomyelinating, 6, MIM# 602662 Tags
Green Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cortical dysplasia, complex, with other brain malformations 4, OMIM #615412 Tags
Green Green List (high evidence)	TUBGCP4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, MIM#616335 Tags
Green Green List (high evidence)	TUBGCP6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM#251270 Tags
Green Green List (high evidence)	TUFM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Combined oxidative phosphorylation deficiency 4, MIM #610678 Tags
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Genomics England PanelApp Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Sweeny-Cox syndrome, MIM# 617746 Robinow-Sorauf syndrome, MIM# 180750 Tags 5'UTR SV/CNV
Green Green List (high evidence)	TXNDC15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 14, MIM# 619879 Tags
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Burn-McKeown syndrome, MIM# 608572 Tags 5'UTR SV/CNV
Green Green List (high evidence)	UBE3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Kaufman oculocerebrofacial syndrome, MIM# 244450 MONDO:0009485 Tags
Green Green List (high evidence)	UBR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Johanson-Blizzard syndrome (MIM#243800) Tags
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Genomics England PanelApp Phenotypes Orotic aciduria MIM# 258900 Tags
Green Green List (high evidence)	USP14	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254, USP14-related Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features Tags
Green Green List (high evidence)	VAMP1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323 Tags
Green Green List (high evidence)	VPS33B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Tags
Green Green List (high evidence)	VPS35L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135 Tags
Green Green List (high evidence)	VSX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Microphthalmia with coloboma 3, MIM# 610092 Microphthalmia, isolated 2, MIM# 610093 Tags
Green Green List (high evidence)	WBP4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, WBP4-related Tags
Green Green List (high evidence)	WDPCP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Victorian Clinical Genetics Services Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376 Cranioectodermal dysplasia 4, MIM# 614378 Tags
Green Green List (high evidence)	WDR44	2 reviews 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)	WDR91	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Complex neurodevelopmental disorder MONDO:0100038 Tags
Green Green List (high evidence)	WLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zaki syndrome, MIM#619648 Tags
Green Green List (high evidence)	WNT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type XV, OMIM:615220 Tags
Green Green List (high evidence)	WNT7A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Fuhrmann syndrome, MIM# 228930 Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820 Tags
Green Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Denys-Drash syndrome, MIM# 194080 Frasier syndrome, MIM#136680 Tags
Green Green List (high evidence)	XRCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Short stature, microcephaly, and endocrine dysfunction, MIM#616541 Tags
Green Green List (high evidence)	XYLT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Genomics England PanelApp Literature Phenotypes Spondyloocular syndrome MIM# 605822 Tags
Green Green List (high evidence)	YAP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433 Tags
Green Green List (high evidence)	ZIC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 5, OMIM #609637 MONDO:0012322 Tags
Green Green List (high evidence)	ZIC3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Expert Review Green Genomics England PanelApp Phenotypes Congenital heart defects, nonsyndromic, 1, X-linked, MIM#306955 Heterotaxy, visceral, 1, X-linked, MIM#306955 VACTERL association, X-linked, MIM#314390 Tags
Green Green List (high evidence)	ZMPSTE24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612 MONDO:0012074 Restrictive dermopathy, lethal, MIM# 275210 MONDO:0010143 Tags
Green Green List (high evidence)	ZMYND10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 22, MIM#615444 Tags
Green Green List (high evidence)	ZNF335	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly 10, primary, autosomal recessive (MIM#615095) Tags
Green Green List (high evidence)	ZNF462	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Weiss-Kruszka syndrome OMIM#618619 Tags
Green Green List (high evidence)	ZNF526	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dentici-Novelli neurodevelopmental syndrome, MIM# 619877 Tags

Fetal anomalies (Version 2.0)

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