The latest signed off version for the GMS is v3.2. The current version, shown here, may differ from the signed-off version.

Intellectual disability (Version 3.1593)

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Coarse facial features including Coffin-Siris-like disorders, ID, Moderate, severe or profound intellectual disability, Schizophrenia plus additional features, Intellectual disability - microarray, fragile X and sequencing, R29
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Latest signed off version: v3.2 (13 Feb 2020)

Previous code: 558aa423bb5a16630e15b63c

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R29 Intellectual disability – microarray, fragile X and sequencing' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R29 Intellectual disability – microarray, fragile X and sequencing'.

The content of this panel (version 3.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/285/?version=3.2) was signed off under NHS Genomic Medicine Service governance on (13 Feb 2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel is also a constituent panel of super panels 'Hypotonic infant', 'White matter disorders - childhood onset' and 'Paediatric disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

Panel Activity

54 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Katherine Smith (Genomics England)

Group: Other
Workplace: Other
Richard Scott (North Thames GMC/UCL)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Caroline Wright (Sanger)

Group: other
Workplace: other
Dominic McMullan (Birmingham Women's NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sian Ellard (University of Exeter Medical School)

Group: other
Workplace: other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Andrea Haworth (ACGS, Congenica)

Group: Other biotech or pharmaceutical
Workplace: Other clinical service
Philip Stanier (UCL-ICH)

Group: GeCIP domain
Workplace: Research lab
Maria Bitner-Glindzicz (UCL)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Evan Reid (University of Cambridge)

Group: GeCIP domain
Workplace: Research lab
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Andrea Nemeth (University of Oxford)

Group: GeCIP domain
Workplace: NHS clinical service
emma baple (South West GMC)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
emma baple (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Alice Gardham (North West Thames Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Pedro Louro (Guy's Hospital)

Group: Other NHS organisation
Workplace: NHS clinical service
Andrew Douglas (University of Southampton / Wessex Clinical Genetics Service)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Cristina Dias (The Francis Crick Institute)

Group: NHS Genomic Medicine Centre
Workplace: Other
alisdair mcneill (Sheffield childrens hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Arianna Tucci (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Tord Jonson (Dep. of Clinical Genetics & Pathology, Lund, Sweden)

Group: Other
Workplace: Other diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
David Curtis (UCL)

Group: GeCIP domain
Workplace: Research lab
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Leanne Baxter (Queensland Pathology, Australia)

Group: Other
Workplace: Other diagnostic lab
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Chris Buxton (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Philip Dawson (Leadiant Biosciences)

Group: Other biotech or pharmaceutical
Workplace: Industry
Alistair Pagnamenta (University of Oxford)

Group: GeCIP domain
Workplace: Research lab
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Dmitrijs Rots (RadboudUMC)

Group: Other
Workplace: Research lab
Aleš Maver (Clinical Institute of Medical Genetics)

Group: Other
Workplace: Other diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Lothar Schlueter (PTC Therapeutics)

Group: Other
Workplace: Industry
Zerin Hyder (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Rachel Challis (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Julia Baptista (Faculty of Health, University of Plymouth)

Group: Other
Workplace: Other

2656 Entities

2586 reviewed, 1328 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2656 Entitiess
Green Green List (high evidence)	AAAS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome, OMIM:231550 Triple-A syndrome, MONDO:0009279 Tags
Green Green List (high evidence)	AARS	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339 Developmental and epileptic encephalopathy, 29, MONDO:0014593 Tags new-gene-name
Green Green List (high evidence)	AASS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperlysinemia, OMIM:238700 Hyperlysinemia (disease), MONDO:0009388 Tags
Green Green List (high evidence)	ABAT	6 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes GABA-transaminase deficiency, 613163 developmental delay Tags
Green Green List (high evidence)	ABCA2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808 Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 Tags
Green Green List (high evidence)	ABCC9	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 10, 608569 Atrial fibrillation, familial, 12, 614050 Hypertrichotic osteochondrodysplasia, 239850 CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA Tags watchlist_moi
Green Green List (high evidence)	ABCD1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Adrenoleukodystrophy, 300100 Adrenomyeloneuropathy, adult, 300100 ADRENOLEUKODYSTROPHY, X-LINKED Tags gene-therapy-trial
Green Green List (high evidence)	ABCD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type, 614857 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE MAHCJ Tags
Green Green List (high evidence)	ABHD16A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia Intellectual disability Tags
Green Green List (high evidence)	ABHD5	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Chanarin-Dorfman syndrome, 275630 CHANARIN-DORFMAN SYNDROME (CDS) Tags
Green Green List (high evidence)	ACAD9	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ACAD9 deficiency, 611126 ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY Tags
Green Green List (high evidence)	ACADM	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY Tags
Green Green List (high evidence)	ACADS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 Tags
Green Green List (high evidence)	ACO2	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Infantile cerebellar-retinal degeneration, OMIM:614559 Infantile cerebellar-retinal degeneration, MONDO:0013802 Tags Q2_22_MOI
Green Green List (high evidence)	ACOX1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Peroxisomal acyl-CoA oxidase deficiency, 264470 ADRENOLEUKODYSTROPHY PSEUDONEONATAL (PSEUDO-NALD) Tags
Green Green List (high evidence)	ACSL4	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 63, OMIM:300387 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome, MONDO:0010263 Tags Skewed X-inactivation
Green Green List (high evidence)	ACTB	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 BARAITSER-WINTER SYNDROME Tags
Green Green List (high evidence)	ACTG1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 20/26, 604717Baraitser-Winter syndrome 2, 614583 BARAITSER-WINTER SYNDROME Tags
Green Green List (high evidence)	ACTL6A	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes developmental delay intellectual disability Tags gene-checked
Green Green List (high evidence)	ACTL6B	5 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 76, OMIM:618468 Intellectual developmental disorder with severe speech and ambulation defects, OMIM:618470 Tags
Green Green List (high evidence)	ACY1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Aminoacylase 1 deficiency, 609924 AMINOACYLASE-1 DEFICIENCY Tags
Green Green List (high evidence)	ADAM22	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Epileptic encephalopathy, early infantile, 61 OMIM:617933 developmental and epileptic encephalopathy, 61 MONDO:0033370 Tags
Green Green List (high evidence)	ADAR	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Dyschromatosis symmetrica hereditaria, 127400Aicardi-Goutieres syndrome 6, 615010 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 Tags
Green Green List (high evidence)	ADARB1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 Tags
Green Green List (high evidence)	ADAT3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 Tags
Green Green List (high evidence)	ADD3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Tags
Green Green List (high evidence)	ADGRG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Polymicrogyria, bilateral frontoparietal, 606854 Tags
Green Green List (high evidence)	ADK	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia due to adenosine kinase deficiency 614300 Tags
Green Green List (high evidence)	ADNP	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 MRD28 Tags
Green Green List (high evidence)	ADSL	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ade(-)I bifunctional Adenylosuccinase deficiency, 103050 ADENYLOSUCCINASE DEFICIENCY (ADSL DEFICIENCY) Tags
Green Green List (high evidence)	AFF2	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, FRAXE type, 309548 FRAXE Syndrome FRAGILE X-E MENTAL RETARDATION SYNDROME (FRAXE) Tags nucleotide-repeat-expansion
Green Green List (high evidence)	AFF4	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME Tags
Green Green List (high evidence)	AGA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aspartylglucosaminuria, 208400 ASPARTYLGLUCOSAMINURIA (AGU) Tags
Green Green List (high evidence)	AGO1	7 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Autism Tags gene-checked
Green Green List (high evidence)	AGO2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability regression seizures Tags
Green Green List (high evidence)	AHCY	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 Tags treatable
Green Green List (high evidence)	AHDC1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes XIA-GIBBS SYNDROME Tags
Green Green List (high evidence)	AHI1	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3 608629 Tags
Green Green List (high evidence)	AIFM1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cowchock syndrome, OMIM:310490 Combined oxidative phosphorylation deficiency 6, OMIM:300816 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, OMIM:300232 Tags
Green Green List (high evidence)	AIMP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 Tags
Green Green List (high evidence)	AKT3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387 HEMIMEGALENCEPHALY AKT3 Tags mosaicism
Green Green List (high evidence)	ALDH18A1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT SPG9 Tags
Green Green List (high evidence)	ALDH3A2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sjogren-Larsson syndrome, OMIM:270200 Tags
Green Green List (high evidence)	ALDH4A1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hyperprolinemia, type II, 239510 HYPERPROLINEMIA TYPE 2 (HP-2) Tags
Green Green List (high evidence)	ALDH5A1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980 succinic semialdehyde dehydrogenase deficiency MONDO:0010083 Tags
Green Green List (high evidence)	ALDH7A1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PYRIDOXINE-DEPENDENT EPILEPSY Tags
Green Green List (high evidence)	ALG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ik, 608540 ALG1-CDG (CDG-IK) Tags
Green Green List (high evidence)	ALG11	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ip 613661 ALG11-CDG (CDG-IP) Tags
Green Green List (high evidence)	ALG12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G (CDG1G) Tags
Green Green List (high evidence)	ALG13	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 Victorian Clinical Genetics Services Phenotypes EPILEPTIC ENCEPHALOPATHIES. Tags
Green Green List (high evidence)	ALG3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Id, 601110 ALG3-CDG (CDG-ID) Tags
Green Green List (high evidence)	ALG6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ic, 603147 ALG6-CDG (CDG-IC) Tags
Green Green List (high evidence)	ALG8	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, 608104 ALG8-CDG (CDG-IH) Tags
Green Green List (high evidence)	ALG9	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay Congenital disorder of glycosylation, type Il 608776 Gillessen-Kaesbach-Nishimura syndrome 263210 Tags
Green Green List (high evidence)	ALMS1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ALSTROM SYNDROME, 203800 Tags
Green Green List (high evidence)	AMER1	4 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 BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopathia striata with cranial sclerosis 300373 Tags
Green Green List (high evidence)	AMPD2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA Pontocerebellar hypoplasia, type 9, 615809 Tags
Green Green List (high evidence)	AMT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Glycine encephalopathy, 605899 GLYCINE ENCEPHALOPATHY Tags
Green Green List (high evidence)	ANK2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder, MONDO:0100038 Tags
Green Green List (high evidence)	ANKRD11	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes KBG syndrome, 148050 KBG SYNDROME Tags
Green Green List (high evidence)	ANKRD17	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, speech delay, and dysmorphism Tags
Green Green List (high evidence)	AP1G1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (NDD) Intellectual Disability Epilepsy Tags
Green Green List (high evidence)	AP1S1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes MEDNIK syndrome, 609313 MEDNIK syndrome mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome Tags
Green Green List (high evidence)	AP1S2	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, OMIM:304340 Tags Q4_21_MOI
Green Green List (high evidence)	AP2M1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual developmental disorder 60 with seizures, 618587 Seizures Ataxia Generalized hypotonia Intellectual disability Global developmental delay Autistic behavior Tags missense
Green Green List (high evidence)	AP3B1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2 608233 Tags
Green Green List (high evidence)	AP3B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 48 617276 Tags
Green Green List (high evidence)	AP4B1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 47, autosomal recessive, OMIM:614066 Hereditary spastic paraplegia 47, MONDO:0013551 Tags
Green Green List (high evidence)	AP4E1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 51, autosomal recessive, OMIM:613744 Hereditary spastic paraplegia 51, MONDO:0013401 Tags
Green Green List (high evidence)	AP4M1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 50, autosomal recessive, 612936 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 (CPSQ3) Tags
Green Green List (high evidence)	AP4S1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 52, autosomal recessive, 614067 CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 Tags
Green Green List (high evidence)	APC2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 Tags
Green Green List (high evidence)	APOPT1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 Tags new-gene-name
Green Green List (high evidence)	ARCN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 Tags
Green Green List (high evidence)	ARF1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Periventricular nodular heterotopia 8, OMIM:618185 Tags
Green Green List (high evidence)	ARFGEF1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Tags gene-checked
Green Green List (high evidence)	ARFGEF2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Periventricular heterotopia with microcephaly, 608097 PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY Tags
Green Green List (high evidence)	ARG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Argininemia, OMIM:207800 Tags
Green Green List (high evidence)	ARHGEF9	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 8, OMIM:300607 Tags Q3_21_MOI
Green Green List (high evidence)	ARID1A	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 14, 614607 COFFIN-SIRIS SYNDROME CSS Tags
Green Green List (high evidence)	ARID1B	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 12, 614562 COFFIN SIRIS SYNDROME Tags
Green Green List (high evidence)	ARID2	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 6, 617808 ARID2-Coffin-Siris like disorder Tags
Green Green List (high evidence)	ARL13B	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 8, 612291 Intellectual disability Tags
Green Green List (high evidence)	ARL6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 3, 209900{Bardet-Biedl syndrome 1, modifier of}, 209900Retinitis pigmentosa 55, 613575 BARDET-BIEDL SYNDROME TYPE 3 (BBS3) Tags
Green Green List (high evidence)	ARMC9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome Intellectual Disability Tags
Green Green List (high evidence)	ARSA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ARYLSULFATASE A DEFICIENCY Tags
Green Green List (high evidence)	ARSB	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6) Tags
Green Green List (high evidence)	ARSE	5 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED Tags new-gene-name
Green Green List (high evidence)	ARV1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 38 Tags
Green Green List (high evidence)	ARX	4 reviews 4 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 1, 308350Lissencephaly, X-linked 2, 300215Mental retardation, X-linked 29 and others, 300419Proud syndrome, 300004Partington syndrome, 309510Hydranencephaly with abnormal genitalia, 300215 MENTAL RETARDATION X-LINKED ARX-RELATED (MRXARX) Tags nucleotide-repeat-expansion
Green Green List (high evidence)	ASAH1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FARBER LIPOGRANULOMATOSIS Tags
Green Green List (high evidence)	ASH1L	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 52, 617796 intellectual disability Tags
Green Green List (high evidence)	ASL	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Argininosuccinic aciduria 207900 Tags
Green Green List (high evidence)	ASNS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Asparagine synthetase deficiency, 615574 congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures Tags
Green Green List (high evidence)	ASPA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Canavan disease, 271900 CANAVAN DISEASE Tags
Green Green List (high evidence)	ASPM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly 5, primary, autosomal recessive, 608716 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY Tags
Green Green List (high evidence)	ASS1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Citrullinemia, 215700 intellectual disability Tags
Green Green List (high evidence)	ASXL1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, 605039Myelodysplastic syndrome, somatic, 614286 BOHRING-OPITZ SYNDROME Tags
Green Green List (high evidence)	ASXL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shashi-Pena syndrome 617190 Tags
Green Green List (high evidence)	ASXL3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bainbridge-Ropers syndrome, OMIM:615485 Tags
Green Green List (high evidence)	ATAD1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperekplexia 4, OMIM:618011 Tags treatable
Green Green List (high evidence)	ATAD3A	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Harel-Yoon syndrome 617183 Tags
Green Green List (high evidence)	ATIC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes AICA-ribosiduria due to ATIC deficiency, 608688 AICA-RIBOSURIA (AICAR) Tags
Green Green List (high evidence)	ATM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia, OMIM:208900 Tags
Green Green List (high evidence)	ATN1	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 Tags
Green Green List (high evidence)	ATP13A2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PARKINSON DISEASE 9 Tags
Green Green List (high evidence)	ATP1A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Hypomagnesemia Seizures Intellectual disability Tags
Green Green List (high evidence)	ATP1A2	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Migraine, familial hemiplegic, 2 602481 Alternating hemiplegia of childhood 1, 104290 Tags
Green Green List (high evidence)	ATP1A3	7 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Alternating Hemiplegia of Childhood (AHC), intellectual disability Tags
Green Green List (high evidence)	ATP6AP2	6 reviews 2 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic, Hedera type, 300423 MENTAL RETARDATION X-LINKED WITH EPILEPSY X-linked intellectual disability, Hedera type Tags
Green Green List (high evidence)	ATP6V0A2	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cutis laxa, autosomal recessive, type IIA 219200 Wrinkly skin syndrome 278250 Tags
Green Green List (high evidence)	ATP6V1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 93, OMIM:618012 Tags
Green Green List (high evidence)	ATP6V1B2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes ZIMMERMANN-LABAND SYNDROME Tags
Green Green List (high evidence)	ATP7A	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Menkes disease, 309400Occipital horn syndrome, 304150Spinal muscular atrophy, distal, X-linked 3, 300489 OCCIPITAL HORN SYNDROME Tags
Green Green List (high evidence)	ATP8A2	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 OMIM:615268 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104 Tags
Green Green List (high evidence)	ATP9A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Global developmental delay Intellectual disability Postnatal microcephaly Failure to thrive Abnormality of the abdomen Tags gene-checked
Green Green List (high evidence)	ATR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Seckel syndrome 1, 210600Cutaneous telangiectasia and cancer syndrome, familial, 614564 SECKEL SYNDROME TYPE 1 (SCKL1) Tags
Green Green List (high evidence)	ATRX	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040 Mental retardation-hypotonic facies syndrome, X-linked, 309580 Tags
Green Green List (high evidence)	AUH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type I, 250950 3-METHYLGLUTACONIC ACIDURIA TYPE 1 Tags
Green Green List (high evidence)	AUTS2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SYNDROMIC INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	B3GALNT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 Tags
Green Green List (high evidence)	B3GLCT	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peters-plus syndrome, 261540 Tags
Green Green List (high evidence)	B4GALNT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Expert Review Green Phenotypes Spastic paraplegia 26, autosomal recessive OMIM:609195 hereditary spastic paraplegia 26 MONDO:0012213 Tags
Green Green List (high evidence)	B4GALT7	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, progeroid type, 1, 130070 EHLERS-DANLOS SYNDROME PROGEROID TYPE (EDSP) Tags
Green Green List (high evidence)	B9D2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, 209900 BARDET-BIEDL SYNDROME TYPE 10 (BBS10) Tags
Green Green List (high evidence)	BBS12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, 209900 BARDET-BIEDL SYNDROME TYPE 12 (BBS12) Tags
Green Green List (high evidence)	BBS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, 209900 BARDET-BIEDL SYNDROME TYPE 2 (BBS2) Tags
Green Green List (high evidence)	BBS4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, 209900 BARDET-BIEDL SYNDROME TYPE 4 (BBS4) Tags
Green Green List (high evidence)	BBS5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, 209900 BARDET-BIEDL SYNDROME TYPE 5 (BBS5) Tags
Green Green List (high evidence)	BBS7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, 209900 BARDET-BIEDL SYNDROME TYPE 7 (BBS7) Tags
Green Green List (high evidence)	BBS9	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, 209900 BARDET-BIEDL SYNDROME TYPE 9 (BBS9) Tags
Green Green List (high evidence)	BCAP31	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS Tags
Green Green List (high evidence)	BCAS3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic neurodevelopmental disorder Tags
Green Green List (high evidence)	BCKDHA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type Ia, 248600 MAPLE SYRUP URINE DISEASE Tags
Green Green List (high evidence)	BCKDHB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Maple syrup urine disease, type Ib, 248600 MAPLE SYRUP URINE DISEASE Tags
Green Green List (high evidence)	BCKDK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 Intellectual disability Tags
Green Green List (high evidence)	BCL11A	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	BCL11B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 Tags
Green Green List (high evidence)	BCOR	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 2, 300166 MICROPHTHALMIA SYNDROMIC TYPE 2 (MCOPS2) Tags
Green Green List (high evidence)	BCS1L	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 Tags
Green Green List (high evidence)	BICRA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features Tags
Green Green List (high evidence)	BLM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bloom syndrome, 210900 BLOOM SYNDROME Tags
Green Green List (high evidence)	BMP4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microphthalmia, syndromic 6 607932 Global developmental delay Tags
Green Green List (high evidence)	BOLA3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 Tags
Green Green List (high evidence)	BPTF	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 intellectual disability Tags
Green Green List (high evidence)	BRAF	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Melanoma, malignant, somaticColorectal cancer, somaticAdenocarcinoma of lung, somatic, 211980Nonsmall cell lung cancer, somaticCardiofaciocutaneous syndrome, 115150Noonan syndrome 7, 613706LEOPARD syndrome 3, 613707 NOONAN SYNDROME TYPE 7 (NS7) Tags
Green Green List (high evidence)	BRAT1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME Tags
Green Green List (high evidence)	BRD4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual disability Microcephaly Abnormal heart morphology Abnormality of the face Tags gene-checked
Green Green List (high evidence)	BRF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Cerebellofaciodental syndrome, 616202 intellectual disability Tags
Green Green List (high evidence)	BRPF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with dysmorphic facies and ptosis 617333 Tags
Green Green List (high evidence)	BRSK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay Autism Behavioral abnormality Global developmental delay, Intellectual disability, Autism, Behavioral abnormality Intellectual disability Tags gene-checked
Green Green List (high evidence)	BRWD3	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 93, 300659 MENTAL RETARDATION X-LINKED TYPE 93 (MRX93) Tags
Green Green List (high evidence)	BSCL2	6 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 Lipodystrophy, congenital generalized, type 2, OMIM:269700 Tags Q3_21_MOI
Green Green List (high evidence)	BTD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Biotinidase deficiency, 253260 BIOTINIDASE DEFICIENCY Tags
Green Green List (high evidence)	BUB1B	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Colorectal cancer, somatic, 114500Mosaic variegated aneuploidy syndrome 1, 257300[Premature chromatid separation trait], 176430 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 MVA1 Tags
Green Green List (high evidence)	C12orf4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Autosomal recessive intellectual disability Tags
Green Green List (high evidence)	C12orf57	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Temtamy syndrome, 218340 TEMTAMY SYNDROME COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	C12orf65	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Green Green List (high evidence)	C2CD3	7 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome XIV, 615948 Joubert-related disorder Tags
Green Green List (high evidence)	C5orf42	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes JOUBERT SYNDROME Tags new-gene-name
Green Green List (high evidence)	CA2	5 reviews 4 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 (OPTB3) carbonic anhydrase II deficiency intellectual disability Tags
Green Green List (high evidence)	CA8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 (CMARQ3) Tags
Green Green List (high evidence)	CACNA1A	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Developemental and epileptic encephalopathy 42, OMIM:617106 Tags
Green Green List (high evidence)	CACNA1B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497 Progressive Epilepsy-Dyskinesia Seizures Abnormality of movement Intellectual disability Developmental regression Global developmental delay Tags
Green Green List (high evidence)	CACNA1C	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Brugada syndrome 3 611875 Timothy syndrome 601005 Tags
Green Green List (high evidence)	CACNA1D	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD Sinoatrial node dysfunction and deafness 614896 AR Tags
Green Green List (high evidence)	CACNA1E	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Dystonia Congenital contracture Macrocephaly Epileptic encephalopathy, early infantile, 69, 618285 Tags
Green Green List (high evidence)	CACNA1G	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Spinocerebellar ataxia 42 616795 Cerebellar atrophy, epilepsy, intellectual disability Tags
Green Green List (high evidence)	CACNA1I	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder Tags gene-checked
Green Green List (high evidence)	CAD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 50, OMIM:616457 Tags
Green Green List (high evidence)	CAMK2A	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 53, OMIM:617798 ?Mental retardation, autosomal recessive 63, OMIM:618095 Tags watchlist_moi
Green Green List (high evidence)	CAMK2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 54, OMIM:617799 Tags
Green Green List (high evidence)	CAMK4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Other Phenotypes Global developmental delay Intellectual disability Autism Behavioral abnormality Abnormality of movement Dystonia Ataxia Chorea Myoclonus Tags gene-checked
Green Green List (high evidence)	CAMTA1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION Tags
Green Green List (high evidence)	CAPN15	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 Tags
Green Green List (high evidence)	CARS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891 Tags new-gene-name
Green Green List (high evidence)	CASK	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422 MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK) Tags
Green Green List (high evidence)	CBL	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA Tags
Green Green List (high evidence)	CBS	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Homocystinuria, B6-responsive and nonresponsive types, 236200 Thrombosis, hyperhomocysteinemic, 236200 CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD) Tags
Green Green List (high evidence)	CC2D1A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 3, 608443 MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 (MRT3) Tags
Green Green List (high evidence)	CC2D2A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, 612285Meckel syndrome 6, 612284COACH syndrome, 216360 MECKEL SYNDROME, TYPE 6 MKS6 Tags
Green Green List (high evidence)	CCBE1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hennekam lymphangiectasia-lymphedema syndrome, 235510 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME (HLLS) Tags
Green Green List (high evidence)	CCDC22	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes SYNDROMIC X-LINKED INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CCDC47	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Woolly hair Abnormality of the liver Global developmental delay Intellectual disability Trichohepatoneurodevelopmental syndrome, 618268 Tags gene-checked
Green Green List (high evidence)	CCDC88C	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia 40 616053 AD Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR Tags
Green Green List (high evidence)	CCND2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME Tags
Green Green List (high evidence)	CDC42	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Takenouchi-Kosaki syndrome, 616737 Intellectual disability Tags
Green Green List (high evidence)	CDC6	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 5 Tags
Green Green List (high evidence)	CDH11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Elsahy-Waters syndrome, OMIM:211380 Teebi hypertelorism syndrome Tags
Green Green List (high evidence)	CDH2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 Tags
Green Green List (high evidence)	CDK10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Al Kaissi syndrome, 617694 intellectual disability Tags
Green Green List (high evidence)	CDK13	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual development disorder 617360 Tags
Green Green List (high evidence)	CDK19	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Epileptic encephalopathy, early infantile, 87 618916 Tags
Green Green List (high evidence)	CDK5RAP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly 3, primary, autosomal recessive, 604804 PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY Tags
Green Green List (high evidence)	CDK8	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual developmental disorder with hypotonia and behavioral abnormalities, OMIM:618748 Tags
Green Green List (high evidence)	CDKL5	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 (EIEE2) Tags
Green Green List (high evidence)	CDON	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly 11, 614226 HOLOPROSENCEPHALY 11 Tags
Green Green List (high evidence)	CENPF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Stromme syndrome 243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green Green List (high evidence)	CENPJ	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly 6, primary, autosomal recessive, 608393Seckel syndrome 4, 613676 MICROCEPHALY PRIMARY TYPE 6 (MCPH6) Tags
Green Green List (high evidence)	CEP104	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 25, 616781 Tags
Green Green List (high evidence)	CEP120	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Joubert syndrome 31 (617761) Short-rib thoracic dysplasia 13 with or without polydactyly (616300) Tags
Green Green List (high evidence)	CEP135	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 8, primary, autosomal recessive, 614673 PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION Tags
Green Green List (high evidence)	CEP152	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microcephaly 9, primary, autosomal recessive, 614852Seckel syndrome 5, 613823 MICROCEPHALY PRIMARY TYPE 4 (MCPH4) Tags
Green Green List (high evidence)	CEP290	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900 BARDET-BIEDL SYNDROME TYPE 14 (BBS14) Tags
Green Green List (high evidence)	CEP41	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15, 614464 JOUBERT SYNDROME 15 Tags
Green Green List (high evidence)	CEP55	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes microcephaly, delayed development, and bilateral toe syndactyly Tags
Green Green List (high evidence)	CEP57	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 Tags
Green Green List (high evidence)	CEP83	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CEP85L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Lissencephaly 10, OMIM:618873 Lissencephaly 10, MONDO:0030031 Tags gene-checked
Green Green List (high evidence)	CHAMP1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CHD2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, childhood-onset, 615369 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CHD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Macrocephaly Snijders Blok-Campeau syndrome, 618205 Tags
Green Green List (high evidence)	CHD4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Sifrim-Hitz-Weiss syndrome OMIM:617159 Sifrim-Hitz-Weiss syndrome MONDO:0014946 Tags
Green Green List (high evidence)	CHD5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Tags gene-checked
Green Green List (high evidence)	CHD7	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, 214800{Scoliosis, idiopathic 3}, 608765Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 KALLMANN SYNDROME TYPE 5 (KAL5) Tags
Green Green List (high evidence)	CHD8	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Overgrowth with Intellectual disability Tags
Green Green List (high evidence)	CHKB	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital, megaconial type, 602541 Tags
Green Green List (high evidence)	CHMP1A	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 8 614961 Tags
Green Green List (high evidence)	CIC	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 45 617600 Tags
Green Green List (high evidence)	CIT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microcephaly 17, primary, autosomal recessive, 617090 Tags
Green Green List (high evidence)	CKAP2L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION Tags
Green Green List (high evidence)	CLCN3	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512 Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 Tags
Green Green List (high evidence)	CLCN4	6 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Mental retardation, X-linked 49-15 300114 Tags
Green Green List (high evidence)	CLN3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Ceroid lipofuscinosis, neuronal, 3, 204200 NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3) Tags
Green Green List (high evidence)	CLN5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 6 Tags
Green Green List (high evidence)	CLN8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Ceroid lipofuscinosis, neuronal, 8, 600143Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 (CLN8) Tags
Green Green List (high evidence)	CLP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia 10 OMIM:615803 Pontocerebellar hypoplasia type 10 MONDO:0014349 Tags founder-effect
Green Green List (high evidence)	CLPB	6 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 Tags
Green Green List (high evidence)	CLTC	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Mental retardation, autosomal dominant 56, OMIM:617854 Tags
Green Green List (high evidence)	CNKSR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes INTELLECTUAL DISABILITY WITH EPILEPSY X-linked intellectual disability XLID Tags
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypomagnesemia, seizures, and mental retardation 616418 Tags
Green Green List (high evidence)	CNOT1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Holoprosencephaly 12, with or without pancreatic agenesis, 618500 global developmental delay Tags
Green Green List (high evidence)	CNOT2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, 618608 Tags
Green Green List (high evidence)	CNOT3	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes CNOT3 syndrome intellectual disability, global developmental delay Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672 Tags
Green Green List (high evidence)	CNTNAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypomyelinating neuropathy, congenital, 3 618186 Lethal congenital contracture syndrome 7 616286 Tags
Green Green List (high evidence)	CNTNAP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042 CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME (CDFES) Tags
Green Green List (high evidence)	COASY	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration with brain iron accumulation 6, 615643 Tags
Green Green List (high evidence)	COG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIg, 611209 COG1-CDG (CDG-IIG) Tags
Green Green List (high evidence)	COG4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIj, 613489 COG4-CDG (CDG-IIJ) Tags
Green Green List (high evidence)	COG5	6 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type III, 613612 COG5-CDG CDG-III Tags Q3_21_MOI
Green Green List (high evidence)	COG6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIl, 614576 Shaheen syndrome, 615328 Tags
Green Green List (high evidence)	COG7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIe, 608779 COG7-CDG (CDG-IIE) Tags
Green Green List (high evidence)	COG8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIh, 611182 COG8-CDG (CDG-IIH) Tags
Green Green List (high evidence)	COL4A1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Porencephaly 1, 175780Brain small vessel disease with hemorrhage, 607595Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773Brain small vessel disease with Axenfeld-Rieger anomaly, 607595{Hemorrhage, intracerebral, susceptibility to}, 614519 PORENCEPHALY 1 Tags
Green Green List (high evidence)	COL4A2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519 PORENCEPHALY 2 Tags
Green Green List (high evidence)	COL4A3BP	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags new-gene-name
Green Green List (high evidence)	COLEC11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3MC syndrome 2, 265050 3MC SYNDROME 2 Tags
Green Green List (high evidence)	COPB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes osteoporosis developmental delay Tags
Green Green List (high evidence)	COQ4	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 7 Tags
Green Green List (high evidence)	COQ8A	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 4, 612016 COENZYME Q10 DEFICIENCY Tags
Green Green List (high evidence)	COX10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LEIGH SYNDROME (LS) Tags
Green Green List (high evidence)	COX15	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to cytochrome c oxidase deficiency, 256000Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 MITOCHONDRIAL COMPLEX IV DEFICIENCY (MT-C4D) Tags
Green Green List (high evidence)	CPE	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder and hypogonadotropic hypogonadism, OMIM:619326 Tags
Green Green List (high evidence)	CPS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Carbamoylphosphate synthetase I deficiency, 237300{Pulmonary hypertension, neonatal, susceptibility to}, 615371{Venoocclusive disease after bone marrow transplantation} CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY (CPS1D) Tags
Green Green List (high evidence)	CRADD	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499 Tags
Green Green List (high evidence)	CRB2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE Tags
Green Green List (high evidence)	CREBBP	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Rubinstein-Taybi syndrome, 180849 RUBINSTEIN-TAYBI SYNDROME TYPE 1 (RSTS1) Tags
Green Green List (high evidence)	CSDE1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Autism Global developmental delay Intellectual disability Tags gene-checked
Green Green List (high evidence)	CSNK1G1	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes severe non-syndromic early-onset epilepsy Global developmental delay Intellectual disability Autism Seizures Abnormality of the face Abnormality of limbs Tags gene-checked
Green Green List (high evidence)	CSNK2A1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Okur-Chung neurodevelopmental syndrome, OMIM:617062 Tags
Green Green List (high evidence)	CSNK2B	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732 Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 Tags
Green Green List (high evidence)	CSPP1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY Tags
Green Green List (high evidence)	CSTB	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CTBP1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 Tags missense
Green Green List (high evidence)	CTCF	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CTDP1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, facial dysmorphism, and neuropathy, 604168 CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN) Tags
Green Green List (high evidence)	CTNNA2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 Tags
Green Green List (high evidence)	CTNNB1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 19, 615075Colorectal cancer, somatic, 114500Pilomatricoma, somatic, 132600Ovarian cancer, somatic, 167000Hepatocellular carcinoma, somatic, 114550 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 Tags
Green Green List (high evidence)	CTNND1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes developmental delay Tags
Green Green List (high evidence)	CTSA	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Galactosialidosis, 256540 GALACTOSIALIDOSIS (GSL) Tags
Green Green List (high evidence)	CTSD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 10, 610127 NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 (CLN10) Tags
Green Green List (high evidence)	CTU2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes DREAM‐PL syndrome Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 Tags
Green Green List (high evidence)	CUL4B	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE (MRXC) Tags
Green Green List (high evidence)	CUX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Global developmental delay with or without impaired intellectual development, 618330 Tags
Green Green List (high evidence)	CUX2	8 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 67, OMIM:618141 Seizures Intellectual disability Autistic behaviour Tags Q3_21_NHS_review
Green Green List (high evidence)	CWC27	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa with or without skeletal anomalies, 250410 Tags
Green Green List (high evidence)	CWF19L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 intellectual disability, developmental delay Tags
Green Green List (high evidence)	CXorf56	6 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 Literature Radboud University Medical Center, Nijmegen Phenotypes ?Mental retardation, X-linked 107, 301013 Tags gene-checked new-gene-name Skewed X-inactivation
Green Green List (high evidence)	CYB5R3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Methemoglobinemia, type I, 250800Methemoglobinemia, type II, 250800 METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE Tags
Green Green List (high evidence)	CYC1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 MC3DN6 Tags
Green Green List (high evidence)	CYFIP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 65, 618008 Epileptic encephalopathy, early infantile 65, 618008 Tags
Green Green List (high evidence)	D2HGDH	6 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes D-2-hydroxyglutaric aciduria, 600721 Tags
Green Green List (high evidence)	DAG1	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Walker-Warburg syndrome Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 Tags
Green Green List (high evidence)	DARS	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. Tags new-gene-name
Green Green List (high evidence)	DARS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION Tags
Green Green List (high evidence)	DBT	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, type II, 248600 MAPLE SYRUP URINE DISEASEQ Tags
Green Green List (high evidence)	DCAF17	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Woodhouse-Sakati syndrome, 241080 WOODHOUSE-SAKATI SYNDROME (WOSAS) Tags
Green Green List (high evidence)	DCHS1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Van Maldergem syndrome 1, OMIM:601390 Tags
Green Green List (high evidence)	DCPS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Al-Raqad syndrome, 616459 Al-Raqad syndrome (OMIM 616459) Tags
Green Green List (high evidence)	DCX	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Lissencephaly, X-linked, 300067Subcortical laminal heteropia, X-linked, 300067 SUBCORTICAL BAND HETEROTOPIA X-LINKED (SBHX) Tags
Green Green List (high evidence)	DDB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability Tags
Green Green List (high evidence)	DDC	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, OMIM:608643 Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 Tags
Green Green List (high evidence)	DDHD2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 54, autosomal recessive, 615033 COMPLEX HEREDITARY SPASTIC PARAPLEGIA Tags
Green Green List (high evidence)	DDX11	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes WARSAW BREAKAGE SYNDROME (WBRS) Tags
Green Green List (high evidence)	DDX3X	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Intellectual disability, Mental retardation, X-linked 102, 300958 Tags
Green Green List (high evidence)	DDX59	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green Green List (high evidence)	DDX6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Unsteady gait Abnormality of the cardiovascular system Abnormality of the genitourinary system Abnormality of limbs Tags
Green Green List (high evidence)	DEAF1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 Mental retardation, autosomal dominant 24, 615828 Tags
Green Green List (high evidence)	DEGS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy hypomyelinating 18, MIM 618404) developmental delay Tags
Green Green List (high evidence)	DEPDC5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epilepsy, familial focal, with variable foci 1, OMIM:604364 Tags
Green Green List (high evidence)	DHCR24	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Desmosterolosis, 602398 DESMOSTEROLOSIS Tags
Green Green List (high evidence)	DHCR7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome, 270400 SMITH-LEMLI-OPITZ SYNDROME (SLOS) Tags
Green Green List (high evidence)	DHDDS	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags Q4_21_MOI
Green Green List (high evidence)	DHFR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY Tags
Green Green List (high evidence)	DHPS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Abnormality of head or neck Seizures Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck EEG abnormality Behavioral abnormality Abnormal muscle tone Intellectual disability Global developmental delay Tags
Green Green List (high evidence)	DHTKD1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 2-aminoadipic 2-oxoadipic aciduria, 204750 Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA Tags
Green Green List (high evidence)	DHX30	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes microcephaly, developmental delay intellectual disability, mild cerebral volume loss, hypotonia, seizures, short stature, failure to thrive, and generalized hirsutism Tags
Green Green List (high evidence)	DHX37	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731 Tags
Green Green List (high evidence)	DIAPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Seizures, cortical blindness, microcephaly syndrome, 616632 developmental delay intellectual disability Tags
Green Green List (high evidence)	DIS3L2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags deletions non-coding-known-pathogenic
Green Green List (high evidence)	DKC1	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked, 305000 DKC1-RELATED DYSKERATOSIS CONGENITA Tags
Green Green List (high evidence)	DLD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY Tags
Green Green List (high evidence)	DLG3	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 90, 300850 MENTAL RETARDATION X-LINKED TYPE 90 (MRX90) Tags
Green Green List (high evidence)	DLG4	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual disability Marfanoid habitus Intellectual developmental disorder 62 #618793 Tags microduplication
Green Green List (high evidence)	DLL1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709 Tags
Green Green List (high evidence)	DMD	5 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Duchenne muscular dystrophy, 310200Becker muscular dystrophy, 300376Cardiomyopathy, dilated, 3B, 302045 BECKER MUSCULAR DYSTROPHY (BMD) Tags gene-therapy-trial Skewed X-inactivation
Green Green List (high evidence)	DMPK_CTG STR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags STR
Green Green List (high evidence)	DMXL2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Sensorineural Hearing Loss ORPHA90636 Epileptic encephalopathy, early infantile, 81, 618663 ?Polyendocrine-polyneuropathy syndrome, 616113 Tags
Green Green List (high evidence)	DNAJC12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 Hyperphenylalaninemia, Dystonia, and Intellectual Disability Tags
Green Green List (high evidence)	DNAJC19	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria, type V, 610198 Tags
Green Green List (high evidence)	DNM1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 31, OMIM:616346 Tags
Green Green List (high evidence)	DNM1L	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 Tags
Green Green List (high evidence)	DNMT3A	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tatton-Brown-Rahman syndrome OMIM:615879 Heyn-Sproul-Jackson syndrome OMIM:618724 MONDO:0032882 Tags
Green Green List (high evidence)	DNMT3B	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 Tags
Green Green List (high evidence)	DOCK3	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661 Tags
Green Green List (high evidence)	DOCK6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adams-Oliver syndrome 2, 614219 intellectual disability, developmental delay Tags
Green Green List (high evidence)	DOCK7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 EIEE23 Tags
Green Green List (high evidence)	DOCK8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 2, 614113Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE (AR-HIES) Tags
Green Green List (high evidence)	DOLK	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green Green List (high evidence)	DPAGT1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ij, 608093Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 Tags
Green Green List (high evidence)	DPF2	5 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Coffin-Siris syndrome 7, 618027 intellectual disability Tags dominant-negative
Green Green List (high evidence)	DPH1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 Tags
Green Green List (high evidence)	DPM1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type Ie, OMIM:608799 Tags
Green Green List (high evidence)	DPM2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iu, OMIM:615042 Tags
Green Green List (high evidence)	DPP6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes autosomal dominant microcephaly and mental retardation Mental retardation, autosomal dominant 33, 616311 Tags deletions
Green Green List (high evidence)	DPYD	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Dihydropyrimidine dehydrogenase deficiency, 2742705-fluorouracil toxicity, 274270 Tags pharmacogenetics
Green Green List (high evidence)	DPYS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Dihydropyrimidinuria, OMIM:222748 Tags
Green Green List (high evidence)	DPYSL5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities Tags
Green Green List (high evidence)	DYM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dyggve-Melchior-Clausen disease, 223800Smith-McCort dysplasia, 607326 SMITH-MCCORT DYSPLASIA (SMC) Tags
Green Green List (high evidence)	DYNC1H1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, Dominant Charcot-Marie-Tooth disease, axonal, type 20, 614228 Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity-predominant, AD, 158600 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD Tags
Green Green List (high evidence)	DYRK1A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 7, 614104 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 Tags
Green Green List (high evidence)	EARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 12, MIM#614924 Tags
Green Green List (high evidence)	EBF3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, ataxia, and delayed development syndrome OMIM:617330 hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Tags
Green Green List (high evidence)	EBP	5 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 Victorian Clinical Genetics Services Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED Tags
Green Green List (high evidence)	EED	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Cohen-Gibson syndrome, 617561 Human overgrowth syndrome type Overgrowth with Intellectual disability Tags
Green Green List (high evidence)	EEF1A2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	EFTUD2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, 610536 MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY MFDM Tags
Green Green List (high evidence)	EHMT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Kleefstra syndrome, 610253 9Q SUBTELOMERIC DELETION SYNDROME (9Q- SYNDROME) Tags
Green Green List (high evidence)	EIF2AK2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, OMIM:618877 Tags missense
Green Green List (high evidence)	EIF2AK3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Wolcott-Rallison syndrome, 226980 WOLCOTT-RALLISON SYNDROME (WRS) Tags
Green Green List (high evidence)	EIF2S3	4 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic, Borck type, 300987 Tags
Green Green List (high evidence)	EIF3F	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Mental retardation, autosomal recessive 67, OMIM:618295 Tags
Green Green List (high evidence)	EIF4A3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Robin sequence with cleft mandible and limb anomalies, 268305 Richieri-Costa-Pereira syndrome intellectual disability Tags nucleotide-repeat-expansion
Green Green List (high evidence)	EIF5A	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Faundes-Banka syndrome, OMIM:619376 Tags
Green Green List (high evidence)	ELAC2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	ELOVL4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION Tags
Green Green List (high evidence)	ELP2	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mental retardation, autosomal recessive 58 617270 Tags
Green Green List (high evidence)	EMC1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM 616875 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 Tags
Green Green List (high evidence)	EMC10	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 Tags
Green Green List (high evidence)	EML1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Band heterotopia, OMIM:600348 Tags
Green Green List (high evidence)	EMX2	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Schizencephaly 269160 Tags
Green Green List (high evidence)	EP300	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2 (RSTS2) Tags
Green Green List (high evidence)	EPG5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Tags
Green Green List (high evidence)	ERBB4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability MONDO:0001071 Tags
Green Green List (high evidence)	ERCC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FANCONI ANEMIA Tags
Green Green List (high evidence)	ERCC2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 (COFS2) Tags
Green Green List (high evidence)	ERCC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group B, 610651Trichothiodystrophy, 601675 XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B (XP-B) Tags
Green Green List (high evidence)	ERCC5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Xeroderma pigmentosum, group G, 278780Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G (XP-G) Tags
Green Green List (high evidence)	ERCC6	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes De Sanctis-Cacchione syndrome, OMIM:278800 Tags
Green Green List (high evidence)	ERCC6L2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bone marrow failure syndrome 2, 615715 Tags
Green Green List (high evidence)	ERCC8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cockayne syndrome, type A, 216400UV-sensitive syndrome 2, 614621 COCKAYNE SYNDROME TYPE A (CSA) Tags
Green Green List (high evidence)	ERLIN2	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 18, autosomal recessive, 611225 intellectual disability AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	ESCO2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Roberts syndrome, 268300SC phocomelia syndrome, 269000 SC PHOCOMELIA SYNDROME (SCPS) Tags
Green Green List (high evidence)	ETFA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2A Tags
Green Green List (high evidence)	ETFB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2B Tags
Green Green List (high evidence)	ETFDH	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2C Tags
Green Green List (high evidence)	ETHE1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Ethylmalonic encephalopathy, 602473 ETHYLMALONIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	EXOSC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pontocerebellar hypoplasia, type 1B, OMIM:614678 Tags
Green Green List (high evidence)	EXT2	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Phenotypes Seizures, scoliosis, and macrocephaly syndrome, 616682 autosomal recessive EXT2-related syndrome Tags
Green Green List (high evidence)	EXTL3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425 Tags
Green Green List (high evidence)	EZH2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes WEAVER SYNDROME 2 Tags
Green Green List (high evidence)	FAM111A	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes KENNY-CAFFEY SYNDROME (KCS [MIM 127000]) Tags
Green Green List (high evidence)	FAM126A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 5, 610532 LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5) Tags
Green Green List (high evidence)	FAM20C	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RAINE SYNDROME Tags
Green Green List (high evidence)	FAM50A	3 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 Literature Phenotypes Mental retardation syndrome, X-linked, Armfield type, OMIM:300261 Armfield syndrome, MONDO:0010284 Tags
Green Green List (high evidence)	FAR1	6 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags Q2_21_expert_review Q2_21_MOI to_be_confirmed_NHSE
Green Green List (high evidence)	FARS2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Spastic paraplegia 77, autosomal recessive, 617046 Combined oxidative phosphorylation deficiency 14, 614946 Tags
Green Green List (high evidence)	FARSA	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 Tags
Green Green List (high evidence)	FAT4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA Tags
Green Green List (high evidence)	FBRSL1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Microcephaly Heart defect Cleft palate Contractures Hearing impairment Skin creases Tags gene-checked
Green Green List (high evidence)	FBXL3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Short stature Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 Intellectual disability Tags
Green Green List (high evidence)	FBXL4	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471 mitochondrial DNA depletion syndrome 13 MONDO:0014198 Tags
Green Green List (high evidence)	FBXO11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 Tags
Green Green List (high evidence)	FBXO31	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Mental retardation, autosomal recessive 45, OMIM:615979 Intellectual disability, autosomal dominant Tags
Green Green List (high evidence)	FBXW11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Abnormality of the eye Abnormality of the head Abnormality of digit Neurodevelopmental, jaw, eye, and digital syndrome MIM#618914 Tags
Green Green List (high evidence)	FGD1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Aarskog-Scott syndrome, 305400Mental retardation, X-linked syndromic 16, 305400 AARSKOG-SCOTT SYNDROME (AAS) Tags
Green Green List (high evidence)	FGF12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 47, 617166 Tags
Green Green List (high evidence)	FH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fumarase deficiency, OMIM:606812 Tags
Green Green List (high evidence)	FIG4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4J, OMIM:611228 Charcot-Marie-Tooth disease type 4J MONDO:0012640 Yunis Varon syndrome OMIM:216340 Yunis-Varon syndrome MONDO:0008995 Tags
Green Green List (high evidence)	FKRP	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5,606612Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 (MDDGC5) Tags
Green Green List (high evidence)	FKTN	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152Cardiomyopathy, dilated, 1X, 611615Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 (MDDGB4) Tags
Green Green List (high evidence)	FLNA	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Heterotopia, periventricular, 1, OMIM:300049 Otopalatodigital syndrome, type II, OMIM:304120 ?FG syndrome 2, OMIM:300321 Tags
Green Green List (high evidence)	FLVCR2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME Tags
Green Green List (high evidence)	FMN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	FMR1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	FMR1_CGG STR	3 reviews	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 NHS GMS Phenotypes Fragile X syndrome, OMIM:300624 Fragile X tremor/ataxia syndrome, OMIM:300623 Tags STR
Green Green List (high evidence)	FOLR1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY Tags
Green Green List (high evidence)	FOXG1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Rett Syndrome, congenital variant OMIM:613454 Rett syndrome, congenital variant MONDO:0013270 Tags
Green Green List (high evidence)	FOXP1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation with language impairment and autistic features, 613670 Mental Retardation with Language Impairment and Autistic Features MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES (MRLIAF) Tags
Green Green List (high evidence)	FOXP2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Speech-Language Disorder 1 SPEECH-LANGUAGE DISORDER 1 Tags
Green Green List (high evidence)	FOXRED1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	FRMPD4	7 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Phenotypes Mental retardation, X-linked 104, 300983 global developmental delay intellectual disability Tags
Green Green List (high evidence)	FTCD	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY (FIGLU-URIA) Tags ngs-false-positive-region
Green Green List (high evidence)	FTSJ1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 9, 309549 MENTAL RETARDATION X-LINKED TYPE 44 (MRX44) Tags
Green Green List (high evidence)	FUCA1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fucosidosis, 230000 FUCOSIDOSIS (FUCA1D) intellectual disability Tags
Green Green List (high evidence)	FUT8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Congenital disorder of glycosylation with defective fucosylation, 618005 Intellectual disability Tags
Green Green List (high evidence)	GABBR2	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Rett syndrome Neurodevelopmental disorder with poor language and loss of hand skills, 617903 Tags missense
Green Green List (high evidence)	GABRA1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes JUVENILE MYOCLONIC EPILEPSY Tags
Green Green List (high evidence)	GABRA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 78, 618557 intellectual disability developmental delay Tags missense
Green Green List (high evidence)	GABRA5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 79, 618559 developmental delay Tags
Green Green List (high evidence)	GABRB2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, infantile or early childhood, 2, 617829 intellectual disability Tags
Green Green List (high evidence)	GABRB3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CHILDHOOD ABSENCE EPILEPSY TYPE 5 Tags
Green Green List (high evidence)	GABRD	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Epilepsy, idiopathic generalized, 10}, OMIM:613060 {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060 Tags
Green Green List (high evidence)	GABRG2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, generalized, with febrile seizures plus, type 3 611277 Febrile seizures, familial, 8 611277 {Epilepsy, childhood absence, susceptibility to, 2} 607681 Tags
Green Green List (high evidence)	GAD1	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes ?Cerebral palsy, spastic quadriplegic, 1 603513 Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele Tags
Green Green List (high evidence)	GALC	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Krabbe disease, OMIM:245200 Tags
Green Green List (high evidence)	GALE	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Galactose epimerase deficiency, 230350 EPIMERASE-DEFICIENCY GALACTOSEMIA (EDG) Tags
Green Green List (high evidence)	GALNT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type IIt 618885 Tags
Green Green List (high evidence)	GALT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Galactosemia, 230400 GALACTOSEMIA (GALCT) Tags
Green Green List (high evidence)	GAMT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 2, 612736 GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY) Tags
Green Green List (high evidence)	GATAD2B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 18, 615074 NONSPECIFIC SEVERE ID Tags
Green Green List (high evidence)	GATM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cerebral creatine deficiency syndrome 3, 612718 ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY (AGAT DEFICIENCY) Tags
Green Green List (high evidence)	GCDH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUTARICACIDEMIA TYPE 1 Tags
Green Green List (high evidence)	GCH1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230Hyperphenylalaninemia, BH4-deficient, B, 233910 DYSTONIA TYPE 5 (DYT5) Tags
Green Green List (high evidence)	GDI1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 41, 300849 MENTAL RETARDATION X-LINKED TYPE 41 (MRX41) Tags
Green Green List (high evidence)	GEMIN5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 Tags
Green Green List (high evidence)	GFAP	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Alexander disease, 203450 ALEXANDER DISEASE Tags
Green Green List (high evidence)	GFER	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 Intellectual disability Tags
Green Green List (high evidence)	GFM1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 Tags
Green Green List (high evidence)	GJC2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 2, OMIM:608804 Tags
Green Green List (high evidence)	GK	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Glycerol kinase deficiency, 307030 GLYCEROL KINASE DEFICIENCY Tags
Green Green List (high evidence)	GLB1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010 MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B) Tags
Green Green List (high evidence)	GLDC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Glycine encephalopathy, 605899 GLDC-RELATED GLYCINE ENCEPHALOPATHY Tags
Green Green List (high evidence)	GLI2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Holoprosencephaly-9, 610829 GLI2-RELATED HOLOPROSENCEPHALY Tags
Green Green List (high evidence)	GLI3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Greig cephalopolysyndactyly syndrome, 175700Pallister-Hall syndrome, 146510Polydactyly, preaxial, type IV, 174700Polydactyly, postaxial, types A1 and B, 174200{Hypothalamic hamartomas, somatic}, 241800 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Tags
Green Green List (high evidence)	GLIS3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 Tags
Green Green List (high evidence)	GLUL	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY (CSGD) Tags
Green Green List (high evidence)	GLYCTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes D-glyceric aciduria 220120 Tags treatable
Green Green List (high evidence)	GM2A	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes GM2-gangliosidosis, AB variant, 272750 GM2-GANGLIOSIDOSIS TYPE AB (GM2GAB) Tags
Green Green List (high evidence)	GMPPA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION Tags
Green Green List (high evidence)	GMPPB	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142 Tags
Green Green List (high evidence)	GNAI1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 Tags gene-checked
Green Green List (high evidence)	GNAO1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Neurodevelopmental disorder with involuntary movements, 617493 Epileptic encephalopathy, early infantile, 17, 615473 Tags
Green Green List (high evidence)	GNAS	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pseudohypoparathyroidism Ia, 103580McCune-Albright syndrome, 174800Pseudohypoparathyroidism Ic, 612462Osseous heteroplasia, progressive, 166350Pseudohypoparathyroidism Ib, 603233Prolonged bleeding time, brachydactyly and mental retardationAcromegaly, 102200Pseudopseudohypoparathyroidism, 612463Prolonged bleeding time, brachydactyly, and mental retardationACTH-independent macronodular adrenal hyperplasia, 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (AIMAH) Tags mosaicism
Green Green List (high evidence)	GNB1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GNB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability Tags
Green Green List (high evidence)	GNB5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182 Tags
Green Green List (high evidence)	GNPAT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2) Tags
Green Green List (high evidence)	GNPTAB	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MUCOLIPIDOSIS TYPE II (MLII) Tags
Green Green List (high evidence)	GNPTG	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C (MLIIIC) Tags
Green Green List (high evidence)	GNS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type IIID, 252940 MUCOPOLYSACCHARIDOSIS TYPE 3D (MPS3D) Tags
Green Green List (high evidence)	GPAA1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 global developmental delay Tags
Green Green List (high evidence)	GPC3	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870Wilms tumor, somatic, 194070 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 Tags
Green Green List (high evidence)	GPC4	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS Phenotypes Keipert syndrome OMIM# 301026 Tags Skewed X-inactivation
Green Green List (high evidence)	GPT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly and spastic paraplegia, OMIM:616281 Tags
Green Green List (high evidence)	GRIA2	9 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epileptic encephalopathy intellectual disability stereotypic hand movements Neurodevelopmental disorder with language impairment and behavioral abnormalities MIM#618917 Tags
Green Green List (high evidence)	GRIA3	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 94, 300699 MENTAL RETARDATION X-LINKED TYPE 94 (MRX94) Tags
Green Green List (high evidence)	GRIA4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 Tags
Green Green List (high evidence)	GRID2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRIK2	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive, 6, OMIM:611092 non-syndromic neurodevelopmental disorder (NDD), autosomal dominant Tags
Green Green List (high evidence)	GRIN1	5 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 Tags
Green Green List (high evidence)	GRIN2A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epilepsy with neurodevelopmental defects, 613971 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS Tags
Green Green List (high evidence)	GRIN2B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, Dominant Mental retardation, autosomal dominant 6, 613970 AUTISM Tags
Green Green List (high evidence)	GRIN2D	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 46, 617162 intellectual disability Tags
Green Green List (high evidence)	GRM1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 13, 614831 CONGENITAL CEREBELLAR ATAXIA Tags
Green Green List (high evidence)	GTF2E2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Trichothiodystrophy 6, nonphotosensitive, OMIM:616943 Tags
Green Green List (high evidence)	GTF2H5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Trichothiodystrophy, complementation group A, 601675 TRICHOTHIODYSTROPHY PHOTOSENSITIVE Tags
Green Green List (high evidence)	GTPBP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Jaberi-Elahi syndrome, 617988 Global developmental delay Intellectual disability Seizures Tags
Green Green List (high evidence)	GTPBP3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY Tags
Green Green List (high evidence)	GUSB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis VII, 253220 MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7) Tags
Green Green List (high evidence)	H3F3A	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay Intellectual disability Neurodegeneration Epilepsy Facial dysmorphism Congenital anomalies Tags new-gene-name
Green Green List (high evidence)	H3F3B	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental delay Intellectual disability Neurodegeneration Epilepsy Facial dysmorphism Congenital anomalies Tags new-gene-name
Green Green List (high evidence)	HACE1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia and psychomotor retardation with or without seizures 616756 Tags
Green Green List (high evidence)	HADHA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Tags
Green Green List (high evidence)	HCCS	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia, syndromic 7, 309801 MICROPHTHALMIA SYNDROMIC TYPE 7 (MCOPS7) Tags
Green Green List (high evidence)	HCFC1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, X-linked 3, 309541 MENTAL RETARDATION, X-LINKED 3 MRX3 Tags
Green Green List (high evidence)	HCN1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 EIEE24 Tags
Green Green List (high evidence)	HDAC4	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Brachydactyly-mental retardation syndrome, 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME (BDMR) Tags
Green Green List (high evidence)	HDAC8	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Wilson-Turner syndrome, 309585Cornelia de Lange syndrome 5, 300882 CORNELIA DE LANGE-LIKE SYNDROME Tags
Green Green List (high evidence)	HECW2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language, OMIM:617268 Tags
Green Green List (high evidence)	HEPACAM	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, OMIM:613926 Tags
Green Green List (high evidence)	HERC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Macrocephaly, dysmorphic facies, and psychomotor retardation 617011 Tags
Green Green List (high evidence)	HERC2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 38, OMIM:615516 Tags
Green Green List (high evidence)	HESX1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Growth hormone deficiency with pituitary anomalies, OMIM:182230 Pituitary hormone deficiency, combined, 5, OMIM:182230 Septooptic dysplasia, OMIM:182230 Tags
Green Green List (high evidence)	HEXA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tay-Sachs disease, 272800 GM2-gangliosidosis, several forms, 272800 GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1) Tags
Green Green List (high evidence)	HEXB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 Tags
Green Green List (high evidence)	HGSNAT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C (MPS3C) Tags
Green Green List (high evidence)	HIBCH	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HIBCH DEFICIENCY Tags
Green Green List (high evidence)	HID1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Tags gene-checked
Green Green List (high evidence)	HIST1H1E	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Rahman syndrome, 617537 mild to severe intellectual disability Tags new-gene-name
Green Green List (high evidence)	HIST1H4C	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Gene2Phenotype Victorian Clinical Genetics Services Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 Tags new-gene-name
Green Green List (high evidence)	HIVEP2	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Mental retardation, autosomal dominant 43, 616977 MRD43 Intellectual disability Tags
Green Green List (high evidence)	HK1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Hemolytic anemia due to hexokinase deficiency, 235700 Neuropathy, hereditary motor and sensory, Russe type, 605285 Abnormal muscle tone Global developmental delay Intellectual disability Visual impairment Neurological speech impairment Ataxia Tags missense
Green Green List (high evidence)	HLCS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holocarboxylase synthetase deficiency, 253270 HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Tags
Green Green List (high evidence)	HMGCL	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HMG-CoA lyase deficiency, 246450 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCLD Intellectual disability Tags
Green Green List (high evidence)	HNMT	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mental retardation, autosomal recessive 51, OMIM:616739 Tags
Green Green List (high evidence)	HNRNPH1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes HNRNPH1‐related syndromic intellectual disability Tags gene-checked
Green Green List (high evidence)	HNRNPH2	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 Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic, Bain type, 300986 MRXSB Tags
Green Green List (high evidence)	HNRNPK	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Au-Kline syndrome, 616580 intellectual disability Tags
Green Green List (high evidence)	HNRNPR	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Postnatal microcephaly Short digit Tags gene-checked
Green Green List (high evidence)	HNRNPU	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 54, 617391 intellectual disability Tags
Green Green List (high evidence)	HOXA1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536 BOSLEY-SALIH-ALORAINY SYNDROME (BSAS) Tags
Green Green List (high evidence)	HPD	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Tyrosinemia, type III, 276710Hawkinsinuria, 140350 HAWKINSINURIA (HAWK) Tags
Green Green List (high evidence)	HPDL	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green Green List (high evidence)	HPRT1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Tags
Green Green List (high evidence)	HRAS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes {Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 COSTELLO SYNDROME Tags
Green Green List (high evidence)	HSD17B10	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes 17-beta-hydroxysteroid dehydrogenase X deficiency, 300438Mental retardation, X-linked syndromic 10, 300220Mental retardation, X-linked 17/31, microduplication, 300705 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY (MHBD DEFICIENCY) Tags
Green Green List (high evidence)	HSD17B4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PERRAULT SYNDROME Tags
Green Green List (high evidence)	HSPD1	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags Q2_22_MOI
Green Green List (high evidence)	HTRA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type VIII 617248 Tags
Green Green List (high evidence)	HUWE1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE (MRXST) Tags
Green Green List (high evidence)	IARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 Tags new-gene-name
Green Green List (high evidence)	IBA57	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330 Tags
Green Green List (high evidence)	IDH2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes D-2-hydroxyglutaric aciduria 2 613657 Tags
Green Green List (high evidence)	IDS	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mucopolysaccharidosis II, 309900 MUCOPOLYSACCHARIDOSIS TYPE 2 (MPS2) Tags
Green Green List (high evidence)	IDUA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis Ih, 607014Mucopolysaccharidosis Is, 607016Mucopolysaccharidosis Ih/s, 607015 MUCOPOLYSACCHARIDOSIS TYPE 1S (MPS1S) Tags
Green Green List (high evidence)	IER3IP1	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly, epilepsy, and diabetes syndrome, 614231 MEDS Intellectual disability Tags
Green Green List (high evidence)	IFIH1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 7, OMIM:615846 Tags
Green Green List (high evidence)	IFT172	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MAINZER-SALDINO SYNDROME Tags
Green Green List (high evidence)	IGF1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY (IGF1 DEFICIENCY) Tags
Green Green List (high evidence)	IGF1R	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Insulin-like growth factor I, resistance to, OMIM:270450 Tags
Green Green List (high evidence)	IKBKG	5 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 Radboud University Medical Center, Nijmegen Phenotypes Incontinentia pigmenti, type II, 308300Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301Immunodeficiency, isolated, 300584{Atypical mycobacteriosis, familial}, 300636Invasive pneumococcal disease, recurrent isolated, 2, 300640 INCONTINENTIA PIGMENTI (IP) Tags
Green Green List (high evidence)	IL1RAPL1	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 21/34, 300143 MENTAL RETARDATION X-LINKED TYPE 21 (MRX21) Tags
Green Green List (high evidence)	IMPDH2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dystonia Tags
Green Green List (high evidence)	INPP5E	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Joubert syndrome 1, 213300 MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS (MORMS) Tags
Green Green List (high evidence)	INPP5K	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment Tags
Green Green List (high evidence)	INTS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, 618571 Hypotonia Global developmental delay Cataract Abnormality of the skeletal system Tags
Green Green List (high evidence)	IQSEC2	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 1, 309530 non-syndromic X-linked intellectual disability Rett like phenotype in males MENTAL RETARDATION X-LINKED TYPE 1 (MRX1) Tags
Green Green List (high evidence)	IRF2BPL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 Tags
Green Green List (high evidence)	IRX5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY Tags
Green Green List (high evidence)	5p15 terminal (Cri du chat syndrome) region Loss ISCA-37390-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 123450 PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay Tags
Green Green List (high evidence)	7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain ISCA-37392-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes intellectual disability 609757 behavior problems abnormal gait and station cardiovascular disease phonologic disorders distinctive facial features neurologic abnormalities speech sound disorders Tags
Green Green List (high evidence)	7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss ISCA-37392-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 194050 Williams syndrome Tags
Green Green List (high evidence)	22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain ISCA-37393-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID 22890013: variable phenotype including developmental delay, ocular coloboma, preauricular tags/pits, cleft palate, skeletal defects, heart defects, urogenital defect, anal defect, hearing loss, clinodactyly of fifth fingers, umbilical hernia, accessory spleen, strabismus, shortening of the fifth finger. PMID 22495764: Inter and intra individual variability of phenotype, mosaic. PMID 11693792: preauricular skin tags and pits, downslanting palpebral fissures, hypertelorism, ectopic anus, hypospadias, and hypoplastic left heart syndrome 115470 Tags
Green Green List (high evidence)	2q37.3 terminal region (includes HDAC4) Loss ISCA-37394-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination 600430 Tags
Green Green List (high evidence)	15q24 recurrent region (A-D) (includes SIN3A) Loss ISCA-37396-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 15q24 deletion syndrome, 613406 PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology developmental delay, severe speech problems PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia Tags
Green Green List (high evidence)	22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain ISCA-37397-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes seizures failure to thrive ADHD heart defects speech disturbances hypernasal speech hearing impariment abnormal behaviour developmental delay hypotonia micro- or macrocephaly Tags
Green Green List (high evidence)	22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss ISCA-37397-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes diaphragmatic hernia mild skeletal abnormalities uterine didelphys 611867 DiGeorge syndrome (DGS) clinodactyly velocardiofacial syndrome ADHD Goldenhar syndrome prematurity developmental delay micropephaly cardiovascular defects Seizures global developmental delay language delay prenatal and postnatal growth delay Hyptonia Tags
Green Green List (high evidence)	16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain ISCA-37400-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 614671 intellectual disability delayed development autism specific deficits in speech or language Tags
Green Green List (high evidence)	16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss ISCA-37400-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes seizures intellectual disability Chiari malformations cerebellar ectopia 611913 mental retardation Macrocephaly developmental delay autism spectrum disorder (ASD) vertebral anomalies Tags
Green Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 194072 Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain ISCA-37404-Gain Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems 608636 delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss ISCA-37404-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities 266900 609583 Tags
Green Green List (high evidence)	16p13.3 region (includes CREBBP) Loss ISCA-37406-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes 610543 Tags
Green Green List (high evidence)	2p15p16.1 region (includes BCL11A) Loss ISCA-37408-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more) 612513 PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect Tags
Green Green List (high evidence)	15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss ISCA-37411-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems 612001 PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia Tags
Green Green List (high evidence)	16p13.11 recurrent region (includes MYH11) Gain ISCA-37415-Gain Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Intellectual disability Developmental delay Autism Aortopathy Tags
Green Green List (high evidence)	16p13.11 recurrent region (includes MYH11) Loss ISCA-37415-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects Tags
Green Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain ISCA-37418-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies 610883 characterized by hypotonia, poor feeding, failure to thrive, developmental delay, mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated Tags
Green Green List (high evidence)	17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss ISCA-37418-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Smith-Magenis syndrome, OMIM:182290 Smith-Magenis syndrome, MONDO:0008434 Tags
Green Green List (high evidence)	17q21.3 recurrent region (includes KANSL1) Loss ISCA-37420-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies 610443 PMID: 25217958 Koolen-De Vries syndrome 610443 Tags
Green Green List (high evidence)	1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain ISCA-37421-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Chromosome 1q21.1 duplication syndrome ncomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis 612475 1q21.1 microduplication syndrome Tags
Green Green List (high evidence)	1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss ISCA-37421-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes dysmorphic features 612474 Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts mild to moderate developmental delay Tags
Green Green List (high evidence)	8p23.1 recurrent region (includes GATA4) Gain ISCA-37423-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele. mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly) congenital heart disease 8p23.1 duplication syndrome Tags
Green Green List (high evidence)	8p23.1 recurrent region (includes GATA4) Loss ISCA-37423-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported. congenital heart defects, microcephaly, psychomotor delay and behavioural problems hyperactivity, craniofacial abnormalities 8p23.1 microdeletion syndrome moderate intellectual disability Tags
Green Green List (high evidence)	10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss ISCA-37424-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes PMID 20345475 macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. PMID: 21248748 developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia PMID: 25217958 none specified PMID: 24550761 age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before, phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable Tags
Green Green List (high evidence)	5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain ISCA-37425-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Microcephaly, short stature and developmental delay short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. Tags
Green Green List (high evidence)	5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss ISCA-37425-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes macrocephaly, overgrowth and advanced bone age colpocephaly Sotos syndrome macrocephaly 117550 rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw Tags
Green Green List (high evidence)	4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37429-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 194190 Wolf-Hirschhorn syndrome Tags
Green Green List (high evidence)	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain ISCA-37430-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 613215 Chromosome 17p13.3 duplication syndrome variable psychomotor delay and dysmorphic features 17q11.2 microduplication syndrome Tags
Green Green List (high evidence)	17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss ISCA-37430-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment Chromosome 17p13.3 duplication syndrome prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw Characteristic facies, pre- and post-natal growth retardation 247200 classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities Miller-Dieker lissencephaly syndrome Tags
Green Green List (high evidence)	17q11.2 recurrent region (includes NF1) Gain ISCA-37431-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism Chromosome 17q11.2 deletion syndrome, 1.4Mb DD/ID, facial dysmorphisms, and seizures Tags
Green Green List (high evidence)	17q11.2 recurrent region (includes NF1) Loss ISCA-37431-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes dysmorphic features, cardiac anomalies and mental retardation 613675 variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME NF1 MICRODELETION SYNDROME Chromosome 17q11.2 deletion syndrome, 1.4Mb Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain ISCA-37432-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia Speech and language delay Seizures (not all) Chromosome 17q12 duplication syndrome 614526 Behavioural difficulties Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes RCAD syndrome utero-vaginal atresia Schizophrenia 614527 delayed development, intellectual disability Renal cysts and diabetes syndrome Autism Spectrum Disorder Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females Chromosome 17q12 deletion syndrome global developmental delay Tags
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain ISCA-37433-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 608363 Chromosome 22q11.2 microduplication syndrome dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement delayed psychomotor development, growth retardation, and/or hypotonia Tags
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss ISCA-37433-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 188400 immune deficiency renal anomalies 22q11.2 deletion syndrome 192430 facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay cleft palate, polydactyly polyhydramnios Velocardiofacial syndrome diaphragmatic hernia DiGeorge syndrome congenital heart disease Learning difficulties Tags
Green Green List (high evidence)	1p36 terminal region (includes GABRD) Loss ISCA-37434-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes posteriorly rotated, low-set, abnormal ears brachycephaly epicanthus heart defects pointed chin deep-set eyes microcephaly hypotonia seizures poor/absent speech central nervous system anomalies large anterior fontanels microbrachycephaly mental retardation growth impairment large, late-closing anterior fontanel flat nose nasal bridge developmental delay hearing impairment distinct dysmorphic features 1p36 deletion syndrome 607872 Tags
Green Green List (high evidence)	Xq28 recurrent region (includes GDI1) Gain ISCA-37439-Gain Region	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Phenotypes 28300815 Chromosome Xq duplication syndrome Tags
Green Green List (high evidence)	2p21 region (includes PREPL and SLC3A1) Loss ISCA-37440-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes mild/moderate mental retardation facial dysmorphism Hypotonia-cystinuria syndrome (HCS) 2p21 deletion syndrome rapid weight gain in late childhood failure to thrive growth hormone deficiency 606407 lactic acidemia respiratory chain complex IV deficiency hyperphagia minor facial dysmorphism severe somatic and developmental delay nephrolithiasis cystinuria neonatal seizures hypotonia Tags
Green Green List (high evidence)	11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss ISCA-37441-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Potocki-Shaffer syndrome multiple exostoses biparietal foramina intellectual disability strabismus minor craniofacial anomalies myopia ophthalmologic anomalies 601224 mental retardation enlarged anterior fontanel genital abnormalities in males parietal foramina developmental delay Tags
Green Green List (high evidence)	3q29 recurrent region (includes DLG1) Loss ISCA-37443-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes . mild to moderate mental retardation, with only slightly dysmorphic facial features that were similar in most patients: long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest wall deformity, and long and tapering fingers were noted in at least 2 of the 6 patients. delayed psychomotor development with mild to moderate mental retardation and/or learning disabilities with speech delay. All had low birth weight, microcephaly, high nasal bridge, and short philtrum, and 3 had clinodactyly of the toes. primary pulmonary hypertension, patent ductus arteriosus (PDA), subvalvular aortic stenosis, and gastroesophageal reflux, and required neonatal intensive care for 57 days after birth due to complications of meconium aspiration. He had mild dysmorphic features, including posteriorly rotated ears, shallow orbits, frontal bossing, prominent nose, long thin lip, and broad face. He also had bilateral sandal gap toes, single palmar creases, and bilateral inguinal hernia. However, he was developmentally normal at age 6 months. delayed psychomotor development with delayed waking and poor motor skills, autism with speech delay, mental retardation, and psychiatric disturbances, including aggression, anxiety, hyperactivity, and bipolar disorder with psychosis in 1. Both had dysmorphic features, including high nasal bridge, asymmetric face, and crowded/dysplastic teeth 1 had micrognathia and epicanthal folds. Both had tapered fingers. 609425 Chromosome 3q29 microdeletion syndrome Tags
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain ISCA-37446-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 608363 intellectual disability and congenital abnormalities,Autism chromosome 22q11.2 microduplication heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal Tags
Green Green List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37446-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells micrognathia clefting Hearing deficits Velocardiofacial syndrome cardiac malformations DiGeorge syndrome Tags
Green Green List (high evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Phenotypes episodes of sudden loss of muscle tone severe intellectual disability exiting behavior short stature eleveated serotonin levels autistic features lip-smacking hypotonia stereotypical hand movements Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Gain Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Other Phenotypes hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636 chromosome 15q11-q13 duplication syndrome autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems Tags
Green Green List (high evidence)	15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes microcephaly Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome 105830 Tags
Green Green List (high evidence)	16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss ISCA-37486-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes developmental delay 613444 obesity Tags
Green Green List (high evidence)	1q43q44 terminal region (includes AKT3) Loss ISCA-37493-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes microcephaly seizures agenesis of the corpus callosum intellectual disability hand and foot anomalies 612337 non-specific craniofacial anomalies hypoplasia psychomotor retardation hypogenesis of the corpus callosum Tags
Green Green List (high evidence)	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain ISCA-37494-Gain Region	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 Phenotypes Chromosome Xq28 duplication syndrome, 300815 X linked intellectual disability (XLID) PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features duplication affects males with a recognizable syndrome, females exhibiting milder phenotypes PMID:21984752 behavioural abnormalities (hyperactivity and aggressiveness), characteristic facial features (high forehead, upper eyelid fullness, broad nasal bridge and thick lower lip) PMID:24357492 Cognitive impairment in male patients Tags
Green Green List (high evidence)	Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss ISCA-37494-Loss Region	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 Phenotypes PMID: 25927380 cognitive impairment, behavioral problems, distinctive facial features deletion results in skewed chromosome X inactivation and no clinical phenotype in females PMID: 21984752 in utero male lethality with deletions Tags
Green Green List (high evidence)	15q25.2 recurrent region (LCR B-C, proximal) Loss ISCA-37500-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes mild to moderate cognitive deficit Diamond-Blackfan anemia intellectual disability 614294 anemia congenital diaphragmatic hernia cryptorchidism in males severe speech and psychomotor delay mental retardation postnatal short stature behavioral problem mild dysmorphic feature developmental delay Tags
Green Green List (high evidence)	17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss ISCA-37501-Loss Region	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 17q23.1-q23.2 deletion syndrome, 613355 PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss Tags
Green Green List (high evidence)	Xp11.22p11.23 recurrent region (includes SHROOM4) Gain ISCA-46290-Gain Region	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources ClinGen Expert Review Green Phenotypes Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep 300801 Tags
Green Green List (high evidence)	15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss ISCA-46295-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes seizures 20236110 mental retardation 22775350 dysmorphic features developmental delay severe epileptic encephalopathy Tags
Green Green List (high evidence)	Xp11.22 region (includes HUWE1) Gain ISCA-46299-Gain Region	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 Phenotypes X linked intellectual disability (XLID) PMID: 26692240 Mild‐profound intellectual disability, speech delay, failure to thrive, hand abnormalities, motor delay, abnormal palate PMID:22840365 Mild intellectual disability PMID:26692240 Region 2 (53,160,114–53,713,154 bp Within Chromosome Xp11.22) Tags
Green Green List (high evidence)	ISPD	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 WALKER WARBURG SYNDROME Tags new-gene-name
Green Green List (high evidence)	ITPA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 35, 616647 Tags
Green Green List (high evidence)	ITPR1	7 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gillespie syndrome 206700 Tags
Green Green List (high evidence)	IVD	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ISOVALERIC ACIDEMIA Tags
Green Green List (high evidence)	JAM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS Tags
Green Green List (high evidence)	JARID2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Neurodevelopmental syndrome Tags gene-checked
Green Green List (high evidence)	KANSL1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Koolen-De Vries syndrome, 610443 Intellectual Disability Syndrome CHROMOSOME 17Q21.31 MICRODELETION SYNDROME Tags
Green Green List (high evidence)	KARS	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Global developmental delay Intellectual disability Seizures ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 Deafness, autosomal recessive 89, 613916 Tags new-gene-name
Green Green List (high evidence)	KAT5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Severe global developmental delay Intellectual disability Seizures Microcephaly Behavioral abnormality Sleep disturbance Morphological abnormality of the central nervous system Short stature Oral cleft Abnormality of the face Tags
Green Green List (high evidence)	KAT6A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 Tags
Green Green List (high evidence)	KAT6B	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes SBBYSS syndrome, 603736Genitopatellar syndrome, 606170 BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE Tags
Green Green List (high evidence)	KAT8	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of vision Feeding difficulties Abnormality of the cardiovascular system Autism Tags missense
Green Green List (high evidence)	KCNA2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY. Tags
Green Green List (high evidence)	KCNB1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 Tags
Green Green List (high evidence)	KCNC1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC 7 Tags
Green Green List (high evidence)	KCND2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes global developmental delay, HP:0001263 Tags gene-checked
Green Green List (high evidence)	KCNH1	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS Tags
Green Green List (high evidence)	KCNJ10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, andElectrolyte Imbalance Syndrome SESAME syndrome, 612780Enlarged vestibular aqueduct, digenic, 600791 SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME) Tags
Green Green List (high evidence)	KCNJ11	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582 FAMILIAL HYPERINSULINISM Tags
Green Green List (high evidence)	KCNJ6	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keppen-Lubinsky syndrome 614098 Tags
Green Green List (high evidence)	KCNK9	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Birk-Barel mental retardation dysmorphism syndrome 612292 Tags
Green Green List (high evidence)	KCNMA1	8 reviews 2 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebellar atrophy, developmental delay, and seizures, OMIM:617643 Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446 Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 Liang-Wang syndrome, OMIM:618729 Liang-Wang syndrome, MONDO:0032886 {Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596 Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827 Tags
Green Green List (high evidence)	KCNN2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability seizures movement disorder Tags
Green Green List (high evidence)	KCNN3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Zimmermann-Laband syndrome 3, OMIM:618658 Tags
Green Green List (high evidence)	KCNQ2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 7, OMIM:613720 Tags
Green Green List (high evidence)	KCNQ3	8 reviews 3 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KCNQ5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Other Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 46, 617601 intellectual disability Tags
Green Green List (high evidence)	KCNT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Tags
Green Green List (high evidence)	KCNT2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes ?Epileptic encephalopathy, early infantile 57, 617771 Tags
Green Green List (high evidence)	KCTD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Epilepsy and global developmental delay Tags gene-checked
Green Green List (high evidence)	KCTD7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 NEURONAL CEROID LIPOFUSCINOSIS Tags
Green Green List (high evidence)	KDM1A	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, 616728 Developmental delay Tags
Green Green List (high evidence)	KDM3B	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Global developmental delay Intellectual disability Short stature Behavioral abnormality Seizures Tags
Green Green List (high evidence)	KDM4B	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Global developmental delay, intellectual disability and neuroanatomical defects Tags
Green Green List (high evidence)	KDM5B	7 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 65, OMIM:618109 Tags
Green Green List (high evidence)	KDM5C	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534 Tags Q3_21_MOI
Green Green List (high evidence)	KDM6A	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 2, 300867 Kabuki syndrome KABUKI SYNDROME 2 KABUK2 Tags
Green Green List (high evidence)	KDM6B	6 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, 618505 Tags
Green Green List (high evidence)	KIAA0586	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Joubert syndrome 23 616490 Tags
Green Green List (high evidence)	KIAA1109	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Brain atrophy, Dandy Walker and Contractures Alkuraya-Kucinskas syndrome,617822 Tags
Green Green List (high evidence)	KIDINS220	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296 Tags
Green Green List (high evidence)	KIF11	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY Tags
Green Green List (high evidence)	KIF14	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM:617914 Microcephaly 20, primary, autosomal recessive, MONDO:0054761 Tags
Green Green List (high evidence)	KIF1A	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes NESCAV syndrome, OMIM:614255 Spastic paraplegia 30, autosomal dominant, OMIM:610357 Tags
Green Green List (high evidence)	KIF1BP	8 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Goldberg-Shprintzen megacolon syndrome, 609460 Tags new-gene-name
Green Green List (high evidence)	KIF21B	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Abnormality of brain morphology Microcephaly Tags gene-checked
Green Green List (high evidence)	KIF2A	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Cortical dysplasia, complex, with other brain malformations 3, 615411 Tags
Green Green List (high evidence)	KIF5A	4 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoclonus, intractable, neonatal, 617235 intellectual disability Tags
Green Green List (high evidence)	KIF5C	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 CDCBM2 Tags
Green Green List (high evidence)	KIF7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hydrolethalus syndrome 2, 614120Acrocallosal syndrome, 200990Joubert syndrome 12, 200990 ACROCALLOSAL SYNDROME Tags
Green Green List (high evidence)	KLF7	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual disability Tags gene-checked
Green Green List (high evidence)	KLHL7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes BOS-like phenotype Tags
Green Green List (high evidence)	KMT2A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wiedemann-Steiner syndrome, OMIM:605130 Tags
Green Green List (high evidence)	KMT2C	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kleefstra syndrome 2, 617768 Tags
Green Green List (high evidence)	KMT2D	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Victorian Clinical Genetics Services Phenotypes Kabuki syndrome 1, OMIM:147920 Tags
Green Green List (high evidence)	KMT2E	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes O'Donnell-Luria-Rodan syndrome, 618512 Global developmental delay Intellectual disability Autism Seizures Abnormality of skull size Tags
Green Green List (high evidence)	KMT5B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 51, 617788 Tags
Green Green List (high evidence)	KNL1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Microcephaly 4, primary, autosomal recessive, OMIM:604321 Microcephaly 4, primary, autosomal recessive, MONDO:0011437 Tags
Green Green List (high evidence)	KPTN	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES Tags
Green Green List (high evidence)	KRAS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Lung cancer, somatic, 211980Bladder cancer, somatic, 109800Pancreatic carcinoma, somatic, 260350Gastric cancer, somatic, 137215Leukemia, acute myelogenousNoonan syndrome 3, 609942Cardiofaciocutaneous syndrome 2, 615278Breast cancer, somatic, 114480SFM syndrome, somatic mosaic, 163200 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME) Tags
Green Green List (high evidence)	L1CAM	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Corpus callosum, partial agenesis of, OMIM:304100 CRASH syndrome, OMIM:303350 MASA syndrome, OMIM:303350 Hydrocephalus due to aqueductal stenosis, OMIM:307000 Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000 Hydrocephalus with Hirschsprung disease, OMIM:307000 Tags
Green Green List (high evidence)	L2HGDH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes L-2-hydroxyglutaric aciduria, 236792 L-2-HYDROXYGLUTARIC ACIDURIA (L2HGA) Tags
Green Green List (high evidence)	LAMA1	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Poretti-Boltshauser syndrome OMIM:615960 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Tags
Green Green List (high evidence)	LAMA2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 CONGENITAL MUSCULAR DYSTROPHY Tags
Green Green List (high evidence)	LAMB1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 5, OMIM:615191 Tags
Green Green List (high evidence)	LAMC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cortical malformations, occipital, 614115 OCCIPITAL CORTICAL MALFORMATIONS Tags
Green Green List (high evidence)	LAMP2	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Danon disease, 300257 DANON DISEASE (DAND) Tags
Green Green List (high evidence)	LARGE1	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Gene2Phenotype Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 Muscle-eye-brain disease MDDGA6 Walker-Warburg syndrome Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 congenital muscular dystrophy-dystroglycanopathy with mental retardation MDDGB6 Intellectual disability Tags
Green Green List (high evidence)	LARP7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Alazami syndrome, 615071 ALAZAMI SYNDROME Tags
Green Green List (high evidence)	LARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags new-gene-name
Green Green List (high evidence)	LIAS	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperglycinemia, lactic acidosis, and seizures, 614462 Tags
Green Green List (high evidence)	LIG4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 LIG4 SYNDROME Tags
Green Green List (high evidence)	LINGO4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability speech disorder Tags gene-checked
Green Green List (high evidence)	LINS1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Mental retardation, autosomal recessive 27, 614340 Tags
Green Green List (high evidence)	LIPT1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lipoyltransferase 1 deficiency, MIM#616299 Tags
Green Green List (high evidence)	LMBRD2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Seizures Abnormality of nervous system morphology Abnormality of the eye Tags gene-checked
Green Green List (high evidence)	LMNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Microcephaly 26, primary, autosomal dominant, OMIM:619179 Tags
Green Green List (high evidence)	LONP1	6 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CODAS syndrome, 600373 Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome Tags
Green Green List (high evidence)	LRP2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, 222448 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	LRPPRC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, French-Canadian type, 220111 LEIGH SYNDROME, FRENCH-CANADIAN TYPE Tags
Green Green List (high evidence)	LSS	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Alopecia Abnormality of the skin Cataract 44, Hypotrichosis 14, 616509, 618275 Microcephaly Seizures Abnormality of the genital system Hypotonia Intellectual disability Global developmental delay Tags
Green Green List (high evidence)	LYRM7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 Tags
Green Green List (high evidence)	LZTR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Noonan syndrome 10 Prenatal hydrops increased nuchal translucency cardiac findings Tags
Green Green List (high evidence)	MAB21L1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Cerebellar hypoplasia Abnormality of the eye Abnormality of the genital system No OMIM number Tags
Green Green List (high evidence)	MAB21L2	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MICROPHTHALMIA, SYNDROMIC 14 MCOPS14 Tags
Green Green List (high evidence)	MACF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual disability Seizures Lissencephaly Brainstem dysplasia Lissencephaly 9 with complex brainstem malformation, 618325 Tags
Green Green List (high evidence)	MADD	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, 619005 DEEAH syndrome, 619004 Tags
Green Green List (high evidence)	MAF	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES Tags
Green Green List (high evidence)	MAGEL2	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PRADER WILLI SYNDROME Tags
Green Green List (high evidence)	MAN1B1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, Recessive Mental retardation, autosomal recessive 15, 614202 AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	MAN2B1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mannosidosis, alpha-, types I and II, 248500 LYSOSOMAL ALPHA-MANNOSIDOSIS (AM) Tags
Green Green List (high evidence)	MANBA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mannosidosis, beta, 248510 LYSOSOMAL BETA-MANNOSIDOSIS (LYSBMAN) Tags
Green Green List (high evidence)	MAOA	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Brunner syndrome, 300615 BRUNNER SYNDROME (BRUNS) Tags
Green Green List (high evidence)	MAP1B	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Periventricular nodular heterotopia 9, 618918 Tags
Green Green List (high evidence)	MAP2K1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardiofaciocutaneous syndrome 3, 615279 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME) Tags
Green Green List (high evidence)	MAP2K2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cardiofaciocutaneous syndrome 4, 615280 CARDIOFACIOCUTANEOUS SYNDROME (CFC SYNDROME) Tags
Green Green List (high evidence)	MAPK1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Behavioral abnormality Growth delay Abnormality of the face Abnormality of the neck Abnormality of the cardiovascular system Abnormality of the skin Tags
Green Green List (high evidence)	MAPK8IP3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 Tags
Green Green List (high evidence)	MAPRE2	5 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734 Tags
Green Green List (high evidence)	MASP1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3MC SYNDROME 1 3MC1 Tags
Green Green List (high evidence)	MAST1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 Tags
Green Green List (high evidence)	MAT1A	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/IIIdeficiency, 250850Methionine adenosyltransferase deficiency, autosomal recessive, 250850 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Tags
Green Green List (high evidence)	MBD5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, Dominant Autosomal Dominant Mental Retardation syndrome type 1 Mental retardation, autosomal dominant 1, 156200 EHMT1-LIKE INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	MBOAT7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Gene2Phenotype Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 57, 617188 Intellectual Disability Accompanied by Epilepsy and Autistic Features Autosomal recessive non-syndromic intellectual disability Tags
Green Green List (high evidence)	MBTPS2	5 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes IFAP syndrome with or without BRESHECK syndrome 308205 IFAP syndrome with or without BRESHECK syndrome,308205 Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia Tags
Green Green List (high evidence)	MCCC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Tags
Green Green List (high evidence)	MCCC2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY Tags
Green Green List (high evidence)	MCM3AP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 Tags
Green Green List (high evidence)	MCOLN1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mucolipidosis IV, 252650 MUCOLIPIDOSIS IV Tags
Green Green List (high evidence)	MCPH1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes genetic heterogeneity Microcephaly 1, primary, autosomal recessive, 251200 MICROCEPHALY PRIMARY TYPE 1 (MCPH1) Tags
Green Green List (high evidence)	MDH2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 51, 617339 Tags
Green Green List (high evidence)	MECP2	4 reviews 4 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Rett syndrome, 312750Mental retardation, X-linked, syndromic 13, 300055Rett syndrome, preserved speech variant, 312750Encephalopathy, neonatal severe, 300673{Autism susceptibility, X-linked 3}, 300496Angelman syndrome, 105830Mental retardation, X-linked syndromic, Lubs type, 300260 RETT SYNDROME (RTT)[ Tags
Green Green List (high evidence)	MED12	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Opitz-Kaveggia syndrome, 305450 Lujan-Fryns syndrome, 309520 Ohdo syndrome, X-linked, 300895 OPITZ-KAVEGGIA SYNDROME (OKS) Tags Skewed X-inactivation
Green Green List (high evidence)	MED13L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	MED17	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY Tags
Green Green List (high evidence)	MED23	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 18, 614249 MRT18 Intellectual disability Tags
Green Green List (high evidence)	MED25	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Basel-Vanagait-Smirin-Yosef syndrome, 616449 BVSYS Syndromic intellectual disability Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Tags founder-effect
Green Green List (high evidence)	MED27	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Axial hypotonia Spasticity Dystonia Cerebellar hypoplasia Cataracts Epilepsy Tags
Green Green List (high evidence)	MEF2C	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 MRSME Chromosome 5q14.3 deletion syndrome, 613443 Tags
Green Green List (high evidence)	MEIS2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Cleft palate, cardiac defects, and mental retardation, OMIM:600987 Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970 Tags
Green Green List (high evidence)	METTL23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal recessive 44, 615942 Tags
Green Green List (high evidence)	METTL5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal recessive 72, 618665 Tags gene-checked
Green Green List (high evidence)	MFF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 Tags
Green Green List (high evidence)	MFSD2A	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486 Tags
Green Green List (high evidence)	MFSD8	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS Tags
Green Green List (high evidence)	MGAT2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIa, 212066 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A (CDG2A) Tags
Green Green List (high evidence)	MICU1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MYOPATHY WITH EXTRAPYRAMIDAL SIGNS Tags
Green Green List (high evidence)	MID1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Opitz GBBB syndrome, type I, 300000 OPITZ G/BBB SYNDROME, X-LINKED Tags
Green Green List (high evidence)	MINPP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia Tags
Green Green List (high evidence)	MKKS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes McKusick-Kaufman syndrome, 236700Bardet-Biedl syndrome 6, 209900 MCKUSICK-KAUFMAN SYNDROME (MKKS) Tags
Green Green List (high evidence)	MKS1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MECKEL SYNDROME TYPE 1 (MKS1) Tags
Green Green List (high evidence)	MLC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS (MLC) Tags
Green Green List (high evidence)	MLYCD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 MALONYL-COA DECARBOXYLASE DEFICIENCY Tags
Green Green List (high evidence)	MMAA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 METHYLMALONIC ACIDURIA TYPE CBLA Tags
Green Green List (high evidence)	MMAB	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE CBLB Tags
Green Green List (high evidence)	MMACHC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE Tags
Green Green List (high evidence)	MMADHC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Homocystinuria, cblD type, variant 1, 277410Methylmalonic aciduria, cblD type, variant 2, 277410Methylmalonic aciduria and homocystinuria, cblD type, 277410 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD (MMADHC) Tags
Green Green List (high evidence)	MN1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes CEBALID syndrome, OMIM:618774 CEBALID syndrome, MONDO:0032908 Tags
Green Green List (high evidence)	MOCS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Molybdenum cofactor deficiency, type A, 252150 MOLYBDENUM COFACTOR DEFICIENCY Tags
Green Green List (high evidence)	MOCS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Molybdenum cofactor deficiency, type B, 252150 MOLYBDENUM COFACTOR DEFICIENCY Tags
Green Green List (high evidence)	MOGS	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIb, 606056 Tags
Green Green List (high evidence)	MORC2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay Intellectual disability Growth retardation Microcephaly Craniofacial dysmorphism Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 Tags
Green Green List (high evidence)	MPDU1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type If, 609180 CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green Green List (high evidence)	MPLKIP	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Trichothiodystrophy, nonphotosensitive 1, 234050 TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 Tags
Green Green List (high evidence)	MPP5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Delayed speech and language development Developmental regression Behavioral abnormality Tags gene-checked new-gene-name
Green Green List (high evidence)	MRPS22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 5, 611719 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 Tags
Green Green List (high evidence)	MRPS34	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidativephosphorylation deficiency 32, 617664 Tags
Green Green List (high evidence)	MSL3	7 reviews 3 green 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Muscular hypotonia Feeding difficulties Neurodevelopmental delay Intellectual disability Basilicata-Akhtar syndrome, 301032 Tags
Green Green List (high evidence)	MSMO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 Tags
Green Green List (high evidence)	MTFMT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 OMIM:614947 combined oxidative phosphorylation defect type 15 MONDO:0013987 Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 Tags
Green Green List (high evidence)	MTHFR	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY (MTHFRD) Tags
Green Green List (high evidence)	MTHFS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green Green List (high evidence)	MTO1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 10, 614702 Tags
Green Green List (high evidence)	MTOR	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Smith-Kingsmore syndrome, 616638 Intellectual Disability Focal cortical dysplasia, type II, somatic 607341 Tags missense mosaicism somatic
Green Green List (high evidence)	MTR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 METHYLCOBALAMIN DEFICIENCY TYPE G (CBLG) Tags
Green Green List (high evidence)	MTRR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE Tags
Green Green List (high evidence)	MUT	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Methylmalonic aciduria, mut(0) type, 251000 METHYLMALONIC ACIDURIA TYPE MUT Tags new-gene-name
Green Green List (high evidence)	MVK	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mevalonic aciduria, OMIM:610377 Tags
Green Green List (high evidence)	MYCN	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Feingold syndrome 1, OMIM:164280 Tags
Green Green List (high evidence)	MYO5A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Griscelli syndrome, type 1, 214450 ELEJALDE SYNDROME (ELEJAS) Tags
Green Green List (high evidence)	MYT1L	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 39, 616521 MRD39 Intellectual disability obesity Tags
Green Green List (high evidence)	NAA10	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes N-terminal acetyltransferase deficiency, 300855 NONPECIFIC SEVERE ID Tags
Green Green List (high evidence)	NAA15	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 50, 617787 Intellectual disability Tags
Green Green List (high evidence)	NACC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 profound developmental delay Tags missense
Green Green List (high evidence)	NAGA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241 KANZAKI DISEASE (KANZD) Tags
Green Green List (high evidence)	NAGLU	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 MUCOPOLYSACCHARIDOSIS TYPE 3B (MPS3B) Tags
Green Green List (high evidence)	NALCN	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM:616266 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, OMIM:615419 Tags
Green Green List (high evidence)	NANS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type 610442 Tags
Green Green List (high evidence)	NARS	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 Tags new-gene-name
Green Green List (high evidence)	NBEA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures No OMIM number Tags
Green Green List (high evidence)	NCDN	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual disability epilepsy Tags
Green Green List (high evidence)	NCKAP1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability Autism Tags gene-checked
Green Green List (high evidence)	NDE1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 4 (with microcephaly), 614019 LISSENCEPHALY 4 (WITH MICROCEPHALY) Tags
Green Green List (high evidence)	NDP	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Norrie disease, 310600Exudative vitreoretinopathy, X-linked, 305390 NORRIE DISEASE Tags
Green Green List (high evidence)	NDST1	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mental retardation, autosomal recessive 46, 616116 MRT46 Intellectual disability Tags
Green Green List (high evidence)	NDUFA1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green Green List (high evidence)	NDUFA2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 13, MIM#618235 Tags
Green Green List (high evidence)	NDUFS1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, 252010 LEIGH SYNDROME (NUCLEAR DNA MUTATION) Tags
Green Green List (high evidence)	NDUFS4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green Green List (high evidence)	NDUFS7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green Green List (high evidence)	NDUFS8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY (NUCLEAR GENES) Tags
Green Green List (high evidence)	NDUFV1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY Tags
Green Green List (high evidence)	NEDD4L	6 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Periventricular nodular heterotopia 7, 617201 Tags
Green Green List (high evidence)	NEMF	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypotonia Global developmental delay Intellectual disability Axonal neuropathy Ataxia Abnormal brain imaging Kyphosis Scoliosis Tremor Respiratory distress Tags
Green Green List (high evidence)	NEU1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sialidosis, type I, 256550Sialidosis, type II, 256550 SIALIDOSIS (SIALIDOSIS) Tags
Green Green List (high evidence)	NEUROD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 72, OMIM:618374 Tags
Green Green List (high evidence)	NEXMIF	6 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 98, 300912 KIAA2022 Tags
Green Green List (high evidence)	NF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Neurofibromatosis, type 1, 162200Leukemia, juvenile myelomonocytic, 607785Melanoma, desmoplastic neurotrophic (2)Neurofibromatosis, familial spinal, 162210Neurofibromatosis-Noonan syndrome, 601321Watson syndrome, 193520 NEUROFIBROMATOSIS-NOONAN SYNDROME (NFNS) Tags
Green Green List (high evidence)	NFASC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction 618356 Tags
Green Green List (high evidence)	NFIA	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Brain malformations with or without urinary tract defects, 613735 BRMUTD Intellectual disability Chromosome 1p32-p31 deletion syndrome, included Tags deletions
Green Green List (high evidence)	NFIX	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SOTOS-LIKE SYNDROME Tags
Green Green List (high evidence)	NFU1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711 Tags
Green Green List (high evidence)	NGLY1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CONGENITAL DISORDER OF DEGLYCOSYLATION CDDG Tags
Green Green List (high evidence)	NHS	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Nance-Horan syndrome, 302350Cataract 40, X-linked, 302200 NANCE-HORAN SYNDROME (NHS) Tags
Green Green List (high evidence)	NIPBL	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 1, 122470 CORNELIA DE LANGE SYNDROME TYPE 1 (CDLS1) Tags
Green Green List (high evidence)	NKAP	5 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Global developmental delay Intellectual disability Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type #301039 Tags missense
Green Green List (high evidence)	NKX2-1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Goiter, familial, due to TTF-1 defect (1)Chorea, hereditary benign, 118700Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 BENIGN HEREDITARY CHOREA Tags
Green Green List (high evidence)	NLGN3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes AUTISM SPECTRUM DISORDERS Tags
Green Green List (high evidence)	NONO	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 BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 34, 300967 MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE MRXSML Macrocephaly-intellectual disability-left ventricular non compaction syndrome Syndromic intellectual disability Tags
Green Green List (high evidence)	NOVA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 618859 Tags
Green Green List (high evidence)	NPC1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes NIEMANN-PICK DISEASE, TYPE C1 Tags
Green Green List (high evidence)	NPC2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes NIEMANN-PICK DISEASE, TYPE C2 Tags
Green Green List (high evidence)	NPHP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583 SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1) Tags
Green Green List (high evidence)	NR2F1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME Tags
Green Green List (high evidence)	NR4A2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Language impairment Intellectual disability Autism Behavioral abnormality No OMIM number Tags Autism Spectrum Disorder gene-checked
Green Green List (high evidence)	NRAS	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Autoimmune lymphoproliferative syndrome type IV, 614470Noonan syndrome 6, 613224Epidermal nevus, somatic, 162900Thyroid carcinoma, follicular, somatic, 188470Colorectal cancer, somatic, 114500 NOONAN SYNDROME TYPE 6 Tags
Green Green List (high evidence)	NRROS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seizures, early-onset, with neurodegeneration and brain calcification 618875 Tags
Green Green List (high evidence)	NRXN1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Pitt-Hopkins-like syndrome 2, 614325{Schizophrenia, susceptibility to, 17}, 614332 AUTISM Tags
Green Green List (high evidence)	NSD1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1, 117550Leukemia, acute myeloid, 601626 (1)Beckwith-Wiedemann syndrome, 130650 WEAVER SYNDROME (WES) Tags
Green Green List (high evidence)	NSD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Intrauterine growth retardation Growth delay Microcephaly Muscular hypotonia Neurodevelopmental delay Intellectual disability No OMIM number Tags
Green Green List (high evidence)	NSDHL	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes CHILD syndrome, 308050CK syndrome, 300831 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (CHILD) Tags
Green Green List (high evidence)	NSUN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, Recessive Mental retardation, autosomal recessive 5, 611091 AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 Tags
Green Green List (high evidence)	NT5C2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spastic paraplegia 45, autosomal recessive, 613162 Intellectual disability Tags
Green Green List (high evidence)	NTNG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, OMIM:618718 Tags gene-checked
Green Green List (high evidence)	NTRK1	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 Tags
Green Green List (high evidence)	NTRK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 58, 617830 Obesity, hyperphagia, and developmental delay, 613886 Tags
Green Green List (high evidence)	NUBPL	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 21, OMIM:618242 Tags
Green Green List (high evidence)	NUDT2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Muscular hypotonia Global developmental delay Intellectual disability Polyneuropathy no OMIM number Tags
Green Green List (high evidence)	NUS1	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 55, with seizures, OMIM:617831 Congenital disorder of glycosylation, type 1aa, OMIM:617082 Tags
Green Green List (high evidence)	OCLN	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pseudo-TORCH syndrome 1, 251290 (includes profound developmental delay) Band-like calcification with simplified gyration and polymicrogyria Tags
Green Green List (high evidence)	OCRL	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Lowe syndrome, 309000Dent disease 2, 300555 LOWE OCULOCEREBRORENAL SYNDROME (OCRL) Tags
Green Green List (high evidence)	ODC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Macrocephaly Alopecia Ectodermal dysplasia Tags
Green Green List (high evidence)	OFD1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Oral-facial-digital syndrome 1, 311200Simpson-Golabi-Behmel syndrome, type 2, 300209Joubert syndrome 10, 300804 ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 (OFD1) Tags
Green Green List (high evidence)	OGT	3 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Mental retardation, X-linked 106, 300997 Tags
Green Green List (high evidence)	OPA3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes 3-methylglutaconic aciduria, type III, 258501 Costeff syndrome Cognitive regression Tags
Green Green List (high evidence)	OPHN1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 MENTAL RETARDATION X-LINKED OPHN1-RELATED (MRXSO) Tags
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 3, 617729 Intellectual disability Tags
Green Green List (high evidence)	OTC	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes CGD Ornithine transcarbamylase deficiency, 311250 ORNITHINE TRANSCARBAMYLASE DEFICIENCY Tags gene-therapy-trial
Green Green List (high evidence)	OTUD5	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 Tags
Green Green List (high evidence)	OTUD6B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 Tags
Green Green List (high evidence)	OTX2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5 (MCOPS5) Tags
Green Green List (high evidence)	OXR1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000 Tags
Green Green List (high evidence)	P4HTM	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Abnormality of the eye Seizures Dysautonomia Central hypotonia Muscular hypotonia Hypoventilation Intellectual disability Sleep apnea Global developmental delay Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia Tags
Green Green List (high evidence)	PACS1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 17, 615009 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PACS2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 66, 618067 Global developmental delay Intellectual disability Seizures Abnormality of the cerebellum Tags
Green Green List (high evidence)	PAFAH1B1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia LISSENCEPHALY TYPE 1 (LIS1) Tags
Green Green List (high evidence)	PAH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Phenylketonuria, 261600[Hyperphenylalaninemia, non-PKU mild], 261600 NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA (NON-PKU HPA) Tags
Green Green List (high evidence)	PAK1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with macrocephaly, seizures, and speech delay, 618158 Tags missense
Green Green List (high evidence)	PAK3	4 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 30/47, 300558 Mental Retardation, X-linked AGENESIS OF THE CORPUS CALLOSUM Tags
Green Green List (high evidence)	PARN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6, OMIM:616353 Tags
Green Green List (high evidence)	PAX6	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700 KERATITIS HEREDITARY (KERH) Tags
Green Green List (high evidence)	PAX8	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 (CHNG2) Tags
Green Green List (high evidence)	PBX1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Tags
Green Green List (high evidence)	PC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pyruvate carboxylase deficiency, 266150 PYRUVATE CARBOXYLASE DEFICIENCY (PC DEFICIENCY) Tags
Green Green List (high evidence)	PCCA	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PROPIONIC ACIDEMIA Tags
Green Green List (high evidence)	PCCB	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PROPIONIC ACIDEMIA Tags
Green Green List (high evidence)	PCDH12	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes intellectual disability microcephaly epilepsy perithalamic hyperechogenicity periventricular hyperechogenicity midbrain abnormalities hypothalamic abnormalities Microcephaly, seizures, spasticity, and brain calcification, 251280 Tags founder-effect
Green Green List (high evidence)	PCDH19	5 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 9, 300088 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 (EIEE9) Tags mosaicism somatic x-linked-over-dominance

Intellectual disability (Version 3.1593)

54 reviewers

2656 Entities

2586 reviewed, 1328 green

3 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

7 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

5 reviews

Sources

Phenotypes

Tags