The latest signed off version for the GMS is v5.0. The current version, shown here, may differ from the signed-off version.

Intellectual disability - microarray and sequencing (Version 5.532)

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, Intellectual disability, R29
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Latest signed off version: v5.0 (22 Mar 2023)
Previously signed off versions: v4.0, v3.2
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 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 and sequencing'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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', 'Childhood onset leukodystrophy' and 'Paediatric disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

Panel Activity

67 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
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
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
Katherine Lachlan (University Hospitals Southampton)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
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
Ronnie Wright (North West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

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
Gavin Ryan (West Midlands Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Julie Evans (South West Genomic Laboratory Hub)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
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
celia duff (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Mike Spiller (Sheffield Children's Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
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
Jana Jezkova (All Wales Medical Genomics Service)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Mafalda Gomes (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Irina Ziravecka (BKUS)

Group: Other
Workplace: Other
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Group: Other NHS organisation
Workplace: Other diagnostic lab
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab

2753 Entities

2685 reviewed, 1427 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 2753 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	9 reviews 4 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual disability and myopathy syndrome, OMIM:619719 intellectual disability and myopathy syndrome, MONDO:0859224 Tags Q1_24_MOI Q1_24_NHS_review
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, OMIM:275630 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)	ACER3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Leukodystrophy, progressive, early childhood-onset, OMIM:617762 Tags
Green Green List (high evidence)	ACO2	5 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Infantile cerebellar-retinal degeneration, OMIM:614559 Infantile cerebellar-retinal degeneration, MONDO:0013802 Tags
Green Green List (high evidence)	ACOX1	4 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, OMIM:264470 Mitchell syndrome, OMIM:618960 Tags watchlist_moi
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	5 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Aicardi-Goutieres syndrome 6, OMIM:615010 Dyschromatosis symmetrica hereditaria, OMIM:127400 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)	ADD1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Seizures Ventriculomegaly Abnormality of the corpus callosum 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 Intellectual developmental disorder, X-linked 109, OMIM:309548 Fragile XE syndrome (FRAXE) Tags nucleotide-repeat-expansion
Green Green List (high evidence)	AFF3	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes KINSSHIP syndrome, OMIM:619297 Tags missense
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 Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292 Tags
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 2, OMIM:615937 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)	ALKBH8	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 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)	ANK3	7 reviews 4 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 37, OMIM:615493 intellectual disability-hypotonia-spasticity-sleep disorder syndrome, MONDO:0014210 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, 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 Pettigrew syndrome, OMIM:304340 Tags
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	5 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	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964 Tags
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, 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 Developmental and epileptic encephalopathy 8, OMIM:300607 Tags
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, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 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, OMIM:608716 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)	ATG7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 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	4 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)	ATP2B1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder, autosomal dominant 66, 619910 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)	ATP6V0A1	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes ATP6V0A1-related developmental disorder (monoallelic) 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	4 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 Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242 Tags
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)	BAP1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Kury-Isidor syndrome, OMIM:619762 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	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bloom syndrome, OMIM:210900 Tags
Green Green List (high evidence)	BLOC1S1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked
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	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Cornelia de Lange syndrome 6, OMIM:620568 Tags
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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 Lipodystrophy, congenital generalized, type 2, OMIM:269700 Tags
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)	BUB1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Microcephaly 30, primary, autosomal recessive, OMIM:620183 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	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 66, OMIM:618221 Tags new-gene-name
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)	C2orf69	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
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	6 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Developemental and epileptic encephalopathy 42, OMIM:617106 developmental and epileptic encephalopathy, 42, MONDO:0014917 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 Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 CACNA1C-related disorder 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	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114 Tags
Green Green List (high evidence)	CACNA2D1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Abnormal muscle tone Feeding difficulties Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of the corpus callosum Cerebral atrophy Abnormality of movement Cortical visual impairment Pain insensitivity Tags
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)	CAPRIN1	8 reviews 3 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 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 Intellectual developmental disorder, autosomal recessive 3, OMIM:608443 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 1, OMIM:235510 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)	CCDC32	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Cardiofacioneurodevelopmental syndrome, OMIM:619123 cardiofacioneurodevelopmental syndrome, MONDO:0030873 Tags gene-checked
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)	CCDC82	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 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)	CELF2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental and epileptic encephalopathy 97, OMIM:619561 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 Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features, OMIM:616579 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 Parenti-Mignot neurodevelopmental syndrome, OMIM:610771 Intellectual disability, MONDO:0001071 Epilepsy, MONDO:0005027 Tags
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)	CHKA	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Abnormal muscle tone Global developmental delay Intellectual disability Seizures Microcephaly Abnormality of movement Abnormality of nervous system morphology Short stature 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 Raynaud-Claes syndrome, OMIM:300114 Tags
Green Green List (high evidence)	CLDN5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes intellectual disability, MONDO:0001071 Tags gene-checked
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 VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 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	3 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 developmental disorder, X-linked, syndromic, Houge type, OMIM:301008 intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909 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, OMIM:616418 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 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, OMIM:615643 neurodegeneration with brain iron accumulation 6, MONDO:0014290 Pontocerebellar hypoplasia, type 12, OMIM:618266 pontocerebellar hypoplasia, type 12, MONDO:0032643 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	7 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type III, 613612 COG5-CDG CDG-III Tags
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 developmental disorder, autosomal dominant 34, OMIM:616351 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 Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 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 Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 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)	CPLX1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 63, OMIM:617976 developmental and epileptic encephalopathy, 63, MONDO:0033372 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 Neurodevelopmental disorder with spastic diplegia and visual defects, OMIM:615075 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)	CTR9	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Macrocephaly, HP:0000256 Motor delay, HP:0001270 intellectual disability, MONDO:0001071 Delayed speech and language development Behavioral abnormality Autistic behavior Failure to thrive Feeding difficulties Abnormality of the cardiovascular system Tags gene-checked
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)	CUL3	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with or without autism or seizures, OMIM:619239 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
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, OMIM:611105 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, OMIM:300067 Subcortical laminal heterotopia, X-linked, OMIM:300067 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)	DDX23	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay with speech and behavioral abnormalities, MONDO:0030995 Tags gene-checked
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 developmental disorder, X-linked syndromic, Snijders Blok type, OMIM: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 ?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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags
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	4 reviews 4 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 Q1_24_MOI Q1_24_NHS_review
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)	DOHH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 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)	DPH5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 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	3 reviews 1 green 1 red	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 Q4_23_demote_red Q4_23_expert_review Q4_23_NHS_review
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)	DTYMK	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Microcephaly Seizures Global brain atrophy Cardiorespiratory arrest 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)	EDEM3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Congenital disorder of glycosylation, type 2V, OMIM:619493 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	6 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM: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)	ENTPD1	6 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Spastic paraplegia 64, autosomal recessive, OMIM:615683 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 acidemia IIA, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Green Green List (high evidence)	ETFB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidemia IIB, OMIM:231680 multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 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	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes KENNY-CAFFEY SYNDROME (KCS [MIM 127000]) Tags Q4_23_demote_red Q4_23_expert_review Q4_23_NHS_review
Green Green List (high evidence)	FAM126A	4 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 new-gene-name
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 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)	FBXO28	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 developmental and epileptic encephalopathy 100, MONDO:0030695 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 Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914 neurodevelopmental, jaw, eye, and digital syndrome, MONDO:003005 Tags
Green Green List (high evidence)	FBXW7	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental delay, hypotonia, and impaired language, OMIM:620012 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)	FILIP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes intellectual disability, MONDO:0001071 Tags gene-checked
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)	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	5 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 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, nuclear type 19, OMIM:618241 mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624 Tags
Green Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 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, OMIM:612718 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)	GCSH	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423 Glycine encephalopathy Transient neonatal hyperglycinemia 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	4 reviews 3 green 1 red	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)	GLRA2	5 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 NHS GMS Phenotypes Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076 intellectual developmental disorder, X-linked, syndromic, Pilorge type, MONDO:0024772 Tags Autism Spectrum Disorder
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
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	5 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, OMIM:103580 pseudohypoparathyroidism type 1A, MONDO:0007078 Pseudohypoparathyroidism Ic, OMIM:612462 pseudohypoparathyroidism type 1C, MONDO:0012911 Pseudopseudohypoparathyroidism, OMIM:612463 pseudopseudohypoparathyroidism, MONDO:0012912 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 Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503 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)	GRIA1	7 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Intellectual developmental disorder, autosomal dominant 67, OMIM:619927 ?Intellectual developmental disorder, autosomal recessive 76, OMIM:619931 Tags watchlist_moi
Green Green List (high evidence)	GRIA2	9 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917 neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060 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 Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970 Developmental and epileptic encephalopathy 27, OMIM:616139 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, OMIM:614831 Tags
Green Green List (high evidence)	GRM7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 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)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Tags gene-checked
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	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic infantile encephalopathy Hypopituitarism Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 Tags
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)	HIST1H4E	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 3, OMIM:619950 Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:0030993 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	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 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)	HMGB1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental delay and microcephaly Tags gene-checked
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	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes HNRNPH1‐related syndromic intellectual disability Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, OMIM:620083 Tags
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	3 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 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 Tags
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	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 HSD10 mitochondrial disease, OMIM:300438 Tags Q1_24_MOI
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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags
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	5 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 NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic, Turner type, OMIM:309590 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, OMIM:308300 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, OMIM:618571 Tags
Green Green List (high evidence)	INTS11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 Tags
Green Green List (high evidence)	IQSEC2	5 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 Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 1, OMIM:309530 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	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes Dysmorphic features, moderate to severe intellectual disability, microcephaly and renal anomalies 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 Koolen-De Vries syndrome, OMIM:610443 Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature 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 1 green	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 1 green	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 Wolf-Hirschhorn syndrome, OMIM:194190 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)	2q11.2 recurrent region (includes ARID5A, TMEM127) Loss ISCA-37495-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green 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)	16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46297-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green 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)	Xq28 region (includes MECP2) Gain ISCA-46304-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	3q24 Region (includes ZIC1) Loss ISCA-46553-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	7p22.1 region (includes ACTB) Loss ISCA-46742-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green 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	9 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, OMIM:206700 Spinocerebellar ataxia 15, OMIM:606658 Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360 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	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability Neurodevelopmental syndrome Developmental delay with variable intellectual disability and dysmorphic facies, OMIM:620098 Tags
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 Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 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)	KCNK3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental disorder with sleep apnea 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)	KDM2B	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
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 Diets-Jongmans syndrome, OMIM:618846 Diets-Jongmans syndrome, MONDO:0030012 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)	KDM5A	7 reviews 2 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes autism spectrum disorder, MONDO:0005258 intellectual disability, MONDO:0001071 Tags gene-checked
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, 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 Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534 Tags
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, OMIM:300867 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, OMIM:618505 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790 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 new-gene-name
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)	KIF4A	6 reviews 3 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes ?Intellectual developmental disorder, X-linked 100, OMIM:300923 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)	KLHL20	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder 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 Intellectual developmental disorder, autosomal recessive 41, OMIM:615637 macrocephaly-developmental delay syndrome, MONDO:0014289 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)	LHX2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags gene-checked
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 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DEEAH syndrome, OMIM:619004 deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562 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)	MAN2C1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Congenital disorder of deglycosylation 2, OMIM:619775 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 Microcephaly 1, primary, autosomal recessive, OMIM:251200 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)	MED11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 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)	MED13	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Delayed speech and language development Motor delay Intellectual disability Autistic behavior Attention deficit hyperactivity disorder Abnormality of the eye Constipation Tags
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 Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789 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)	MTSS1L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086 Tags new-gene-name
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	5 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)	NAPB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 107, OMIM:620033 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, nuclear type 5, OMIM:618226 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, OMIM:618356 neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269 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 Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 Tags Autism Spectrum Disorder
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)	NRCAM	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with neuromuscular and skeletal abnormalities, OMIM:619833 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, OMIM:614325 (AR) Complex neurodevelopmental disorder (AD) 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 Rauch-Steindl syndrome, OMIM:619695 Rauch-Steindl syndrome, MONDO:0859219 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)	NSRP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly 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)	NUP214	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes developmental delay intellectual disability epileptic encephalopathy developmental regression microcephaly {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426 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)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 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)	OTUD7A	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 intellectual disability, MONDO:0001071 Tags gene-checked
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 Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432 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)	PAN2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Sensorineural hearing impairment Abnormality of the genitourinary system Abnormality of the cardiovascular system Abnormality of blood and blood-forming tissues EEG abnormality Seizures Anorectal anomaly Abnormality of the skeletal system Abnormality of the eye Abnormality of head or neck Tags gene-checked
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)	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, OMIM:266150 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
Green Green List (high evidence)	PCDHGC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 Tags
Green Green List (high evidence)	PCGF2	5 reviews 4 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Intellectual disability dysmorphic features Global developmental delay Abnormality of the cardiovascular system Abnormality of the cerebrum Abnormality of the skeletal system Tags
Green Green List (high evidence)	PCNT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 -3 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II Tags
Green Green List (high evidence)	PCYT2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 82, autosomal recessive, 618770 Global developmental delay Developmental regression Intellectual disability Spastic paraparesis Seizures Spastic tetraparesis Cerebral atrophy Cerebellar atrophy Tags
Green Green List (high evidence)	PDE4D	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 Acrodysostosis 2, with or without hormone resistance, 614613 Acrodysostosis Orphanet:950 Tags
Green Green List (high evidence)	PDGFRB	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Kosaki overgrowth syndrome, 616592 Intellectual disability Tags
Green Green List (high evidence)	PDHA1	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 Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170Leigh syndrome, X-linked, 308930 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES Tags
Green Green List (high evidence)	PDHB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 Tags
Green Green List (high evidence)	PDHX	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Lacticacidemia due to PDX1 deficiency, OMIM:245349 Tags deletions
Green Green List (high evidence)	PDSS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 COENZYME Q10 DEFICIENCY, PRIMARY, 2 Tags
Green Green List (high evidence)	PDSS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 COENZYME Q10 DEFICIENCY, PRIMARY, 3 Tags
Green Green List (high evidence)	PDZD8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Autistic behavior Behavioral abnormality Myopathy Abnormality of the face Hypertelorism Seizures Disproportionate tall stature Tags
Green Green List (high evidence)	PEPD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Prolidase deficiency, 170100 PROLIDASE DEFICIENCY (PD) Tags
Green Green List (high evidence)	PET100	7 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability Complex IV-deficient Leigh syndrome Mitochondrial complex IV deficiency, nuclear type 12 OMIM:619055 Tags
Green Green List (high evidence)	PEX1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 (PBD-CG1) Tags
Green Green List (high evidence)	PEX10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870Peroxisome biogenesis disorder 6B, 614871 ADRENOLEUKODYSTROPHY NEONATAL (NALD) Tags
Green Green List (high evidence)	PEX11B	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 14B, 614920 Intellectual disability Tags
Green Green List (high evidence)	PEX12	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859Peroxisome biogenesis disorder 3B, 266510 ZELLWEGER SYNDROME (ZWS) Tags
Green Green List (high evidence)	PEX13	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883Peroxisome biogenesis disorder 11B, 614885 ADRENOLEUKODYSTROPHY NEONATAL (NALD) Tags
Green Green List (high evidence)	PEX14	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ZELLWEGER SYNDROME (ZWS) Tags
Green Green List (high evidence)	PEX16	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876Peroxisome biogenesis disorder 8B, 614877 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 (PBD-CG9) Tags
Green Green List (high evidence)	PEX19	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 ZELLWEGER SYNDROME (ZWS) Tags
Green Green List (high evidence)	PEX2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866Peroxisome biogenesis disorder 5B, 614867 ZELLWEGER SYNDROME (ZWS) Tags
Green Green List (high evidence)	PEX26	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872Peroxisome biogenesis disorder 7B, 614873 INFANTILE REFSUM DISEASE (IRD) Tags
Green Green List (high evidence)	PEX3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 10A (Zellweger), 614882 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 (PBD-CG12) Tags
Green Green List (high evidence)	PEX5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110Peroxisome biogenesis disorder 2B, 202370 ADRENOLEUKODYSTROPHY NEONATAL (NALD) Tags
Green Green List (high evidence)	PEX6	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862 Peroxisome biogenesis disorder 4B, OMIM:614863 Tags
Green Green List (high evidence)	PEX7	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100 Peroxisome biogenesis disorder 9B, 614879 REFSUM DISEASE (RD) Tags
Green Green List (high evidence)	PGAP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Mental retardation, autosomal recessive 42, 615802 Tags
Green Green List (high evidence)	PGAP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PGAP3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 Tags
Green Green List (high evidence)	PGK1	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 Phosphoglycerate kinase 1 deficiency, 300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY (PGK1D) Tags
Green Green List (high evidence)	PGM2L1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 Tags
Green Green List (high evidence)	PGM3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23, 615816 Intellectual disability Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination Tags
Green Green List (high evidence)	PHACTR1	5 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Developmental and epileptic encephalopathy 70, OMIM:618298 Tags
Green Green List (high evidence)	PHF21A	8 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Potocki-Shaffer syndrome, 601224 PSS Intellectual disability Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, 618725 Tags deletions
Green Green List (high evidence)	PHF6	7 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 NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Borjeson-Forssman-Lehmann syndrome, OMIM:301900 Tags
Green Green List (high evidence)	PHF8	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 syndrome, X-linked, Siderius type, 300263 MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE (MRXSSD) Tags
Green Green List (high evidence)	PHGDH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Phosphoglycerate dehydrogenase deficiency, 601815 NEU-LAXOVA SYNDROME NLS Tags
Green Green List (high evidence)	PHIP	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY Developmental delay, intellectual disability, obesity, and dysmorphic features, 617991 Tags
Green Green List (high evidence)	PI4KA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 Tags
Green Green List (high evidence)	PIBF1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome 33 OMIM #617767 Tags
Green Green List (high evidence)	PIDD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Phenotypes Global developmental delay Intellectual disability Seizures Autism Behavioral abnormality Psychosis Pachygyria Lissencephaly Abnormality of the corpus callosum Tags
Green Green List (high evidence)	PIGA	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 MCAHS2 Tags Skewed X-inactivation
Green Green List (high evidence)	PIGB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 80, OMIM:618580 Tags
Green Green List (high evidence)	PIGC	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816 Tags
Green Green List (high evidence)	PIGG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes MRT53 Mental retardation, autosomal recessive 53, 616917 # 616917 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 Tags
Green Green List (high evidence)	PIGH	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycosylphosphatidylinositol biosynthesis defect, 17 OMIM:618010 Hypotonia, moderate developmental delay, and autism, two episodes of febrile seizures Tags Autism Spectrum Disorder
Green Green List (high evidence)	PIGK	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 Tags
Green Green List (high evidence)	PIGL	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Victorian Clinical Genetics Services Phenotypes Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome ZUNICH NEUROECTODERMAL SYNDROME Tags
Green Green List (high evidence)	PIGN	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Tags
Green Green List (high evidence)	PIGO	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 Hyperphosphatasia with Mental Retardation Syndrome HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 HPMRS2 Tags
Green Green List (high evidence)	PIGP	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 55, OMIM:617599 Tags
Green Green List (high evidence)	PIGQ	5 reviews 2 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 Tags
Green Green List (high evidence)	PIGS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Glycosylphosphatidylinositol biosynthesis defect 18 618143 Tags
Green Green List (high evidence)	PIGT	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398 Tags
Green Green List (high evidence)	PIGU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 Tags missense
Green Green List (high evidence)	PIGV	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 Hyperphosphatasia with Mental Retardation Syndrome HYPERPHOSPHATASIA WITH MENTAL RETARDATION (HPMR) Tags
Green Green List (high evidence)	PIGW	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 Tags
Green Green List (high evidence)	PIK3CA	5 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 Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 Megalencephaly-capillary malformation-polymicrogyria syndrome, Orphanet:60040 Tags mosaicism somatic
Green Green List (high evidence)	PIK3R2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 Tags
Green Green List (high evidence)	PITRM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 Tags gene-checked
Green Green List (high evidence)	PLA2G6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Infantile neuroaxonal dystrophy 1, 256600Neurodegeneration with brain iron accumulation 2B, 610217Parkinson disease 14, 612953 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B Tags
Green Green List (high evidence)	PLAA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 NDMSBA Epileptic Encephalopathy Tags
Green Green List (high evidence)	PLCB1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 12, 613722 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Tags
Green Green List (high evidence)	PLK1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Epilepsy microcephaly intellectual disability Tags gene-checked
Green Green List (high evidence)	PLK4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY Tags
Green Green List (high evidence)	PLP1	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 Pelizaeus-Merzbacher disease, 312080Spastic paraplegia 2, X-linked, 312920 LEUKODYSTROPHY HYPOMYELINATING TYPE 1 (HLD1) Tags
Green Green List (high evidence)	PLPBP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 Tags
Green Green List (high evidence)	PLXNA1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Dworschak-Punetha neurodevelopmental syndrome, OMIM:619955 developmental and epileptic encephalopathy, MONDO:0100062 Tags
Green Green List (high evidence)	PMM2	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 Ia, 212065 CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green Green List (high evidence)	PMPCB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954 multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 Tags
Green Green List (high evidence)	PNKP	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 10, 613402 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 Tags
Green Green List (high evidence)	PNPLA6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Boucher-Neuhauser syndrome, 215470 Oliver-McFarlane syndrome, 275400 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Tags
Green Green List (high evidence)	PNPT1	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 13, OMIM:614932 Combined oxidative phosphorylation defect type 13, MONDO:0013977 Tags
Green Green List (high evidence)	POGZ	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes White-Sutton syndrome, OMIM:616364 Tags
Green Green List (high evidence)	POLA1	5 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 XLPDR X-Linked Intellectual Disability associated with short stature, microcephaly, and hypogonadism Tags
Green Green List (high evidence)	POLG	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) Tags
Green Green List (high evidence)	POLR1C	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 11, OMIM:616494 Tags
Green Green List (high evidence)	POLR2A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 Global developmental delay Generalized hypotonia Feeding difficulties Tags
Green Green List (high evidence)	POLR3A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropichypogonadism, 607694 LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM Tags
Green Green List (high evidence)	POLR3B	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381 POLR3B-related neurodevelopmental disorder Ataxia, spasticity, and demyelinating neuropathy Tags
Green Green List (high evidence)	POLRMT	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 55, OMIM:619743 Tags
Green Green List (high evidence)	POMGNT1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 (MDDGB3) Tags
Green Green List (high evidence)	POMGNT2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Tags
Green Green List (high evidence)	POMT1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 (MDDGA1) Tags
Green Green List (high evidence)	POMT2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Victorian Clinical Genetics Services Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 (MDDGB2) Tags
Green Green List (high evidence)	PORCN	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 Focal dermal hypoplasia, 305600 FOCAL DERMAL HYPOPLASIA (FODH) Tags
Green Green List (high evidence)	POU3F2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental delay with hyperphagic obesity Tags gene-checked
Green Green List (high evidence)	POU3F3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Snijders Blok-Fisher syndrome, 618604 Generalized hypotonia Delayed speech and language development Global developmental delay Intellectual disability Autistic behavior Tags
Green Green List (high evidence)	PPFIBP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags
Green Green List (high evidence)	PPIL1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags
Green Green List (high evidence)	PPM1D	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 IDDGIP Tags
Green Green List (high evidence)	PPP1CB	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506 Tags
Green Green List (high evidence)	PPP1R12A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Genitourinary and/or/brain malformation syndrome, 618820 Tags
Green Green List (high evidence)	PPP1R15B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 Tags
Green Green List (high evidence)	PPP1R21	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, OMIM:619383 Tags gene-checked
Green Green List (high evidence)	PPP2CA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Abnormality of nervous system morphology Seizures Language impairment Muscular hypotonia Feeding difficulties Intellectual disability Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 Global developmental delay Tags
Green Green List (high evidence)	PPP2R1A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PPP2R5D	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)	PPP3CA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, infantile or early childhood, 1, 617711 Tags
Green Green List (high evidence)	PPT1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 (CLN1) Tags
Green Green List (high evidence)	PQBP1	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 Renpenning syndrome, 309500 RENPENNING S(YNDROME 1 (RENS1) Tags
Green Green List (high evidence)	PRDM13	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes congenital hypogonadotropic hypogonadism, MONDO:0015770 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, OMIM:619761 Tags
Green Green List (high evidence)	PRICKLE2	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodevelopmental disorder global developmental delay Tags gene-checked
Green Green List (high evidence)	PRKAR1B	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Marbach-Schaaf neurodevelopmental syndrome, OMIM:619680 Tags
Green Green List (high evidence)	PRMT7	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 Tags
Green Green List (high evidence)	PRPF8	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes PRPF8-related developmental disorder (monoallelic) Retinitis pigmentosa 13, OMIM:600059 Tags
Green Green List (high evidence)	PRPS1	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 Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 Arts syndrome, 301835 Deafness, X-linked 1, 304500 CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 (CMTX5) Gout, PRPS-related, 300661 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Tags
Green Green List (high evidence)	PRR12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay, Intellectual disability, Abnormality of the iris, Abnormality of vision, Behavioral abnormality Abnormality of the iris Behavioral abnormality Intellectual disability Global developmental delay Abnormality of vision Tags
Green Green List (high evidence)	PRSS12	5 reviews 4 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, autosomal recessive 1, 249500 Mental Retardation, Recessive MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 (MRT1) Tags
Green Green List (high evidence)	PRUNE1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490 NMIHBA Complex neurological syndrome Tags
Green Green List (high evidence)	PSAP	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900Gaucher disease, atypical, 610539Combined SAP deficiency, 611721Krabbe disease, atypical, 611722 ATYPICAL KRABBE DISEASE Tags
Green Green List (high evidence)	PSMD12	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 Stankiewicz-Isidor syndrome, 617516 Syndromic Neurodevelopmental Disorder Tags
Green Green List (high evidence)	PSPH	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PHOSPHOSERINE PHOSPHATASE DEFICIENCY Tags
Green Green List (high evidence)	PTCH1	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 7, OMIM:610828 Tags
Green Green List (high evidence)	PTCHD1	3 reviews 3 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes AUTISM/ID Tags
Green Green List (high evidence)	PTDSS1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Tags
Green Green List (high evidence)	PTEN	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cowden syndrome 1, 158350Lhermitte-Duclos syndrome, 158350Bannayan-Riley-Ruvalcaba syndrome, 153480{Meningioma}, 607174{Glioma susceptibility 2}, 613028Macrocephaly/autism syndrome, 605309PTEN hamartoma tumor syndromeVATER association with macrocephaly and ventriculomegaly, 276950{Prostate cancer, somatic}, 176807Thyroid carcinoma, follicular, somatic, 188470Malignant melanoma, somatic, 155600Endometrial carcinoma, somatic, 608089Squamous cell carcinoma, head and neck, somatic, 275355 PROTEUS SYNDROME Tags
Green Green List (high evidence)	PTF1A	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS Tags
Green Green List (high evidence)	PTPN11	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250 LEOPARD SYNDROME TYPE 1 Tags
Green Green List (high evidence)	PTPN23	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Developmental epileptic encephalopathy with hypomyelination and brain Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 atrophy Intellectual disability Severe developmental delay, Tags
Green Green List (high evidence)	PTPN4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Tags gene-checked
Green Green List (high evidence)	PTRHD1	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities, OMIM:620747 Tags
Green Green List (high evidence)	PTS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY Tags
Green Green List (high evidence)	PUF60	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Syndromic intellectual disability Verheij syndrome, 615583 VRJS Chromosome 8q24.3 deletion syndrome PUF60 syndrome Intellectual disability Tags microdeletion
Green Green List (high evidence)	PUM1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia 47 617931 Tags
Green Green List (high evidence)	PURA	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)	PUS1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 Mitochondrial myopathy and sideroblastic anemia 1 MLASA Intellectual disability Tags
Green Green List (high evidence)	PUS3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Global developmental delay Microcephaly Mental retardation, autosomal recessive 55, 617051 Intellectual disability Tags
Green Green List (high evidence)	PUS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 Short stature Microcephaly Intellectual disability Behavioral abnormality Tags
Green Green List (high evidence)	PYCR1	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cutis laxa, autosomal recessive, type IIB, 612940 ARCL2B Intellectual disability Tags
Green Green List (high evidence)	PYCR2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 10, 616420 intellectual disability Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume Tags
Green Green List (high evidence)	QARS	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 Intellectual disability Tags new-gene-name
Green Green List (high evidence)	QDPR	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes BH4-DEFICIENT HYPERPHENYLALANINEMIA C Tags
Green Green List (high evidence)	QRICH1	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 Ververi-Brady syndrome, 617982 Intellectual disability Tags
Green Green List (high evidence)	RAB11A	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Global developmental delay, HP:0001263 Intellectual disability, HP:0001249 Tags gene-checked
Green Green List (high evidence)	RAB11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 Tags
Green Green List (high evidence)	RAB18	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Warburg micro syndrome 3, 614222 WARBURG MICRO SYNDROME TYPE 3 Tags
Green Green List (high evidence)	RAB23	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ACROCEPHALOPOLYSYNDACTYLY TYPE 2 Tags
Green Green List (high evidence)	RAB39B	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 Intellectual developmental disorder, X-linked 72, OMIM:300271 Waisman syndrome, OMIM:311510 Tags
Green Green List (high evidence)	RAB3GAP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Warburg micro syndrome 1, 600118 WARBURG MICRO SYNDROME TYPE 1 Tags
Green Green List (high evidence)	RAB3GAP2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Martsolf syndrome 1, OMIM:212720 Warburg micro syndrome 2, OMIM:614225 Tags
Green Green List (high evidence)	RAC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes intellectual disability developmental delay Tags
Green Green List (high evidence)	RAC3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 Tags
Green Green List (high evidence)	RAD21	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 4, OMIM:614701 Tags
Green Green List (high evidence)	RAF1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554 NOONAN SYNDROME 5 Tags
Green Green List (high evidence)	RAI1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Immunodeficiency 9, 612782 SMITH-MAGENIS SYNDROME (SMS) Tags
Green Green List (high evidence)	RALA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Global developmental delay Seizures Abnormality of nervous system morphology Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology Intellectual disability Tags
Green Green List (high evidence)	RALGAPA1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 Tags
Green Green List (high evidence)	RARB	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 12, OMIM:615524 neurodevelopmental disorder, MONDO:0700092 Tags
Green Green List (high evidence)	RARS	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 9, OMIM:616140 Tags new-gene-name
Green Green List (high evidence)	RARS2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia, type 6, 611523 PONTOCEREBELLAR HYPOPLASIA TYPE 6 Tags
Green Green List (high evidence)	RBBP8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Jawad syndrome, 251255 Microcephaly with mental retardation and digital anomalies Seckel syndrome, 24389050 growth retardation, microcephaly with mental retardation, and a characteristic facial appearance Tags
Green Green List (high evidence)	RBM10	2 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 TARP syndrome, 311900 TARP SYNDROME Tags
Green Green List (high evidence)	RBSN	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes intellectual disability, MONDO:0001071 Tags gene-checked
Green Green List (high evidence)	RELN	5 reviews 5 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Lissencephaly 2 (Norman-Roberts type), OMIM:257320 neurodevelopmental disorder, MONDO:0700092 Tags Q4_23_MOI
Green Green List (high evidence)	RERE	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 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 616975 Tags
Green Green List (high evidence)	RFT1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type In, 612015 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N Tags
Green Green List (high evidence)	RFX3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Autism spectrum disorder, MONDO:0005258 Attention deficit-hyperactivity disorder, MONDO:0007743 Tags gene-checked
Green Green List (high evidence)	RFX4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual disability, MONDO:0001071 Autism spectrum disorder, MONDO:0005258 Tags gene-checked
Green Green List (high evidence)	RFX7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, OMIM:620330 Tags
Green Green List (high evidence)	RHOBTB2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 64, 618004 Global developmental delay Intellectual disability Seizures Postnatal microcephaly Tags
Green Green List (high evidence)	RIT1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome 8, 615355 NOONAN SYNDROME 8 Tags
Green Green List (high evidence)	RLIM	4 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked 61, 300978 Intellectual disability Tags missense
Green Green List (high evidence)	RMND1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Combined oxidative phosphorylation deficiency 11, 614922 ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT Tags
Green Green List (high evidence)	RNASEH2A	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 4, 610333 AICARDI-GOUTIERES SYNDROME 4 Tags
Green Green List (high evidence)	RNASEH2B	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 2, OMIM:610181 Tags
Green Green List (high evidence)	RNASEH2C	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 3, 610329 AICARDI-GOUTIERES SYNDROME 3 Tags
Green Green List (high evidence)	RNASET2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY Tags
Green Green List (high evidence)	RNF113A	6 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 Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 Tags Skewed X-inactivation
Green Green List (high evidence)	RNF125	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Tenorio syndrome, 616260 Intellectual disability Tags
Green Green List (high evidence)	RNF13	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 73, OMIM:618379 Tags
Green Green List (high evidence)	RNU7-1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi–Goutières syndrome-like Type I interferonopathy Tags gene-checked
Green Green List (high evidence)	ROBO1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual disability, MONDO:0001071 Neurooculorenal syndrome, OMIM:620305 Tags watchlist_moi
Green Green List (high evidence)	ROGDI	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Kohlschutter-Tonz syndrome, 226750 KOHLSCH TTER-T _NZ SYNDROME Tags
Green Green List (high evidence)	RORA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green Green List (high evidence)	RPGRIP1L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360 COACH SYNDROME (COACHS) Tags
Green Green List (high evidence)	RPIA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Ribose 5-phosphate isomerase deficiency, OMIM:608611 Tags
Green Green List (high evidence)	RPL10	6 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 Emory Genetics Laboratory Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998 Tags Q4_23_MOI
Green Green List (high evidence)	RPS6KA3	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 Coffin-Lowry syndrome, OMIM:303600 Intellectual developmental disorder, X-linked 19, OMIM:300844 Tags Q3_23_MOI
Green Green List (high evidence)	RRM2B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 Mitochondrial depletion syndrome Intellectual disability Tags
Green Green List (high evidence)	RSRC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder, autosomal recessive 70 618402 Tags
Green Green List (high evidence)	RTEL1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 Tags
Green Green List (high evidence)	RTN4IP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Optic atrophy 10, with or without ataxia, mental retardation, and seizures Tags
Green Green List (high evidence)	RTTN	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 Intellectual disability Tags
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes MIRAGE syndrome, 617053 Tags missense
Green Green List (high evidence)	SAMHD1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes AICARDI-GOUTIERES SYNDROME Tags
Green Green List (high evidence)	SARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 Tags new-gene-name
Green Green List (high evidence)	SARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Tags
Green Green List (high evidence)	SATB1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes intellectual disability developmental disorders Tags
Green Green List (high evidence)	SATB2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cleft palate and mental retardation, 119540 CLEFT PALATE ISOLATED (CPI) Tags
Green Green List (high evidence)	SBF1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Charcot-Marie-Tooth disease, type 4B3 615284 Tags
Green Green List (high evidence)	SC5D	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Lathosterolosis, 607330 LATHOSTEROLOSIS (LATHST) Tags
Green Green List (high evidence)	SCAF4	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Fliedner-Zweier syndrome, OMIM:620511 Tags
Green Green List (high evidence)	SCAMP5	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of nervous system morphology Behavioral abnormality Tags gene-checked
Green Green List (high evidence)	SCAPER	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Intellectual developmental disorder and retinitis pigmentosa, 618195 Tags
Green Green List (high evidence)	SCN1A	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 Epilepsy, generalized, with febrile seizures plus, type 2, 604403Dravet syndrome, 607208Migraine, familial hemiplegic, 3, 609634Febrile seizures, familial, 3A, 604403 SCN1A-RELATED SEIZURE DISORDERS Tags
Green Green List (high evidence)	SCN2A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721 NONSPECIFIC SEVERE ID Tags
Green Green List (high evidence)	SCN3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 62, 617938 intellectual disability Tags
Green Green List (high evidence)	SCN8A	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558 Tags
Green Green List (high evidence)	SCO2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908 FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY Tags
Green Green List (high evidence)	SCYL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 Tags
Green Green List (high evidence)	SDCCAG8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 7, 613615 Bardet-Biedl syndrome 16, 615993 Intellectual disability Tags
Green Green List (high evidence)	SDHA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165 LEIGH SYNDROME (NUCLEAR DNA MUTATION) Tags
Green Green List (high evidence)	SDHAF1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX II DEFICIENCY Tags
Green Green List (high evidence)	SEMA6B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual disability, MONDO:0001071 Tags
Green Green List (high evidence)	SEPSECS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2D, 613811 Tags
Green Green List (high evidence)	SERAC1	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 Tags
Green Green List (high evidence)	SET	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 Intellectual disability SET syndrome Mental retardation, autosomal dominant 58, 618106 Tags
Green Green List (high evidence)	SETBP1	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Schinzel-Giedion midface retraction syndrome, 269150 SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (SGMFS) Tags
Green Green List (high evidence)	SETD1A	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 Epilepsy, early-onset, with or without developmental delay, 618832 Tags
Green Green List (high evidence)	SETD1B	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with seizures and language delay, OMIM:619000 Intellectual developmental disorder with seizures and language delay, MONDO:0033559 Tags
Green Green List (high evidence)	SETD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Luscan-Lumish syndrome, 616831 intellectual disability Tags de novo
Green Green List (high evidence)	SETD5	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 Tags
Green Green List (high evidence)	SFXN4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 18 615578 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome 14 617575 Tags
Green Green List (high evidence)	SGSH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A (MPS3A) Tags
Green Green List (high evidence)	SHANK1	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green Green List (high evidence)	SHANK2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SUSCEPTIBILITY TO AUTISM TYPE 17 (AUTS17) Tags
Green Green List (high evidence)	SHANK3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Phelan-McDermid syndrome, 606232{Schizophrenia 15}, 613950 PHELAN-MCDERMID SYNDROME Tags
Green Green List (high evidence)	SHH	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-3, 142945Single median maxillary central incisor, 147250Microphthalmia with coloboma 5, 611638Schizencephaly, 269160 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME (TPTPS) Tags
Green Green List (high evidence)	SHMT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 Tags
Green Green List (high evidence)	SHOC2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Noonan-like syndrome with loose anagen hair, 607721 NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR Tags
Green Green List (high evidence)	SIAH1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Developmental delay Infantile hypotonia Dysmorphic features Laryngomalacia Tags
Green Green List (high evidence)	SIK1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes NEONATAL EPILEPSY SPECTRUM Tags
Green Green List (high evidence)	SIL1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Marinesco-Sjogren syndrome, 248800 MARINESCO-SJOEGREN SYNDROME (MSS) Tags
Green Green List (high evidence)	SIN3A	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 Witteveen-Kolk syndrome, 613406 Syndromic intellectual disability Tags
Green Green List (high evidence)	SIN3B	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic intellectual disability Tags gene-checked
Green Green List (high evidence)	SIX3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Holoprosencephaly-2, 157170 Schizensephaly, 269160 HOLOPROSENCEPHALY Tags
Green Green List (high evidence)	SKI	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Shprintzen-Goldberg syndrome, 182212 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME SGS Tags
Green Green List (high evidence)	SLC12A2	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kilquist syndrome deafness intellectual disability dysmorphic features absent salivation ectodermal dysplasia constipation intestinal malrotation multiple congenital anomalies Tags
Green Green List (high evidence)	SLC12A5	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 34, OMIM 616645 Tags
Green Green List (high evidence)	SLC12A6	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000 Tags
Green Green List (high evidence)	SLC13A5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE Tags
Green Green List (high evidence)	SLC16A2	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 Allan-Herndon-Dudley syndrome, OMIM:300523 Tags
Green Green List (high evidence)	SLC17A5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Salla disease, OMIM:604369 Sialic acid storage disorder, infantile, OMIM:269920 Tags
Green Green List (high evidence)	SLC19A3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2) Tags
Green Green List (high evidence)	SLC1A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dicarboxylic aminoaciduria 222730 Tags
Green Green List (high evidence)	SLC1A2	3 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, 41, OMIM:617105 developmental and epileptic encephalopathy, 41, MONDO:0014916 Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 Intellectual disability Tags
Green Green List (high evidence)	SLC25A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Tags
Green Green List (high evidence)	SLC25A12	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 39,612949 Hypomyelination, global cerebral Epileptic encephalopathy with global cerebral demyelination Delayed psychomotor development Tags
Green Green List (high evidence)	SLC25A15	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 Tags
Green Green List (high evidence)	SLC25A22	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 3, 609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 Tags
Green Green List (high evidence)	SLC2A1	7 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes GLUT1 deficiency syndrome 1, 606777 GLUT1 deficiency syndrome 2, 612126 {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 Dystonia 9, 601042 GLUT1 DEFICIENCY SYNDROME TYPE 1 (GLUT1DS1) Tags
Green Green List (high evidence)	SLC32A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental and epileptic encephalopathy 114, OMIM:620774 Tags
Green Green List (high evidence)	SLC33A1	6 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482 Tags
Green Green List (high evidence)	SLC35A1	7 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIf, 603585 intellectual disability, ataxia, seizures, bleeding diathesis and proteinuria Tags
Green Green List (high evidence)	SLC35A2	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 Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION Tags
Green Green List (high evidence)	SLC35C1	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 IIc, 266265 CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C (CDG2C) Tags
Green Green List (high evidence)	SLC38A3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Developmental and epileptic encephalopathy 102, 619881 Tags
Green Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypermanganesemia with dystonia 2 617013 Tags
Green Green List (high evidence)	SLC39A8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIn 616721 Tags
Green Green List (high evidence)	SLC46A1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HEREDITARY FOLATE MALABSORPTION (HFM) Tags
Green Green List (high evidence)	SLC4A4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES (PRTA-OA) Tags
Green Green List (high evidence)	SLC5A6	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 Tags
Green Green List (high evidence)	SLC6A1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoclonic-atonic epilepsy, OMIM:616421 Tags
Green Green List (high evidence)	SLC6A17	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 Tags
Green Green List (high evidence)	SLC6A19	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hartnup disorder 234500 Iminoglycinuria, digenic 242600 Tags
Green Green List (high evidence)	SLC6A3	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PARKINSONISM-DYSTONIA, INFANTILE Tags
Green Green List (high evidence)	SLC6A8	3 reviews 3 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 Cerebral creatine deficiency syndrome 1, 300352 X-LINKED CREATINE DEFICIENCY SYNDROME (XL-CDS) Tags
Green Green List (high evidence)	SLC6A9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycine encephalopathy with normal serum glycine, OMIM:617301 Tags
Green Green List (high evidence)	SLC9A6	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 Mental retardation, X-linked syndromic, Christianson type, 300243 MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE (MRXSC) Tags
Green Green List (high evidence)	SLX4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P Tags
Green Green List (high evidence)	SMAD4	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Myhre syndrome, 139210 Includes intellectual disability Tags
Green Green List (high evidence)	SMARCA2	6 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Nicolaides-Baraitser syndrome, OMIM:601358 Coffin-siris syndrome Blepharophimosis intellectual disability syndrome Tags
Green Green List (high evidence)	SMARCA4	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 4, OMIM:614609 Tags
Green Green List (high evidence)	SMARCA5	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual disability postnatal microcephaly hypotonia failure to thrive Tags gene-checked
Green Green List (high evidence)	SMARCB1	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 3, OMIM:614608 Tags
Green Green List (high evidence)	SMARCC2	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Global developmental delay Intellectual disability neurodevelopmental delay and growth retardation prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features Tags
Green Green List (high evidence)	SMARCD1	6 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Generalized hypotonia Feeding difficulties Global developmental delay Intellectual disability Abnormality of the hand Abnormality of the foot Coffin-Siris syndrome 11, 618779 Tags
Green Green List (high evidence)	SMARCE1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 5, OMIM:616938 Tags
Green Green List (high evidence)	SMC1A	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 Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Tags
Green Green List (high evidence)	SMC3	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 Cornelia de Lange syndrome 3, 610759 CDLS3 Tags
Green Green List (high evidence)	SMG8	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Intellectual disability Microcephaly Short stature Facial dysmorphism Tags
Green Green List (high evidence)	SMOC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microphthalmia with limb anomalies, 206920 OPHTHALMOACROMELIC SYNDROME (OAS) Tags
Green Green List (high evidence)	SMPD1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Niemann-Pick disease, type A, 257200Niemann-Pick disease, type B, 607616 NIEMANN-PICK DISEASE TYPE A (NPDA) Tags
Green Green List (high evidence)	SMPD4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Research Phenotypes cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis Tags
Green Green List (high evidence)	SMS	2 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, Snyder-Robinson type, 309583 SNYDER-ROBINSON SYNDROME (SRS) Tags
Green Green List (high evidence)	SNAP25	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes ?Myasthenic syndrome, congenital 18, 616330 ?Myasthenic syndrome, congenital, 18, 616330 Tags
Green Green List (high evidence)	SNAP29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 CEDNIK SYNDROME Tags
Green Green List (high evidence)	SNIP1	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787 Tags founder-effect
Green Green List (high evidence)	SNORD118	6 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy, brain calcifications, and cysts 614561 Tags locus-type-small-nucleolar
Green Green List (high evidence)	SNRPB	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CEREBRO-COSTO-MANDIBULAR SYNDROME Tags
Green Green List (high evidence)	SNX14	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA Tags
Green Green List (high evidence)	SNX27	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Seizures Tags gene-checked
Green Green List (high evidence)	SON	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 ZTTK syndrome 617140 Tags
Green Green List (high evidence)	SOS1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Fibromatosis, gingival, 135300Noonan syndrome 4, 610733 NOONAN SYNDROME 4 Tags
Green Green List (high evidence)	SOS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Noonan syndrome 9 Tags
Green Green List (high evidence)	SOX10	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 4C, 613266Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584PCWH syndrome, 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (PCWH) Tags
Green Green List (high evidence)	SOX11	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Coffin-Siris syndrome 9, OMIM:615866 Tags
Green Green List (high evidence)	SOX2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes AEG SYNDROME Tags
Green Green List (high evidence)	SOX4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 10, OMIM:618506 Syndromic intellectual disability Global developmental delay Intellectual disability Growth delay Clinodactyly of the 5th finger facial dysmorphism Tags
Green Green List (high evidence)	SOX5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	SOX6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes intellectual diability ADHD Craniosynostosis Osteochondromas Tags
Green Green List (high evidence)	SOX9	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Campomelic dysplasia with autosomal sex reversal, 114290 Acampomelic campomelic dysplasia, 114290 Campomelic dysplasia, 114290 intellectual disability Tags
Green Green List (high evidence)	SPART	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Troyer syndrome, OMIM:275900 Tags
Green Green List (high evidence)	SPATA5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 Tags new-gene-name
Green Green List (high evidence)	SPATA5L1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags gene-checked new-gene-name
Green Green List (high evidence)	SPECC1L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Opitz GBBB syndrome, type II,145410 Intellectual disability Autosomal dominant Opitz G/BBB syndrome Tags
Green Green List (high evidence)	SPEN	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental disorders Tags
Green Green List (high evidence)	SPG11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 11, autosomal recessive, 604360 SPASTIC PARAPLEGIA-11 Tags
Green Green List (high evidence)	SPOP	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Nabais Sa-de Vries syndrome, type 1, 618828 Nabais Sa-de Vries syndrome, type 2, 618829 Tags
Green Green List (high evidence)	SPR	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Tags treatable
Green Green List (high evidence)	SPRED1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Legius syndrome, 611431 LEGIUS SYNDROME Tags
Green Green List (high evidence)	SPRED2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes developmental delay intellectual disability cardiac defects short stature skeletal anomalies a typical facial gestalt Tags
Green Green List (high evidence)	SPTAN1	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 5, OMIM:613477 developmental and epileptic encephalopathy, 5, MONDO:0013277 Tags
Green Green List (high evidence)	SPTBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes autosomal dominant neurodevelopmental syndrome Tags
Green Green List (high evidence)	SPTBN2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 Tags
Green Green List (high evidence)	SPTBN4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519 Tags
Green Green List (high evidence)	SRCAP	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, OMIM:619595 Floating-Harbor syndrome, OMIM:136140 Tags
Green Green List (high evidence)	SRD5A3	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 Iq, 612379Kahrizi syndrome, 612713 CONGENITAL DISORDERS OF GLYCOSYLATION Tags
Green Green List (high evidence)	SRRM2	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder, autosomal dominant 72, OMIM:620439 Tags
Green Green List (high evidence)	SSR4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Iy, 300934 CDG syndrome type Iy SSR4-CDG Tags
Green Green List (high evidence)	ST3GAL3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 15, OMIM:615006 developmental and epileptic encephalopathy, 15, MONDO:0014003 Intellectual developmental disorder, autosomal recessive 12, OMIM:611090 intellectual disability, autosomal recessive 12, MONDO:0012612 Tags
Green Green List (high evidence)	ST3GAL5	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Salt and pepper developmental regression syndrome, 609056 Developmental regression Intellectual disability Tags
Green Green List (high evidence)	STAG1	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 47, 617635 Syndromic unspecific intellectual disability Tags microdeletion
Green Green List (high evidence)	STAG2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes STAG2-related developmental delay with microcephaly and congenital anomalies STAG2-related X-linked Intellectual Deficiency cohesinopathy Global developmental delay Intellectual disability Abnormality of head or neck Microcephaly Growth delay Hearing impairment Abnormal heart morphology Tags
Green Green List (high evidence)	STAMBP	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261 Tags
Green Green List (high evidence)	STIL	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly 7, primary, autosomal recessive, 612703 MICROCEPHALY PRIMARY TYPE 7 Tags
Green Green List (high evidence)	STRA6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186 MICROPHTHALMIA SYNDROMIC TYPE 9 (MCOPS9) Tags
Green Green List (high evidence)	STRADA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, MIM:611087 (includes mental retardation) severe psychomotor retardation Tags deletions
Green Green List (high evidence)	STT3A	7 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714 Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 Tags
Green Green List (high evidence)	STX1B	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 Tags
Green Green List (high evidence)	STXBP1	5 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 Developmental and epileptic encephalopathy 4, OMIM:612164 developmental and epileptic encephalopathy, 4, MONDO:0012812 Tags
Green Green List (high evidence)	SUCLG1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes FATAL INFANTILE LACTIC ACIDOSIS Tags
Green Green List (high evidence)	SUFU	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Joubert syndrome 32, OMIM:617757 Tags
Green Green List (high evidence)	SUMF1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SULFATIDOSIS, JUVENILE, AUSTIN TYPE Tags
Green Green List (high evidence)	SUOX	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Sulfite oxidase deficiency, 272300 Tags
Green Green List (high evidence)	SUPT16H	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum, OMIM:619480 Global developmental delay Intellectual disability Abnormality of the corpus callosum Tags
Green Green List (high evidence)	SURF1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome, due to COX deficiency, 256000 LEIGH SYNDROME (NUCLEAR DNA MUTATION) Tags
Green Green List (high evidence)	SUZ12	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Imagawa-Matsumoto syndrome 618786 Tags
Green Green List (high evidence)	SVBP	8 reviews 2 green 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM:618569 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, MONDO:0032816 Tags gene-checked
Green Green List (high evidence)	SYN1	2 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 Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS Tags
Green Green List (high evidence)	SYNCRIP	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Global developmental delay Intellectual disability Autism Myoclonic atonic seizures Abnormality of nervous system morphology Tags gene-checked
Green Green List (high evidence)	SYNGAP1	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 5, 612621 EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	SYNJ1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes early onset refractory seizures and progressive neurological decline Epileptic encephalopathy, early infantile, 53, 617389 Tags
Green Green List (high evidence)	SYP	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 96, 300802 MENTAL RETARDATION X-LINKED SYP-RELATED (MRXSYP) Tags
Green Green List (high evidence)	SYT1	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes INTELLECTUAL DISABILITY SYT1-associated neurodevelopmental disorder Tags de novo
Green Green List (high evidence)	SZT2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 18, 615476 developmental delay non-syndromic intellectual disability absent developmental milestones Tags
Green Green List (high evidence)	TAF1	5 reviews 2 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic 33, 300966 global developmental delay intellectual disability Tags
Green Green List (high evidence)	TAF2	6 reviews 3 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 40, OMIM:615599 Tags
Green Green List (high evidence)	TAF4	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder, autosomal dominant 73, OMIM:620450 Tags
Green Green List (high evidence)	TAF6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Alazami-Yuan syndrome, 617126 Intellectual disability Tags
Green Green List (high evidence)	TAF8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 Tags
Green Green List (high evidence)	TANC2	7 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 Tags
Green Green List (high evidence)	TANGO2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 Tags
Green Green List (high evidence)	TAOK1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes INTELLECTUAL DISABILITY developmental delay Tags
Green Green List (high evidence)	TASP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Suleiman-El-Hattab syndrome, OMIM:618950 Tags
Green Green List (high evidence)	TAT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Tyrosinemia, type II, 276600 TYROSINEMIA TYPE 2 (TYRO2) Tags
Green Green List (high evidence)	TAZ	5 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes BARTH SYNDROME BTHS Tags new-gene-name
Green Green List (high evidence)	TBC1D20	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Warburg micro syndrome 4, 615663 mental retardation developmental delay Tags
Green Green List (high evidence)	TBC1D23	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 11, 617695 Intellectual disability Tags
Green Green List (high evidence)	TBC1D24	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Myoclonic epilepsy, infantile, familial, 605021Epileptic encephalopathy, early infantile, 16, 615338 NON SYNDROMAL HEARING LOSS Tags
Green Green List (high evidence)	TBCD	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 Tags
Green Green List (high evidence)	TBCE	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Kenny-Caffey syndrome-1, 244460Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 KENNY-CAFFEY SYNDROME TYPE 1 (KCS1) Tags
Green Green List (high evidence)	TBCK	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 616900 Tags
Green Green List (high evidence)	TBL1XR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes AUTISM Tags
Green Green List (high evidence)	TBR1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Autism Intellectual developmental disorder with autism and speech delay, 606053 Abnormal cortical gyration Tags
Green Green List (high evidence)	TCEAL1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, OMIM:301094 Tags
Green Green List (high evidence)	TCF20	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes TCF20 syndrome Intellectual disability developmental delay Developmental delay with variable intellectual impairment and behavioral abnormalities 618430 Tags de novo
Green Green List (high evidence)	TCF4	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 Pitt-Hopkins syndrome, 610954 PITT-HOPKINS SYNDROME (PTHS) Tags
Green Green List (high evidence)	TCF7L2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental disorders Global developmental delay Intellectual disability Autism Attention deficit hyperactivity disorder Myopia Abnormality of skeletal system Tags
Green Green List (high evidence)	TCN2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Transcobalamin II deficiency can have a presentation similar to severe combined immunodeficiency pancytopenia neutropenic colitis Agammaglobulinemia megaloblastic bone marrow thrombocytopenia neutropenia failure to thrive hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. Tags
Green Green List (high evidence)	TCTN2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes JOUBERT SYNDROME AND RELATED DISORDERS Tags
Green Green List (high evidence)	TCTN3	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Orofaciodigital syndrome IV, 258860 Joubert syndrome 18, 614815 Tags
Green Green List (high evidence)	TDP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 23, 616949) Tags
Green Green List (high evidence)	TECPR2	6 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spastic paraplegia 49, autosomal recessive, 615031 Tags
Green Green List (high evidence)	TELO2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes You-Hoover-Fong syndrome, 616954, syndromic intellectual disability Tags
Green Green List (high evidence)	TENM3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microphthalmia, syndromic 15, OMIM:615145 ?Microphthalmia, isolated, with coloboma 9, OMIM:615145 Microphthalmia, isolated, with coloboma 9, MONDO:0014059 Tags
Green Green List (high evidence)	TET3	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Beck-Fahrner syndrome OMIM:618798 Tags
Green Green List (high evidence)	TFE3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 Tags Skewed X-inactivation
Green Green List (high evidence)	TGIF1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes HOLOPROSENCEPHALY Tags
Green Green List (high evidence)	TH	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes DOPA-RESPONSIVE DYSTONIA Tags
Green Green List (high evidence)	THOC2	4 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mental retardation, X-linked 12/35, 300957 Tags
Green Green List (high evidence)	THOC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Beaulieu-Boycott-Innes syndrome, 613680 Includes developmental delay and mental retardation Tags
Green Green List (high evidence)	THRA	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 Tags
Green Green List (high evidence)	THUMPD1	8 reviews 4 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with speech delay and variable ocular anomalies, OMIM:619989 Tags
Green Green List (high evidence)	TIAM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with language delay and seizures, OMIM:619908 Tags
Green Green List (high evidence)	TIMM50	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes 3-methylglutaconic aciduria, type IX, 617698 Tags
Green Green List (high evidence)	TLK2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 57, OMIM:618050 Mental retardation, autosomal dominant 57, MONDO:0054837 Tags
Green Green List (high evidence)	TMCO1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132 CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME Tags
Green Green List (high evidence)	TMEM106B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 16, OMIM:617964 Leukodystrophy, hypomyelinating, 16, MONDO:0054791 Tags missense
Green Green List (high evidence)	TMEM147	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly, OMIM:620075 Tags
Green Green List (high evidence)	TMEM165	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 IIk, 614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK Tags
Green Green List (high evidence)	TMEM216	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes JOUBERT SYNDROME 2 Tags
Green Green List (high evidence)	TMEM222	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Motor delay Delayed speech and language development Intellectual disability Generalized hypotonia Broad-based gait Abnormality of nervous system morphology Seizures Microcephaly Behavioral abnormality Tags gene-checked
Green Green List (high evidence)	TMEM237	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 14, 614424 JOUBERT SYNDROME 14 Tags
Green Green List (high evidence)	TMEM240	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Spinocerebellar ataxia 21, 607454 Tags
Green Green List (high evidence)	TMEM5	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SEVERE COBBLESTONE LISSENCEPHALY Tags new-gene-name
Green Green List (high evidence)	TMEM63C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes hereditary spastic paraplegia, MONDO:0019064 Tags gene-checked
Green Green List (high evidence)	TMEM67	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550 COACH SYNDROME(COACHS) Tags
Green Green List (high evidence)	TMEM70	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 Tags
Green Green List (high evidence)	TMEM94	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 Global developmental delay Intellectual disability Abnormal heart morphology Abnormality of head or neck Tags gene-checked
Green Green List (high evidence)	TMTC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lissencephaly 8, 617255 includes intellectual disability Tags
Green Green List (high evidence)	TMX2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 Tags
Green Green List (high evidence)	TNPO2	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Intellectual disability Dysmorphic features Microcephaly Seizures Hypotonia Tags
Green Green List (high evidence)	TNRC6B	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Global developmental delay Intellectual disability Autistic behaviour Tags
Green Green List (high evidence)	TOE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pontocerebellar hypoplasia, type 7 614969 Tags
Green Green List (high evidence)	TOR1A	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947 Arthrogryposis multiplex congenita 5, MONDO:0100218 Tags
Green Green List (high evidence)	TP73	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466 Tags
Green Green List (high evidence)	TPP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500 NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2) Tags
Green Green List (high evidence)	TPP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, OMIM:619220 Tags
Green Green List (high evidence)	TRA2B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags gene-checked
Green Green List (high evidence)	TRAF7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 Global developmental delay Abnormal heart morphology Abnormality of digit Abnormality of limbs Tags
Green Green List (high evidence)	TRAIP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seckel syndrome 9, 616777 Tags
Green Green List (high evidence)	TRAPPC12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 Tags
Green Green List (high evidence)	TRAPPC4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 Tags
Green Green List (high evidence)	TRAPPC6B	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 Tags
Green Green List (high evidence)	TRAPPC9	3 reviews 3 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, autosomal recessive 13, OMIM:613192 Tags
Green Green List (high evidence)	TREX1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750Chilblain lupus, 610448Vasculopathy, retinal, with cerebral leukodystrophy, 192315{Systemic lupus erythematosus, susceptibility to}, 152700 AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE Tags
Green Green List (high evidence)	TRIM8	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 Tags
Green Green List (high evidence)	TRIO	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825 Tags
Green Green List (high evidence)	TRIP12	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 Mental retardation, autosomal dominant 49 617752 Tags
Green Green List (high evidence)	TRIT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags gene-checked
Green Green List (high evidence)	TRMT1	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes autosomal recessive intellectual disorder ARID Mental retardation, autosomal recessive 68, 618302 Global developmental delay Intellectual disability Tags
Green Green List (high evidence)	TRMT10A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Young onset diabetes, short stature and microcephaly with intellectual disability Tags
Green Green List (high evidence)	TRNT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Tags
Green Green List (high evidence)	TRPM3	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224 Tags missense
Green Green List (high evidence)	TRRAP	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Microcephaly Seizures Abnormal heart morphology Autism Developmental delay with or without dysmorphic facies and autism, 603015 Intellectual disability Abnormality of the urinary system Global developmental delay Tags
Green Green List (high evidence)	TSC1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis-1, 191100Lymphangioleiomyomatosis, 606690 Focal cortical dysplasia, Taylor balloon cell type, 607341 TUBEROUS SCLEROSIS TYPE 1 (TSC1) Tags
Green Green List (high evidence)	TSC2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Tuberous sclerosis-2, 613254Lymphangioleiomyomatosis, somatic, 606690 LYMPHANGIOLEIOMYOMATOSIS (LAM) Tags
Green Green List (high evidence)	TSEN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 Tags
Green Green List (high evidence)	TSEN34	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 Tags
Green Green List (high evidence)	TSEN54	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Pontocerebellar hypoplasia type 5, OMIM:610204 Pontocerebellar hypoplasia type 2A, OMIM:277470 Pontocerebellar hypoplasia type 4, OMIM:225753 Tags
Green Green List (high evidence)	TSFM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Green Green List (high evidence)	TSHB	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 Tags
Green Green List (high evidence)	TSPAN7	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 58, 300210 MENTAL RETARDATION X-LINKED TYPE 58 Tags
Green Green List (high evidence)	TTC19	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY Tags
Green Green List (high evidence)	TTC37	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 1, 222470 Tags new-gene-name
Green Green List (high evidence)	TTC5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Central hypotonia Global developmental delay Intellectual disability Abnormality of nervous system morphology Microcephaly Abnormality of the face Behavioral abnormality Abnormality of the genitourinary system Tags gene-checked
Green Green List (high evidence)	TTC8	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bardet-Biedl syndrome 8, 209900Retinitis pigmentosa 51, 613464 RETINITIS PIGMENTOSA TYPE 51 (RP51) Tags
Green Green List (high evidence)	TTI2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Mental retardation, autosomal recessive 39, 615541 Tags
Green Green List (high evidence)	TUBA1A	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, 611603 INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	TUBB	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 Tags
Green Green List (high evidence)	TUBB2A	5 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 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Green Green List (high evidence)	TUBB2B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 Tags
Green Green List (high evidence)	TUBB3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES Tags
Green Green List (high evidence)	TUBB4A	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM (H-ABC) Tags
Green Green List (high evidence)	TUBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 Tags
Green Green List (high evidence)	TUBGCP6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION Tags
Green Green List (high evidence)	TUSC3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 Tags
Green Green List (high evidence)	TWIST1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SAETHRE-CHOTZEN SYNDROME Tags
Green Green List (high evidence)	UBA5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 44, 617132 Intellectual disability Tags
Green Green List (high evidence)	UBAP2L	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494 Tags
Green Green List (high evidence)	UBE2A	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, Nascimento-type, 300860 UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION Tags
Green Green List (high evidence)	UBE3A	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Angelman syndrome, 105830 ANGELMAN SYNDROME Tags
Green Green List (high evidence)	UBE3B	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes BLEPHAROPHIMOSIS-MENTAL RETARDATION Tags
Green Green List (high evidence)	UBE4A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Intellectual disability Tags
Green Green List (high evidence)	UBR1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Johanson-Blizzard syndrome, 243800 JOHANSON-BLIZZARD SYNDROME (JBS) Tags
Green Green List (high evidence)	UBR7	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability epilepsy hypothyroidism congenital anomalies dysmorphic features Tags
Green Green List (high evidence)	UBTF	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, OMIM:617672 Tags
Green Green List (high evidence)	UFM1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes global developmental delay with progressive microcephaly Leukodystrophy hypomyelinating 14, 617899 Leukodystrophy, hypomyelinating, 14, 617899 Tags de novo
Green Green List (high evidence)	UFSP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Abnormal muscle tone Seizures Global developmental delay Delayed speech and language development Intellectual disability Strabismus Tags founder-effect
Green Green List (high evidence)	UGDH	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green Green List (high evidence)	UGP2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 83, OMIM:618744 Tags
Green Green List (high evidence)	UMPS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes OROTIC ACIDURIA TYPE 1 (ORAC1) Tags
Green Green List (high evidence)	UNC80	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 Tags
Green Green List (high evidence)	UPF3B	4 reviews 4 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, syndromic 14, 300676 MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 (MRXS14) Tags
Green Green List (high evidence)	UROC1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes UROCANASE DEFICIENCY (UROD) Tags
Green Green List (high evidence)	USP7	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hao-Fountain syndrome, 616863 Tags
Green Green List (high evidence)	USP9X	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 99 300919 XLR Mental retardation, X-linked 99, syndromic, female-restricted 300968 Tags
Green Green List (high evidence)	VAMP2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Cortical visual impairment Seizures Stereotypic behavior Generalized hypotonia Intellectual disability Abnormality of movement Global developmental delay Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment Autistic behavior Tags
Green Green List (high evidence)	VARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes NDMSCA Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY Tags new-gene-name
Green Green List (high evidence)	VARS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 20, OMIM #615917 Tags
Green Green List (high evidence)	VLDLR	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 (CMARQ1) Tags
Green Green List (high evidence)	VPS11	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 12, 616683 Leukodystrophy, hypomyelinating, 12 (MIM 616683) Tags
Green Green List (high evidence)	VPS13B	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 Cohen syndrome, 216550 COHEN SYNDROME Tags
Green Green List (high evidence)	VPS41	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dystonia Intellectual disability Tags
Green Green List (high evidence)	VPS4A	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Research Phenotypes CIMDAG syndrome Tags
Green Green List (high evidence)	VPS53	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 2E, 615851 Progressive cerebello-cerebral atrophy intellectual disability developmental delay Tags founder-effect
Green Green List (high evidence)	VRK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia type 1A, 607596 PONTOCEREBELLAR HYPOPLASIA TYPE 1 Tags
Green Green List (high evidence)	WAC	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Paper out in august Tags
Green Green List (high evidence)	WARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 Tags
Green Green List (high evidence)	WASF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with absent language and variable seizures, 618707 ID associated with autistic features, seizures, and developmental delay intellectual disability Tags
Green Green List (high evidence)	WDFY3	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Microcephaly 18, primary, autosomal dominant, 617520 Tags
Green Green List (high evidence)	WDPCP	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 15 (BBS15) Tags
Green Green List (high evidence)	WDR26	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Skraban-Deardorff syndrome 617616 intellectual disability Tags
Green Green List (high evidence)	WDR37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of the eye Abnormality of nervous system morphology Hearing abnormality Abnormality of the cardiovascular system Abnormality of the skeletal system Abnormality of the genitourinary system Neurooculocardiogenitourinary syndrome, OMIM:618652 Tags gene-checked missense
Green Green List (high evidence)	WDR4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 6, OMIM:61834 Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618347 Tags
Green Green List (high evidence)	WDR45	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 Phenotypes Neurodegeneration with brain iron accululation 5, 300894 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA) Tags
Green Green List (high evidence)	WDR45B	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 Tags
Green Green List (high evidence)	WDR62	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 Tags
Green Green List (high evidence)	WDR73	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME Galloway-Mowat syndrome 1, 251300 Tags
Green Green List (high evidence)	WDR81	7 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes cerebellar ataxia, intellectual disability and quadrupedal locomotion Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 Tags
Green Green List (high evidence)	WIPI2	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453 Tags
Green Green List (high evidence)	WNK3	4 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Prieto syndrome, OMIM:309610 Intellectual disability, MONDO:0001071 Tags
Green Green List (high evidence)	WNT1	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Osteogenesis imperfecta, type XV, 615220 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 Tags
Green Green List (high evidence)	WWOX	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 Tags
Green Green List (high evidence)	XRCC4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PRIMORDIAL DWARFISM Tags
Green Green List (high evidence)	XYLT1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Desbuquois dysplasia 2, 615777 Tags
Green Green List (high evidence)	YIF1B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags gene-checked
Green Green List (high evidence)	YIPF5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 Tags
Green Green List (high evidence)	YWHAG	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile 56, 617665 Intellectual disability Tags
Green Green List (high evidence)	YY1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gabriele-de Vries syndrome 617557 Tags
Green Green List (high evidence)	ZBTB18	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes intellectual disability with variable features global developmental delay Mental retardation, autosomal dominant 22, 612337 Tags
Green Green List (high evidence)	ZBTB20	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes PRIMROSE SYNDROME Tags
Green Green List (high evidence)	ZBTB24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 intellectual disability Tags
Green Green List (high evidence)	ZBTB7A	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Other Phenotypes Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin, OMIM:619769 Tags
Green Green List (high evidence)	ZC4H2	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 Expert Review Green NHS GMS Phenotypes Wieacker-Wolff syndrome, OMIM:314580 Wieacker-Wolff syndrome, female-restricted, OMIM:301041 Tags
Green Green List (high evidence)	ZDHHC9	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, Raymond type, OMIM:300799 Tags
Green Green List (high evidence)	ZEB2	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 Mowat-Wilson syndrome, 235730 MOWAT-WILSON SYNDROME (MWIS) Tags
Green Green List (high evidence)	ZFHX4	6 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Developmental disorders intellectual disability, dysmorphic features Tags
Green Green List (high evidence)	ZFYVE26	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 (SPG15) Tags
Green Green List (high evidence)	ZIC1	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green Phenotypes Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736 ?Craniosynostosis 6, 616602 Tags
Green Green List (high evidence)	ZIC2	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-5, 609637 HOLOPROSENCEPHALY Tags
Green Green List (high evidence)	ZMIZ1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Phenotypes Abnormality of head or neck Microcephaly Abnormality of the cardiovascular system Abnormality of the skeletal system Feeding difficulties Intellectual disability Global developmental delay Abnormality of the urinary system Growth abnormality Global developmental delay, Intellectual disability, Feeding difficulties, Growth abnormality, Microcephaly, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the cardiovascular system, Abnormality of head or neck Tags
Green Green List (high evidence)	ZMYM2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 Tags
Green Green List (high evidence)	ZMYM3	5 reviews 2 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 NHS GMS Phenotypes Intellectual developmental disorder, X-linked 112, OMIM:301111 Tags
Green Green List (high evidence)	ZMYND11	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)	ZMYND8	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Delayed speech and language development Motor delay Intellectual disability Abnormality of cardiovascular system morphology Hearing abnormality Abnormality of vision Abnormality of the face Seizures Tags gene-checked
Green Green List (high evidence)	ZNF142	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Seizures Dystonia Intellectual disability Global developmental delay Tremor Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 Tags
Green Green List (high evidence)	ZNF292	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Intellectual developmental disorder, autosomal dominant 64, OMIM:619188 intellectual developmental disorder, autosomal dominant 64, MONDO:0030934 Tags
Green Green List (high evidence)	ZNF335	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Microcephaly 10, primary, autosomal recessive, 615095 Tags
Green Green List (high evidence)	ZNF462	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes Prominent metopic ridge Ptosis Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior Intellectual disability Global developmental delay Craniosynostosis Autistic behavior Tags
Green Green List (high evidence)	ZNF526	5 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intellectual disability Microcephaly Cataracts Epilepsy Hypertonia Dystonia Tags
Green Green List (high evidence)	ZNF699	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes DEGCAGS syndrome, OMIM:619488 Tags
Green Green List (high evidence)	ZNF711	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 97, 300803 MENTAL RETARDATION X-LINKED ZNF711-RELATED (MRXZ) Tags
Green Green List (high evidence)	ZSWIM6	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Phenotypes Acromelic frontonasal dysostosis, 603671 Includes mental retardation acromelic frontonasal dysostosis with severe intellectual disability Tags curated-variant-list mosaicism
Amber Amber List (moderate evidence)	ACACA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Acetyl-CoA carboxylase deficiency, OMIM: 613933 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ACADSB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 2-methylbutyrylglycinuria, 610006 Tags
Amber Amber List (moderate evidence)	ACADVL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes VLCAD deficiency, 201475 Tags
Amber Amber List (moderate evidence)	ACAT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	ACBD6	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	ACP5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Spondyloenchondrodysplasia with immune dysregulation, 607944 Tags
Amber Amber List (moderate evidence)	ACTA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 6, 611788 Multisystemic smooth muscle dysfunction syndrome, 613834 Moyamoya disease 5, 614042 Tags
Amber Amber List (moderate evidence)	ACVR1	5 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Fibrodysplasia ossificans progressiva 135100 Tags
Amber Amber List (moderate evidence)	ADA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Severe combined immunodeficiency due to ADA deficiency, OMIM:102700 Adenosine deaminase deficiency, partial, OMIM:102700 Tags gene-therapy-trial
Amber Amber List (moderate evidence)	ADAMTS10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Weill-Marchesani syndrome 1, recessive, MIM#277600 Tags
Amber Amber List (moderate evidence)	ADPRHL2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 Tags new-gene-name watchlist
Amber Amber List (moderate evidence)	AGAP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Cerebral palsy Tags
Amber Amber List (moderate evidence)	AGMO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes microcephaly intellectual disability epilepsy developmental delay Tags
Amber Amber List (moderate evidence)	AGPAT3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags
Amber Amber List (moderate evidence)	AGPS	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Rhizomelic chondrodysplasia punctata, type 3, 600121 Tags
Amber Amber List (moderate evidence)	AGTPBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	AGXT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Hyperoxaluria, primary, type 1, 259900 Tags
Amber Amber List (moderate evidence)	AIMP2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 17, 618006 neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis Tags
Amber Amber List (moderate evidence)	AIPL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Leber congenital amaurosis 4, 604393 Retinitis pigmentosa, juvenile, 604393 Cone-rod dystrophy, 604393 Tags
Amber Amber List (moderate evidence)	AIRE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without,reversible metaphyseal dysplasia, 240300 Tags
Amber Amber List (moderate evidence)	AK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes NA Tags
Amber Amber List (moderate evidence)	AKR1D1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Bile acid synthesis defect, congenital, 2, 235555 Tags
Amber Amber List (moderate evidence)	AKT1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Cowden syndrome 6 OMIM:164730 Tags watchlist
Amber Amber List (moderate evidence)	ALAD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Porphyria, acute hepatic, 612740 {Lead poisoning, susceptibility to}, 612740 Tags
Amber Amber List (moderate evidence)	ALDOA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	ALG14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 Intellectual disability Tags
Amber Amber List (moderate evidence)	ALPL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Hypophosphatasia, infantile, 241500 Hypophosphatasia, childhood, 241510 Odontohypophosphatasia, 146300 Hypophosphatasia, adult, 146300 Tags
Amber Amber List (moderate evidence)	ALX3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	ALX4	7 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Parietal foramina Parietal foramina 2, (AD), 609597 Frontonasal dysplasia 2, (AR), 613451 Tags
Amber Amber List (moderate evidence)	ANO5	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gnathodiaphyseal dysplasia, 166260 Muscular dystrophy, limb-girdle, type 2L, 611307 Miyoshi muscular dystrophy 3, 613319 Tags
Amber Amber List (moderate evidence)	ANTXR1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes {Hemangioma, capillary infantile, susceptibility to}, 602089 GAPO syndrome, 230740 Tags
Amber Amber List (moderate evidence)	AP1B1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Failure to thrive Abnormality of the skin Hearing abnormality Abnormality of copper homeostasis Global developmental delay Intellectual disability Tags
Amber Amber List (moderate evidence)	AP2S1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags watchlist
Amber Amber List (moderate evidence)	ARF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability, MONDO:0001071 Seizures Morphological abnormality of the central nervous system microcephaly, MONDO:0001149 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ARHGAP35	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags watchlist
Amber Amber List (moderate evidence)	ARL14EP	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Amber Amber List (moderate evidence)	ARMC4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Ciliary dyskinesia, primary, 23, 615451 Tags new-gene-name
Amber Amber List (moderate evidence)	ASCC3	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 Tags
Amber Amber List (moderate evidence)	ASTN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Intellectual disability Tags watchlist
Amber Amber List (moderate evidence)	ATG4D	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	ATP11A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags watchlist
Amber Amber List (moderate evidence)	ATP6AP1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 47, MIM#300972 Tags watchlist
Amber Amber List (moderate evidence)	ATP6V0C	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	ATXN2L	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability Macrocephaly Tags watchlist
Amber Amber List (moderate evidence)	B3GALT6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 Ehlers-Danlos syndrome, progeroid type, 2, 615349 Tags
Amber Amber List (moderate evidence)	B4GALT1	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IId, OMIM:607091 Tags
Amber Amber List (moderate evidence)	B9D1	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Amber Amber List (moderate evidence)	BAZ2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	BCORL1	7 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 Amber Phenotypes Shukla-Vernon syndrome, 301029 Tags watchlist
Amber Amber List (moderate evidence)	BSND	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	C16orf62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 3C/Ritscher-Schinzel-like syndrome Tags new-gene-name
Amber Amber List (moderate evidence)	C8orf37	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Retinitis pigmentosa 64, 614500 Cone-rod dystrophy 16, 614500 Tags new-gene-name
Amber Amber List (moderate evidence)	CACNA2D2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar atrophy with seizures and variable developmental delay, 618501 Tags
Amber Amber List (moderate evidence)	CACNB4	5 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Episodic ataxia, type 5 613855 {Epilepsy, idiopathic generalized, susceptibility to, 9} 607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} 607682 Tags
Amber Amber List (moderate evidence)	CAMK2G	5 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Mental retardation, autosomal dominant 59, 618522 Tags
Amber Amber List (moderate evidence)	CAMSAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	CAPZA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes intellectual disability Tags
Amber Amber List (moderate evidence)	CARS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined oxidative phosphorylation deficiency 27 616672 Tags
Amber Amber List (moderate evidence)	CASP2	5 reviews 2 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CASR	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Hypocalciuric hypercalcemia, type I, 145980 Tags
Amber Amber List (moderate evidence)	CCDC186	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes failure to thrive and developmental delay Tags watchlist
Amber Amber List (moderate evidence)	CCDC88A	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes PEHO syndrome Tags
Amber Amber List (moderate evidence)	CD96	5 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes C syndrome, 211750 Tags
Amber Amber List (moderate evidence)	CDC42BPB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes CDC42BPB-related Neurodevelopmental Disorder Central hypotonia Global developmental delay Intellectual disability Seizures Autistic behavior Behavioral abnormality Tags
Amber Amber List (moderate evidence)	CDK16	3 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Amber Phenotypes Intellectual disability, MONDO:0001071 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	CDK9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Abnormality of vision Congenital cataract Iris coloboma Abnormal heart morphology Choanal atresia Abnormality of the ear Preauricular skin tag Hearing impairment Abnormality of the genitourinary system Abnormality of limbs Abnormality of the vertebrae Abnormality of nervous system morphology Seizures Tags gene-checked watchlist
Amber Amber List (moderate evidence)	CDKN1C	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes IMAGE syndrome, 614732 ntrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies Tags
Amber Amber List (moderate evidence)	CEP63	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes ?Seckel syndrome 6 614728 Developmental dyslexia Tags
Amber Amber List (moderate evidence)	CHD1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Pilarowski-Bjornsson syndrome, MIM#617682 Tags
Amber Amber List (moderate evidence)	CHL1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes verbal function and developmental delay Tags cnv
Amber Amber List (moderate evidence)	CHRM1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental delay intellectual disability, MONDO:0001071 autism Tags watchlist
Amber Amber List (moderate evidence)	CHST14	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	CLCN2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Leukoencephalopathy with ataxia, OMIM:615651 Tags
Amber Amber List (moderate evidence)	CLCN6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CLDN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Leukodystrophy, hypomyelinating, 22, OMIM:619328 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CLEC16A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes severe neurodevelopmental disorder including microcephaly, brain atrophy, corpus callosum dysgenesis, and growth retardation Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	CNOT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	CNPY3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy, early infantile, 60 (MIM 617929) Tags
Amber Amber List (moderate evidence)	COG3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, OMIM:620546 Tags
Amber Amber List (moderate evidence)	COPB1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Baralle-Macken syndrome, OMIM:619255 Severe intellectual disability Cataracts Variable microcephaly Tags watchlist
Amber Amber List (moderate evidence)	COQ9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	COX11	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275 Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	COX7B	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 BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	CPSF3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 Tags
Amber Amber List (moderate evidence)	CRBN	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 2 607417 Tags watchlist
Amber Amber List (moderate evidence)	CSTF2	5 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber Amber List (moderate evidence)	CTC1	7 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, OMIM:612199 Tags
Amber Amber List (moderate evidence)	CYP27A1	5 reviews 2 green	Other - please specify in evaluation comments	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Cerebrotendinous xanthomatosis 213700 Tags watchlist
Amber Amber List (moderate evidence)	CYP2U1	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes HEREDITARY SPASTIC PARAPLEGIA Tags
Amber Amber List (moderate evidence)	DAGLA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	DALRD3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Developmental and epileptic encephalopathy 86, # 618910 Tags
Amber Amber List (moderate evidence)	DDOST	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR CDG1R Tags
Amber Amber List (moderate evidence)	DDX53	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 Amber Tags deletions promoter
Amber Amber List (moderate evidence)	DENND5A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Epileptic encephalopathy, early infantile, 49 617281 Tags
Amber Amber List (moderate evidence)	DENND5B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes DENND5B associated neurodevelopmental disorder Tags Q2_24_NHS_review Q2_24_promote_green
Amber Amber List (moderate evidence)	DHX32	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, spastic diplegia, dystonia, brain abnormalities Tags
Amber Amber List (moderate evidence)	DHX9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	DIP2B	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, FRA12A type, 136630 MENTAL RETARDATION, FRA12A TYPE Tags nucleotide-repeat-expansion
Amber Amber List (moderate evidence)	DLAT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Pyruvate dehydrogenase E2 deficiency, 245348 Tags treatable watchlist
Amber Amber List (moderate evidence)	DLG1	3 reviews 2 red	Not set	Sources Expert Review Amber Tags microdeletion microduplication watchlist
Amber Amber List (moderate evidence)	DLG2	3 reviews 2 red	Not set	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	DOCK8	7 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 2, OMIM:614113 Tags
Amber Amber List (moderate evidence)	DONSON	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, short stature, and limb abnormalities (MIM 617604) Microcephaly, short stature, and limb abnormalities 617604 Microcephaly-micromelia syndrome (MIM 251230) Microcephaly-micromelia syndrome 251230 Tags watchlist
Amber Amber List (moderate evidence)	DPH2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diphthamide-deficiency syndrome Tags
Amber Amber List (moderate evidence)	DPM3	6 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O Tags watchlist
Amber Amber List (moderate evidence)	DPYSL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071 Aplasia/Hypoplasia of the corpus callosum, HP:0007370 Tags
Amber Amber List (moderate evidence)	DROSHA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Seizures Cerebral white matter atrophy Abnormality of the corpus callosum Abnormality of movement Stereotypic behavior Abnormality of head or neck Short foot Tags gene-checked locus-type-rna-micro
Amber Amber List (moderate evidence)	DYNC1I2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492 Tags watchlist
Amber Amber List (moderate evidence)	EEF1B2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags deletions watchlist
Amber Amber List (moderate evidence)	EFNB1	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 Amber Victorian Clinical Genetics Services Phenotypes Craniofrontonasal dysplasia, OMIM:304110 Tags
Amber Amber List (moderate evidence)	EIF4A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	EMG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Bowen-Conradi syndrome, 211180 Tags watchlist
Amber Amber List (moderate evidence)	EPB41L1	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Mental retardation, autosomal dominant 11 614257 Tags watchlist
Amber Amber List (moderate evidence)	EPHA7	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability, MONDO:0001071 Delayed speech and language development Behavioral abnormality Tags watchlist
Amber Amber List (moderate evidence)	ERGIC3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 Tags watchlist
Amber Amber List (moderate evidence)	ERI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes intellectual disability, MONDO:0001071 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ESAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	EXOC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Abnormality of the face Abnormality of brain morphology Tags
Amber Amber List (moderate evidence)	EXOC7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes brain atrophy seizures developmental delay microcephaly Tags watchlist
Amber Amber List (moderate evidence)	EXOSC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia, type 1C, MIM#616081 Tags founder-effect watchlist
Amber Amber List (moderate evidence)	FAAH2	7 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Tags watchlist
Amber Amber List (moderate evidence)	FAM120C	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 Amber Tags watchlist
Amber Amber List (moderate evidence)	FANCA	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	FANCC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	FANCD2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	FANCE	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	FANCF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Fanconi anemia, complementation group F, 603467 Tags
Amber Amber List (moderate evidence)	FANCG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group G, 614082 Tags
Amber Amber List (moderate evidence)	FANCI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Fanconi anemia, complementation group I, 609053 Tags
Amber Amber List (moderate evidence)	FARSB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Rajab syndrome, MIM#613658 interstitial lung disease brain calcifications microcephaly intellectual disability Tags
Amber Amber List (moderate evidence)	FDFT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Squalene synthase deficiency, 618156 Tags watchlist
Amber Amber List (moderate evidence)	FEM1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber Amber List (moderate evidence)	FGF13	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy Intellectual disability Infantile-onset seizures Tags
Amber Amber List (moderate evidence)	FGF14	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 27 609307 Tags
Amber Amber List (moderate evidence)	FGFR2	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome Apert syndrome Crouzon syndrome Beare-Stevenson Cutis Gyrata syndrome Tags
Amber Amber List (moderate evidence)	FIBP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Thauvin-Robinet-Faivre syndrome, 617107 Tags
Amber Amber List (moderate evidence)	FICD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert review Expert Review Amber Phenotypes Neonatal diabetes Neonatal insulin-dependent diabetes mellitus, HP:0000857 severe neurodevelopmental delay, HP:0012758 skeletal abnormalities. Tags watchlist
Amber Amber List (moderate evidence)	FOXP4	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder multiple congenital abnormalities Tags gene-checked
Amber Amber List (moderate evidence)	FOXR1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Global developmental delay, HP:0001263 microcephaly, MONDO:0001149 Brain atrophy, HP:0012444 Tags
Amber Amber List (moderate evidence)	FRAS1	5 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Fraser syndrome 1 219000 Tags
Amber Amber List (moderate evidence)	FREM2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	FRRS1L	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Epileptic encephalopathy, early infantile, 37 (MIM 616981) Epileptic encephalopathy, early infantile, 37, 616981 Tags
Amber Amber List (moderate evidence)	FRY	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags watchlist
Amber Amber List (moderate evidence)	FRYL	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags watchlist
Amber Amber List (moderate evidence)	FTO	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Growth retardation, developmental delay, facial dysmorphism 612938 Tags watchlist
Amber Amber List (moderate evidence)	FUK	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Seizures Generalized hypotonia Feeding difficulties Intellectual disability Global developmental delay Congenital disorder of glycosylation with defective fucosylation 2, 618324 Tags new-gene-name watchlist
Amber Amber List (moderate evidence)	GAN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Giant axonal neuropathy-1, OMIM:256850 Tags Q2_24_NHS_review Q2_24_promote_green
Amber Amber List (moderate evidence)	GATA6	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Atrioventricular septal defect 5, 614474 Atrial septal defect 9, 614475 Pancreatic agenesis and congenital heart defects, 600001 Persistent truncus arteriosus, 217095 Tetralogy of Fallot, 187500 Tags
Amber Amber List (moderate evidence)	GBA	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Tags new-gene-name
Amber Amber List (moderate evidence)	GBA2	9 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spastic paraplegia 46, autosomal recessive, 614409 Tags
Amber Amber List (moderate evidence)	GEMIN4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 Tags founder-effect
Amber Amber List (moderate evidence)	GIGYF1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorder Tags
Amber Amber List (moderate evidence)	GJB1	8 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 Amber Radboud University Medical Center, Nijmegen Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 Tags
Amber Amber List (moderate evidence)	GJB3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Erythrokeratodermia variabilis et progressiva, 133200 Deafness, autosomal dominant 2B, 612644 Deafness, autosomal recessive Deafness, autosomal dominant, with peripheral neuropathy Deafness, digenic, GJB2/GJB3, 220290 Tags
Amber Amber List (moderate evidence)	GLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Developmental and epileptic encephalopathy 71, OMIM:618328 ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 Tags STR watchlist watchlist_moi
Amber Amber List (moderate evidence)	GMNN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Meier-Gorlin syndrome 6, 616835 Tags watchlist
Amber Amber List (moderate evidence)	GNAI2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability Tags
Amber Amber List (moderate evidence)	GNE	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Sialuria, MIM#269921 Tags
Amber Amber List (moderate evidence)	GOT2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epileptic encephalopathy, early infantile, 82, OMIM:618721 Developmental and epileptic encephalopathy, 82, MONDO:0032880 Tags treatable
Amber Amber List (moderate evidence)	GPSM2	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Chudley-McCullough syndrome, 604213 Tags
Amber Amber List (moderate evidence)	GSS	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Glutathione synthetase deficiency Hemolytic anemia due to glutathione synthetase deficiency 231900 Tags
Amber Amber List (moderate evidence)	GSX2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 2 618646 Intellectual disability Dystonia Spastic tetra paresis Tags
Amber Amber List (moderate evidence)	GTF3C3	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Global developmental delay Intellectual disability Seizures Tags watchlist
Amber Amber List (moderate evidence)	HADHB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Trifunctional protein deficiency, MIM#609015 Tags
Amber Amber List (moderate evidence)	HARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome mild-severe intellectual disability Tags new-gene-name
Amber Amber List (moderate evidence)	HAX1	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags watchlist
Amber Amber List (moderate evidence)	HEATR3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Anemia Thrombocytopenia Growth delay Short stature Abnormality of the skeletal system Abnormality of finger Abnormality of the thumb Intellectual disability Obesity Abnormality of the face Tags
Amber Amber List (moderate evidence)	HEATR5B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber Amber List (moderate evidence)	HINT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 Tags
Amber Amber List (moderate evidence)	HIRA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags watchlist
Amber Amber List (moderate evidence)	HIST1H4I	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Tessadori-van Haaften neurodevelopmental syndrome 4, OMIM:619951 Tessadori-Van Haaften neurodevelopmental syndrome 4, MONDO:0031000 Tags new-gene-name
Amber Amber List (moderate evidence)	HIST1H4J	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ?Tessadori-van Haaften neurodevelopmental syndrome 2 , OMIM:619759 Tags watchlist
Amber Amber List (moderate evidence)	HNF1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Renal cysts and diabetes syndrome, 137920 Diabetes mellitus, noninsulin-dependent, 125853 {Renal cell carcinoma}, 144700 Tags
Amber Amber List (moderate evidence)	HNRNPD	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags watchlist
Amber Amber List (moderate evidence)	HS2ST1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features congenital anomalies Tags watchlist
Amber Amber List (moderate evidence)	HSPG2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Schwartz-Jampel syndrome, type 1, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717 Tags
Amber Amber List (moderate evidence)	HTT	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Lopes-Maciel-Rodan syndrome, OMIM:617435 LOMARS Tags watchlist
Amber Amber List (moderate evidence)	IFT27	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Bardet-Biedl syndrome 19, MIM#615996 Tags
Amber Amber List (moderate evidence)	IFT43	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Cranioectodermal dysplasia 3, 614099 Tags
Amber Amber List (moderate evidence)	IL1RAPL2	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Literature Phenotypes X-linked non-syndromic mental retardation loci Tags deletions
Amber Amber List (moderate evidence)	INPP4A	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability Seizures Tags
Amber Amber List (moderate evidence)	IQSEC1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Central hypotonia Global developmental delay Intellectual disability Behavioral abnormality Short stature Intellectual developmental disorder with short stature and behavioral abnormalities, 618687 Tags watchlist
Amber Amber List (moderate evidence)	IREB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Tags watchlist
Amber Amber List (moderate evidence)	ISCA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Multiple mitochondrial dysfunctions syndrome 4, 616370 Tags founder-effect
Amber Amber List (moderate evidence)	ITFG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental abnormality Intellectual disability Developmental regression Ataxia Tags
Amber Amber List (moderate evidence)	ITGA7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	JAKMIP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber Amber List (moderate evidence)	JMJD1C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Intellectual disability Autism Tags watchlist
Amber Amber List (moderate evidence)	KATNB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 Tags
Amber Amber List (moderate evidence)	KCNA1	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Episodic ataxia/myokymia syndrome, OMIM:160120 Tags
Amber Amber List (moderate evidence)	KCNA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	KCNC3	6 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Spinocerebellar ataxia 13, OMIM:605259 MONDO:0011529 Tags
Amber Amber List (moderate evidence)	KCNH5	5 reviews 2 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 112, OMIM:620537 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	KCNK4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Literature Phenotypes Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome, 618381 Tags watchlist
Amber Amber List (moderate evidence)	KIRREL3	11 reviews 3 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, autosomal dominant 4, OMIM:612581 intellectual disability, autosomal dominant 4, MONDO:0012947 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	KLHL15	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Mental retardation, X-linked 103, 300982 MRX103 Intellectual disability Tags deletions
Amber Amber List (moderate evidence)	KMT2B	7 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	LAMB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pierson syndrome, MIM#609049 Tags
Amber Amber List (moderate evidence)	LARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Perrault syndrome 4, OMIM:615300 Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021 Leukodystrophy Tags
Amber Amber List (moderate evidence)	LAS1L	5 reviews 1 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Wilson-Turner syndrome 309585 Tags watchlist
Amber Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	LGI3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	LINGO1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal recessive 64 (MIM 618103) Tags watchlist
Amber Amber List (moderate evidence)	LIPT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 Tags watchlist
Amber Amber List (moderate evidence)	LMAN2L	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Intellectual disability epilepsy Tags watchlist
Amber Amber List (moderate evidence)	LMBRD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Methylmalonic aciduria and homocystinuria, cblF type, 277380 Tags
Amber Amber List (moderate evidence)	LMNB2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Microcephaly 27, primary, autosomal dominant, OMIM:619180 Tags
Amber Amber List (moderate evidence)	LNPK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Generalized hypotonia Global developmental delay Intellectual disability Seizures Hypoplasia of the corpus callosum Abnormality of the cerebellum Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090 Tags watchlist
Amber Amber List (moderate evidence)	LRP5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Osteoporosis-pseudoglioma syndrome, 259770 Tags
Amber Amber List (moderate evidence)	LRRC32	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074 Tags founder-effect
Amber Amber List (moderate evidence)	LZTFL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Bardet-Biedl syndrome 17, MIM#615994 Tags
Amber Amber List (moderate evidence)	MAL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes developmental delay nystagmus progressive motor deterioration dysmyelination Tags
Amber Amber List (moderate evidence)	MAPK10	6 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Lennox-Gastaut syndrome LGS Epileptic Encephalopathy Epileptic Encephalopathy Lennox-Gastaut type Tags watchlist
Amber Amber List (moderate evidence)	MAPKAPK5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism Tags watchlist
Amber Amber List (moderate evidence)	MAST4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, MAST4-related Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MED12L	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Motor delay Delayed speech and language development Intellectual disability Behavioral abnormality Abnormality of the abdomen Seizures Abnormality of the corpus callosum Tags
Amber Amber List (moderate evidence)	MIR17HG	6 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Feingold syndrome 2, 614326 FS2 Brachydactyly with short stature and microcephaly Intellectual disability Tags deletions locus-type-rna-long-non-coding watchlist
Amber Amber List (moderate evidence)	MKL2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 Tags
Amber Amber List (moderate evidence)	MMGT1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags gene-checked
Amber Amber List (moderate evidence)	MPV17	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 Tags
Amber Amber List (moderate evidence)	MSL2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders autism Tags
Amber Amber List (moderate evidence)	MYH10	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Gene2Phenotype Phenotypes Neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 MYH10-related Multiple congenital anomalies Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	NAA20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes autosomal recessive developmental delay, intellectual disability, and microcephaly Tags
Amber Amber List (moderate evidence)	NAGS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes N-acetylglutamate synthase deficiency, 237310 Tags
Amber Amber List (moderate evidence)	NBAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Amber Amber List (moderate evidence)	NBN	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	NCAPD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Microcephaly 21, primary, autosomal recessive, OMIM #617983 Tags watchlist
Amber Amber List (moderate evidence)	NCAPG2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Khan-Khan-Katsanis syndrome, MIM# 618460 Tags
Amber Amber List (moderate evidence)	NDUFAF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex I deficiency, nuclear type 11, MIM#618234 Tags watchlist
Amber Amber List (moderate evidence)	NDUFAF2	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Leigh syndrome 256000 Mitochondrial complex I deficiency 252010 Tags
Amber Amber List (moderate evidence)	NDUFAF5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Mitochondrial complex 1 deficiency, 618238 Tags
Amber Amber List (moderate evidence)	NECAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Epileptic encephalopathy, early infantile 21, 615833 Tags
Amber Amber List (moderate evidence)	NEUROG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	NFIB	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Macrocephaly Macrocephaly, acquired, with impaired intellectual development, 618286 Tags Autism Spectrum Disorder watchlist
Amber Amber List (moderate evidence)	NHP2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Gene2Phenotype Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 Høyeraal-Hreidarsson syndrome Tags
Amber Amber List (moderate evidence)	NPHP3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Meckel syndrome 7, 267010 Tags
Amber Amber List (moderate evidence)	NR2F2	6 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Congenital heart defects, multiple types, 4, 615779 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	NT5C3A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 Tags
Amber Amber List (moderate evidence)	NUP107	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME Tags
Amber Amber List (moderate evidence)	NUP188	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Sandestig-Stefanova syndrome, 618804 Tags
Amber Amber List (moderate evidence)	NUP62	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Striatonigral degeneration, infantile, 271930 Intellectual disability Tags founder-effect
Amber Amber List (moderate evidence)	NUP85	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) Tags
Amber Amber List (moderate evidence)	NYX	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 Tags
Amber Amber List (moderate evidence)	PABPC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Expressive language delay Intellectual disability Behavioral abnormality Seizures Tags Q3_23_MOI Q3_23_phenotype Q3_23_promote_green
Amber Amber List (moderate evidence)	PAM16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, MIM#613320 Tags founder-effect watchlist
Amber Amber List (moderate evidence)	PARP6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability Epilepsy Microcephaly Tags watchlist
Amber Amber List (moderate evidence)	PAX1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Otofaciocervical syndrome 2, 615560 Tags
Amber Amber List (moderate evidence)	PDCD6IP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes microcephaly Intellectual disability Tags
Amber Amber List (moderate evidence)	PDE10A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Dyskinesia, limb and orofacial, infantile-onset, MIM#616921 Tags
Amber Amber List (moderate evidence)	PDE6D	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Joubert syndrome 22 - MIM 615665 Tags
Amber Amber List (moderate evidence)	PDP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pyruvate dehydrogenase phosphatase deficiency, MIM#608782 Tags
Amber Amber List (moderate evidence)	PHF14	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Literature NHS GMS Phenotypes Autism Tags
Amber Amber List (moderate evidence)	PIK3C2A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Oculoskeletodental syndrome, 618440 Tags
Amber Amber List (moderate evidence)	PIP5K1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PISD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes intellectual disability cataract microcephaly deafness skeletal dysplasia Tags watchlist
Amber Amber List (moderate evidence)	PJA1	5 reviews 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 Amber Phenotypes Craniofrontonasal syndrome CFNS Intellectual disability Tags founder-effect
Amber Amber List (moderate evidence)	PLEKHG2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Literature Phenotypes Leukodystrophy and acquired microcephaly with or without dystonia, 616763 Tags watchlist
Amber Amber List (moderate evidence)	PLXNA2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Phenotypes Intellectual disability, MONDO:0001071 Abnormality of the face Failure to thrive Abnormal heart morphology Tags watchlist
Amber Amber List (moderate evidence)	PMPCA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 2 (MIM 213200) Tags
Amber Amber List (moderate evidence)	PNPO	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 Neonatal epileptic encephalopathy Global developmental delay Tags treatable
Amber Amber List (moderate evidence)	POMK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249 Tags
Amber Amber List (moderate evidence)	POU1F1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 Tags
Amber Amber List (moderate evidence)	PPP1R3F	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PRKACB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Cardioacrofacial dysplasia 2, OMIM:619143 Tags
Amber Amber List (moderate evidence)	PRKD1	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital heart defects and ectodermal dysplasia 617364 Tags
Amber Amber List (moderate evidence)	PRODH	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hyperprolinemia, type I, OMIM:239500 {Schizophrenia, susceptibility to, OMIM:4}, 600850 Tags
Amber Amber List (moderate evidence)	PRRT2	7 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Epilepsy mental retardation movement disorders paroxysmal disorder Autosomal recessive mental retardation Tags watchlist
Amber Amber List (moderate evidence)	PSMB8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags
Amber Amber List (moderate evidence)	PSMC3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354 neurodevelopmental disorder, MONDO:0700092 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PSMC5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber Amber List (moderate evidence)	PTH1R	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Metaphyseal chondrodysplasia, Murk Jansen type, 156400 Chondrodysplasia, Blomstrand type, 215045 Eiken syndrome, 600002 Failure of tooth eruption, primary, 125350 Tags
Amber Amber List (moderate evidence)	PTHLH	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Humoral hypercalcemia of malignancy Brachydactyly, type E2, 613382 Tags
Amber Amber List (moderate evidence)	PTPA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber Amber List (moderate evidence)	PTRH2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (MIM 616263) Tags watchlist
Amber Amber List (moderate evidence)	RAB14	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber Amber List (moderate evidence)	RAB5C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	RAD51	5 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group R, OMIM:617244 Tags
Amber Amber List (moderate evidence)	RAP1B	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	RAP1GDS1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability dysmorphic features Tags founder-effect
Amber Amber List (moderate evidence)	RAX	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microphthalmia, isolated 3, OMIM:611038 isolated microphthalmia 3, MONDO:0012604 Tags
Amber Amber List (moderate evidence)	RBL2	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Brunet-Wagner neurodevelopmental syndrome, OMIM:619690 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	RBPJ	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Adams-Oliver syndrome 3, 614814 Tags
Amber Amber List (moderate evidence)	RHEB	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Victorian Clinical Genetics Services Phenotypes short stature, macrocephaly, intellectual disability and autism spectrum disorder Tags watchlist
Amber Amber List (moderate evidence)	RIC1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes CATIFA syndrome 618761 Cleft lip cataract tooth abnormality intellectual disability facial dysmorphism ADHD Tags founder-effect watchlist
Amber Amber List (moderate evidence)	RMRP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Cartilage-hair hypoplasia, 250250 Metaphyseal dysplasia without hypotrichosis, 250460 Anauxetic dysplasia, 607095 Tags
Amber Amber List (moderate evidence)	RNF220	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Phenotypes Intellectual disability, MONDO:0001071 Tags
Amber Amber List (moderate evidence)	RNPC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 Tags watchlist
Amber Amber List (moderate evidence)	RNU4ATAC	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags locus-type-rna-small-nuclear
Amber Amber List (moderate evidence)	RPS23	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Brachycephaly, trichomegaly, and developmental delay 617412 Tags watchlist
Amber Amber List (moderate evidence)	RSPRY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585 Tags watchlist
Amber Amber List (moderate evidence)	RUSC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mental retardation, autosomal recessive 61 617773 Tags
Amber Amber List (moderate evidence)	RYR2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Tags
Amber Amber List (moderate evidence)	SACS	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 Autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS Intellectual disability Tags
Amber Amber List (moderate evidence)	SALL1	5 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480 Townes-Brocks syndrome 1, 107480 TBS Tags
Amber Amber List (moderate evidence)	SCN1B	8 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Developmental and epileptic encephalopathy 52, OMIM:617350 Developmental and epileptic encephalopathy, 52, MONDO:0033361 Tags
Amber Amber List (moderate evidence)	SEC31A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 Tags
Amber Amber List (moderate evidence)	SEPHS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	SGSM3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags founder-effect
Amber Amber List (moderate evidence)	SHQ1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SHROOM4	4 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Stocco dos Santos X-linked mental retardation syndrome, 300434 Intellectual disability Tags
Amber Amber List (moderate evidence)	SLC25A26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY Tags
Amber Amber List (moderate evidence)	SLC25A38	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Tags
Amber Amber List (moderate evidence)	SLC26A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Diastrophic dysplasia, 222600 Atelosteogenesis II, 256050 Achondrogenesis Ib, 600972 Epiphyseal dysplasia, multiple, 4, 226900 Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 De la Chapelle dysplasia, 256050 Tags
Amber Amber List (moderate evidence)	SLC27A4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Ichthyosis prematurity syndrome, 608649 Tags
Amber Amber List (moderate evidence)	SLC2A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Diabetes mellitus, noninsulin-dependent}, 135853 Fanconi-Bickel syndrome, 227810 Tags
Amber Amber List (moderate evidence)	SLC30A9	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Birk-Landau-Perez syndrome, OMIM:617595 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	SLC35A3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Arthrogryposis, mental retardation, and seizures (MIM 615553) Tags watchlist
Amber Amber List (moderate evidence)	SLC35B2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Abnormality of the skeletal system Short long bone Short stature Abnormality of epiphysis morphology Scoliosis Multiple joint dislocation Global develpmental delay Intellectual disability CNS hypomyelination Abnormality of the corpus callosum Cerebral atrophy Abnormality of the amniotic fluid Tags
Amber Amber List (moderate evidence)	SLC35D1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Schneckenbecken dysplasia, 269250 Tags
Amber Amber List (moderate evidence)	SLC39A13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 Tags
Amber Amber List (moderate evidence)	SLC45A1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder with neuropsychiatric features, 617532 Tags
Amber Amber List (moderate evidence)	SLC4A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Ovalocytosis Spherocytosis, type 4, 612653 [Malaria, resistance to], 611162 Renal tubular acidosis, distal, AD, 179800 Renal tubular acidosis, distal, AR, 611590 [Blood group, Diego], 110500 [Blood group, Waldner], 112010 [Blood group, Wright], 112050 [Blood group, Froese], 601551 [Blood group, Swann], 601550 Tags
Amber Amber List (moderate evidence)	SLC4A11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Corneal endothelial dystrophy 2, autosomal recessive, 217700 Corneal endothelial dystrophy and perceptive deafness, 217400 Corneal dystrophy, Fuchs endothelial, 4, 613268 Tags
Amber Amber List (moderate evidence)	SLC5A5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	SLC5A7	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143 Tags watchlist
Amber Amber List (moderate evidence)	SLC9A7	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Intellectual developmental disorder, X-linked 108, OMIM:301024 Intellectual developmental disorder, X-linked 108, MONDO:0026723 Tags watchlist
Amber Amber List (moderate evidence)	SMAD3	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Loeys-Dietz syndrome, type 3, 613795 Tags
Amber Amber List (moderate evidence)	SMARCD2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Specific granule deficiency 2, 617475 (includes global developmental delay in some patients) Tags watchlist
Amber Amber List (moderate evidence)	SMG9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Heart and brain malformation syndrome, 616920 Tags watchlist
Amber Amber List (moderate evidence)	SNF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	SOX3	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 Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252 Tags
Amber Amber List (moderate evidence)	SRGAP3	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes 3p- syndrome, MIM:613792 (includes intellectual disability) Tags microdeletion watchlist
Amber Amber List (moderate evidence)	SRP54	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Syndromic neutropenia with Shwachman-Diamond-like features Tags watchlist
Amber Amber List (moderate evidence)	SRSF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SUCLA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 Tags
Amber Amber List (moderate evidence)	TAB2	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Congenital heart defects, nonsyndromic, 2, OMIM:614980 Tags
Amber Amber List (moderate evidence)	TAF13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Other Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 60 617432 Tags watchlist
Amber Amber List (moderate evidence)	TAF1C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Spasticity Strabismus Seizures Abnormality of nervous system morphology Tags
Amber Amber List (moderate evidence)	TBC1D2B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323 neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148 Tags gene-checked Q2_24_NHS_review Q2_24_promote_green
Amber Amber List (moderate evidence)	TBC1D7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000 Tags watchlist
Amber Amber List (moderate evidence)	TBX1	6 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 22q11.2 deletion syndrome, Orphanet:567 (includes developmental delay) DiGeorge syndrome, 188400 (includes mild to moderate learning difficulties) Velocardiofacial syndrome, 192430 (includes learning disability and mental retardation) Tags watchlist
Amber Amber List (moderate evidence)	TEFM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 58, OMIM:620451 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	TERT	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags
Amber Amber List (moderate evidence)	TGFB1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213 Tags watchlist_moi
Amber Amber List (moderate evidence)	THRB	4 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes compromised intellectual development Tags
Amber Amber List (moderate evidence)	TKFC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Triokinase and FMN cyclase deficiency syndrome, 618805 Tags watchlist
Amber Amber List (moderate evidence)	TKT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Short stature, developmental delay, and congenital heart defects, 617044 Tags watchlist
Amber Amber List (moderate evidence)	TMEM231	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 20, 614970 (includes developmental delay) Tags
Amber Amber List (moderate evidence)	TMEM63B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TNIK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal recessive 54, 617028 Tags
Amber Amber List (moderate evidence)	TNR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Spastic para- or tetraparesis Axial muscular hypotonia Intellectual disability Transient opisthotonus Tags
Amber Amber List (moderate evidence)	TOMM70	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Severe anaemia, lactic acidosis developmental delay white matter abnormalities Tags
Amber Amber List (moderate evidence)	TRAK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 68, 618201 Tags
Amber Amber List (moderate evidence)	TRAPPC10	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Neurodevelopmental disorder with microcephaly, short stature, and speech delay, OMIM:620027 Tags watchlist
Amber Amber List (moderate evidence)	TRAPPC11	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes myopathy and intellectual disability Tags
Amber Amber List (moderate evidence)	TRAPPC2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Tags
Amber Amber List (moderate evidence)	TRPC5	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Amber Phenotypes TRPC5-related neurodevelopmental disorder Tags
Amber Amber List (moderate evidence)	TSEN15	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Pontocerebellar hypoplasia, type 2F, OMIM:617026 Tags watchlist
Amber Amber List (moderate evidence)	TSPOAP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dystonia, intellectual disability and cerebellar atrophy Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TTI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder with microcephaly Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	TUBGCP2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lissencephaly pachygyria subcortical band heterotopia microcephaly intellectual disability Tags gene-checked watchlist
Amber Amber List (moderate evidence)	TUBGCP4	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 mildly delayed development Tags
Amber Amber List (moderate evidence)	TWIST2	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Barber-Say syndrome, 209885 (includes mental retardation in some patients) Focal facial dermal dysplasia 3, Setleis type, 227260 (can include intellectual disability and developmental delay) Tags
Amber Amber List (moderate evidence)	U2AF2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	UBE3C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities, OMIM:620270 Tags
Amber Amber List (moderate evidence)	UFC1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes global developmental delay with progressive microcephaly Neurodevelopmental disorder with spasticity and poor growth, 618076 Tags watchlist
Amber Amber List (moderate evidence)	UPB1	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Beta-ureidopropionase deficiency, 613161 (can include mental retardation, developmental delay) Tags
Amber Amber List (moderate evidence)	UPF1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental disorders Tags
Amber Amber List (moderate evidence)	USP27X	3 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Mental retardation 105, 300984 Intellectual Disability X-linked intellectual disability XLID Tags
Amber Amber List (moderate evidence)	VCP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	VIPAS39	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Amber Amber List (moderate evidence)	VPS33B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Tags
Amber Amber List (moderate evidence)	VPS50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber Amber List (moderate evidence)	VPS51	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Pontocerebellar hypoplasia, type 13, MIM# 618606 Tags
Amber Amber List (moderate evidence)	WASHC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mental retardation, autosomal recessive 43, 615817 Tags
Amber Amber List (moderate evidence)	WASHC5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Spastic paraplegia 8, autosomal dominant, 603563 Ritscher-Schinzel syndrome, 220210 Tags
Amber Amber List (moderate evidence)	WDR11	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Intellectual disability, MONDO:0001071 Microcephaly, MONDO:0001149 Short stature,HP:0004322 Tags watchlist
Amber Amber List (moderate evidence)	XPA	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes mental retardation progressive intellectual impariment Tags
Amber Amber List (moderate evidence)	YARS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate C 608323 Intellectual disability deafness nystagmus liver dysfunction Tags new-gene-name watchlist
Amber Amber List (moderate evidence)	ZBTB11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal recessive 69, 618383 Intellectual disability Tags watchlist
Amber Amber List (moderate evidence)	ZBTB47	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO 0700092 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ZC3H14	5 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mental retardation, autosomal recessive 56, 617125 intellectual disability Tags
Amber Amber List (moderate evidence)	ZFHX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes syndromic intellectual disability Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	ZFP57	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diabetes mellitus, transient neonatal, 1, 601410 Tags
Amber Amber List (moderate evidence)	ZFX	6 reviews 2 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 Amber Phenotypes Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	ZNF148	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 Tags
Amber Amber List (moderate evidence)	ZNF407	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability Tags
Amber Amber List (moderate evidence)	ZNF668	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes DNA damage repair defect microcephaly growth deficiency severe global developmental delay brain malformation facial dysmorphism Tags watchlist
Amber Amber List (moderate evidence)	ZNFX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 91 and hyperinflammation, OMIM:619644 immunodeficiency 91 and hyperinflammation, MONDO:0030491 Tags Q1_24_NHS_review Q1_24_promote_green
Red Red List (low evidence)	A2ML1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Tags
Red Red List (low evidence)	ABCB11	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cholestasis, progressive familial intrahepatic 2, 601847 Cholestasis, benign recurrent intrahepatic, 2, 605479 Tags
Red Red List (low evidence)	ABCB7	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA Tags
Red Red List (low evidence)	ABCC6	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Pseudoxanthoma elasticum, 264800 Pseudoxanthoma elasticum, forme fruste, 177850 Arterial calcification, generalized, of infancy, 2, 614473 Tags
Red Red List (low evidence)	ABCC8	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ABCG5	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ABHD12	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 Tags
Red Red List (low evidence)	ACAN	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondyloepiphyseal dysplasia, Kimberley type, 608361 Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 Tags
Red Red List (low evidence)	ACE2	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	ACIN1	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	ACOT9	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	ACOX2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Bile acid synthesis defect, congenital, 6 - 617308 Tags
Red Red List (low evidence)	ACSF3	3 reviews 3 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Combined malonic and methylmalonic aciduria, 614265 Tags
Red Red List (low evidence)	ADCY5	7 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dyskinesia, familial, with facial myokymia, 606703 Tags
Red Red List (low evidence)	ADGRG4	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ADGRG6	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Lethal congenital contracture syndrome 9, 616503 Tags
Red Red List (low evidence)	ADGRV1	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Febrile seizures, familial, 4, 604352 Usher syndrome, type 2C, 605472 Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 Tags
Red Red List (low evidence)	ADRA2B	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	AFG3L2	7 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Optic atrophy 12, OMIM:618977 Spinocerebellar ataxia 28, OMIM:610246 Spastic ataxia 5, autosomal recessive, OMIM:614487 Tags
Red Red List (low evidence)	AFP	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AGK	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	AGL	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IIIa, 232400 Glycogen storage disease IIIb, 232400 Tags
Red Red List (low evidence)	AGPAT2	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Lipodystrophy, congenital generalized, type 1, 608594 Tags
Red Red List (low evidence)	AGT	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AGTR2	3 reviews 3 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 88, 300852 X-LINKED MENTAL RETARDATION 88 Tags
Red Red List (low evidence)	AK1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 Tags
Red Red List (low evidence)	AKAP17A	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	AKAP4	3 reviews 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 Red Tags
Red Red List (low evidence)	AKAP6	1 review 1 red	Unknown	Sources Literature Victorian Clinical Genetics Services Phenotypes Intellectual Disability Tags de novo
Red Red List (low evidence)	AKR1C2	3 reviews 3 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes 46XY sex reversal 8 614279 Tags
Red Red List (low evidence)	ALDH1A3	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Microphthalmia, isolated 8 615113 Tags
Red Red List (low evidence)	ALDOB	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Fructose intolerance, 229600 Tags
Red Red List (low evidence)	ALG2	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Congenital disorder of glycosylation, type Ii 607906 Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 Tags
Red Red List (low evidence)	ALS2	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100 Primary lateral sclerosis, juvenile, OMIM:606353 Spastic paralysis, infantile onset ascending, OMIM:607225 Tags
Red Red List (low evidence)	ALX1	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Frontonasal dysplasia 3 613456 Tags
Red Red List (low evidence)	ANKH	5 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Craniometaphyseal dysplasia, 123000Chondrocalcinosis 2, 118600 CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE (CMDJ) Tags
Red Red List (low evidence)	ANO10	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 10 613728 Tags
Red Red List (low evidence)	ANO3	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dystonia 24 615034 Tags
Red Red List (low evidence)	AP5Z1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic paraplegia 48, autosomal recessive, OMIM:613647 Tags
Red Red List (low evidence)	APTX	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 ATAXIA WITH OCULOMOTOR APRAXIA 1 Tags
Red Red List (low evidence)	AQP7	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AR	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Androgen insensitivity, OMIM:300068 Androgen insensitivity, partial, with or without breast cancer, OMIM:312300 Hypospadias 1, X-linked, OMIM:300633 Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 Tags
Red Red List (low evidence)	ARHGAP31	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Adams-Oliver syndrome 1 100300 Tags
Red Red List (low evidence)	ARHGAP36	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ARHGAP6	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ARHGEF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 Tags
Red Red List (low evidence)	ARHGEF4	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes developmental delay, ADHD, Aspergers' syndrome and other neurobehavioral abnormalities Tags
Red Red List (low evidence)	ARHGEF6	7 reviews 2 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked 46, OMIM:300436 Tags
Red Red List (low evidence)	ARIH1	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ARSF	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ASB12	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ASCL1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ASMT	3 reviews 3 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags Pseudoautosomal region 1
Red Red List (low evidence)	ASMTL	3 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	ASPH	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ATCAY	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ataxia, cerebellar, Cayman type 601238 Tags founder-effect
Red Red List (low evidence)	ATL1	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 3A, autosomal dominant, 182600 Hereditary spastic paraplegia Intellectual disability Tags
Red Red List (low evidence)	ATP2A2	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Darier disease 124200 Tags
Red Red List (low evidence)	ATP2B3	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes ?Spinocerebellar ataxia, X-linked 1 302500 Tags
Red Red List (low evidence)	ATP2C2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes language impairment, HP:0002463 Tags
Red Red List (low evidence)	ATP6V1B1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Renal tubular acidosis with deafness, 267300 Tags
Red Red List (low evidence)	ATP7B	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Wilson disease 277900 Tags
Red Red List (low evidence)	ATP8B1	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 Cholestasis, benign recurrent intrahepatic, 243300 Cholestasis, intrahepatic, of pregnancy, 1, 147480 Tags
Red Red List (low evidence)	ATXN1	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN10	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN2	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN3	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Machado-Joseph disease, OMIM:109150 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATXN3L	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ATXN7	4 reviews 1 green 1 red	Other	Sources Expert Review Red Other Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	AVP	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AVPR2	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	AWAT2	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	BDP1	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	BEAN1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 31 117210 Tags currently-ngs-unreportable nucleotide-repeat-expansion structural-variant
Red Red List (low evidence)	BFSP2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 12, multiple types, 611597 Tags
Red Red List (low evidence)	BGN	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes X-Linked Spondyloepimetaphyseal Dysplasia Severe syndromic form of thoracic aortic aneurysm & dissection Tags
Red Red List (low evidence)	BHLHA9	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 Tags
Red Red List (low evidence)	BICD2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 Tags
Red Red List (low evidence)	BIN1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	BMP15	3 reviews 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 Red Phenotypes Ovarian dysgenesis 2 300510 Premature ovarian failure 4 300510 Tags
Red Red List (low evidence)	BMPER	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	BMPR1B	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Acromesomelic dysplasia, Demirhan type, OMIM:609441 Brachydactyly, type A1, D, OMIM:616849 Brachydactyly, type A2, OMIM:112600 Tags
Red Red List (low evidence)	BPIFB6	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 Tags
Red Red List (low evidence)	BRCA1	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Breast-ovarian cancer, familial, 1} 604370 autosomal dominant {Pancreatic cancer, susceptibility to, 4} 614320 autosomal dominant intellectual disability recessive Tags
Red Red List (low evidence)	BRCA2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Tags
Red Red List (low evidence)	BRIP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Red Red List (low evidence)	BTK	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Agammaglobulinemia and isolated hormone deficiency 307200 Agammaglobulinemia, X-linked 1 300755 Tags
Red Red List (low evidence)	C19orf12	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Spastic paraplegia 43, autosomal recessive 615043 Neurodegeneration with brain iron accumulation 4 614298 Tags
Red Red List (low evidence)	C20orf24	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, OMIM:616994 Tags new-gene-name
Red Red List (low evidence)	C2orf71	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Retinitis pigmentosa 54, 613428 Tags new-gene-name
Red Red List (low evidence)	C3orf58	1 review	Not set	Sources Victorian Clinical Genetics Services Tags new-gene-name
Red Red List (low evidence)	C4orf26	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Amelogenesis imperfecta type, IIA4, 614832 Tags new-gene-name
Red Red List (low evidence)	C9orf72	4 reviews 1 green 1 red	Other	Sources Expert Review Red Literature Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	CA5A	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 Tags
Red Red List (low evidence)	CACNA1F	3 reviews 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 Red Victorian Clinical Genetics Services Phenotypes Aland Island eye disease 300600 XL Cone-rod dystrophy, X-linked, 3 300476 XLR Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 Tags
Red Red List (low evidence)	CACNA1H	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hyperaldosteronism, familial, type IV 617027 {Epilepsy, childhood absence, susceptibility to, 6} 611942 {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 Tags
Red Red List (low evidence)	CACNA1S	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Hypokalemic periodic paralysis, type 1, 170400 {Malignant hyperthermia susceptibility 5}, 601887 {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 Tags
Red Red List (low evidence)	CACNA2D3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CACNG2	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Mental retardation, autosomal dominant 10 614256 Tags
Red Red List (low evidence)	CANT1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CAP1	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CAPN10	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes {Diabetes mellitus, noninsulin-dependent 1} 601283 Tags
Red Red List (low evidence)	CCDC103	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 17, 614679 Tags
Red Red List (low evidence)	CCDC114	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 20, 615067 Tags new-gene-name
Red Red List (low evidence)	CCDC115	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Iio 616828 Tags
Red Red List (low evidence)	CCDC174	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia, infantile, with psychomotor retardation - IHPMR, 616816 Tags founder-effect
Red Red List (low evidence)	CCDC39	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CILIARY DYSKINESIA, PRIMARY, 14 Tags
Red Red List (low evidence)	CCDC40	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 15, 613808 Tags
Red Red List (low evidence)	CCDC65	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 27, 615504 Tags
Red Red List (low evidence)	CCDC78	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Centronuclear myopathy 4 614807 Tags
Red Red List (low evidence)	CCDC8	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 3-M syndrome, 614205 3M syndrome Three M syndrome 3 Tags
Red Red List (low evidence)	CCNA2	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Autosomal recessive mental retardation Tags
Red Red List (low evidence)	CCNB3	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CCNO	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary diskinesia, primary, 29, 615872 Tags
Red Red List (low evidence)	CCT5	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes autosomal recessive mutilating sensory neuropathy with spastic paraplegia Tags
Red Red List (low evidence)	CD99	3 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	CDC40	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags watchlist
Red Red List (low evidence)	CDC45	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Meier-Gorlin syndrome 7 617063 Tags
Red Red List (low evidence)	CDH15	7 reviews 3 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 3, OMIM:612580 Tags
Red Red List (low evidence)	CDH23	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Usher syndrome, type 1D, 601067 Deafness, autosomal recessive 12, 601386 Usher syndrome, type 1D/F digenic, 601067 Tags
Red Red List (low evidence)	CDH3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 Tags
Red Red List (low evidence)	CDK5R1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CDT1	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MEIER-GORLIN SYNDROME 4 Tags
Red Red List (low evidence)	CFAP47	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CFP	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Properdin deficiency, X-linked 312060 Tags
Red Red List (low evidence)	CHM	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Choroideremia, 303100 Tags
Red Red List (low evidence)	CHMP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Complex spastic quadriplegia associated with developmental delay and seizures Tags
Red Red List (low evidence)	CHRDL1	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Megalocornea 1, X-linked 309300 Tags
Red Red List (low evidence)	CHRNA2	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Epilepsy, nocturnal frontal lobe, type 4 610353 Tags
Red Red List (low evidence)	CHRNA4	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epilepsy, nocturnal frontal lobe, 1 600513 AD {Nicotine addiction, susceptibility to} 188890 Tags
Red Red List (low evidence)	CHRNB2	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Epilepsy, nocturnal frontal lobe, 3 605375 Tags
Red Red List (low evidence)	CHRNG	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Myasthenia gravis, neonatal transient Escobar syndrome, 265000 Multiple pterygium syndrome, lethal type, 253290 Tags
Red Red List (low evidence)	CHST3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 Tags
Red Red List (low evidence)	CHSY1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Temtamy preaxial brachydactyly syndrome, 605282 Tags
Red Red List (low evidence)	CHUK	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cocoon syndrome, 613630 Tags
Red Red List (low evidence)	CIB2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Deafness, autosomal recessive 48, 609439 Usher syndrome, type IJ, 614869 Tags
Red Red List (low evidence)	CISD2	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes WOLFRAM SYNDROME TYPE 2 Tags
Red Red List (low evidence)	CLCN5	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Dent disease Tags
Red Red List (low evidence)	CLCN7	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Osteopetrosis, autosomal recessive 4, OMIM:611490 Osteopetrosis, autosomal dominant 2, OMIM:166600 Tags
Red Red List (low evidence)	CLCNKA	2 reviews 1 red	Other	Sources Gene2Phenotype Phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags polygenic
Red Red List (low evidence)	CLCNKB	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Bartter syndrome, type 3, OMIM:607364 Bartter disease type 3, MONDO:0011822 Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags monogenic-polygenic
Red Red List (low evidence)	CLDN19	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 Tags
Red Red List (low evidence)	CLIC2	4 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886 Tags disputed
Red Red List (low evidence)	CLPP	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CMC4	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 Red Tags
Red Red List (low evidence)	CMIP	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes HP:0012759 HP:0000717 HP:0007018 HP:0001250 HP:0011471 Tags
Red Red List (low evidence)	CNKSR1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P) Tags
Red Red List (low evidence)	CNTN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CNTN4	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COA3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COA5	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 MITOCHONDRIAL COMPLEX IV DEFICIENCY Tags
Red Red List (low evidence)	COL10A1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Metaphyseal chondrodysplasia, Schmid type, 156500 Tags
Red Red List (low evidence)	COL11A1	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Stickler syndrome, type II, 604841 Marshall syndrome, 154780 {Lumbar disc herniation, susceptibility to}, 603932 Fibrochondrogenesis, 228520 Tags
Red Red List (low evidence)	COL11A2	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	COL18A1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Knobloch syndrome, type 1, 267750 Tags
Red Red List (low evidence)	COL1A1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Osteogenesis imperfecta, type I, 166200 OI type II, 166210 OI type III, 259420 OI type IV, 166220 Ehlers-Danlos syndrome, type I, 130000 Ehlers-Danlos syndrome, type VIIA, 130060 {Osteoporosis}, 166710 Caffey disease, 114000 [Bone mineral density variation QTL], 166710 Tags
Red Red List (low evidence)	COL1A2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COL25A1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COL2A1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Stickler syndrome, type I, 108300 Kniest dysplasia, 156550 Achondrogenesis, type II or hypochondrogenesis, 200610 SED congenita, 183900 SMED Strudwick type, 184250 Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 Spondyloperipheral dysplasia, 271700 SED, Namaqualand type Osteoarthritis with mild chondrodysplasia, 604864 Vitreoretinopathy with phalangeal epiphyseal dysplasia Platyspondylic skeletal dysplasia, Torrance type, 151210 Otospondylomegaepiphyseal dysplasia, 215150 Avascular necrosis of the femoral head, 608805 Legg-Calve-Perthes disease, 150600 Stickler sydrome, type I, nonsyndromic ocular, 609508 Czech dysplasia, 609162 Tags
Red Red List (low evidence)	COL4A3	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Alport syndrome, autosomal recessive, 203780 Hematuria, benign familial, 141200 Alport syndrome, autosomal dominant, 104200 Tags
Red Red List (low evidence)	COL4A4	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780 Hematuria,familial benign, OMIM:141200 Tags
Red Red List (low evidence)	COL4A6	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 Red Phenotypes ?Deafness, X-linked 6 300914 Tags
Red Red List (low evidence)	COL6A1	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Bethlem myopathy 1, OMIM:158810 Ullrich congenital muscular dystrophy 1, OMIM:254090 Tags
Red Red List (low evidence)	COL6A3	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Bethlem myopathy, OMIM:158810 Ullrich congenital muscular dystrophy, OMIM:254090 Tags
Red Red List (low evidence)	COL9A1	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Stickler syndrome, type IV, OMIM:614134 Epiphyseal dysplasia, multiple, 6, OMIM:614135 Tags
Red Red List (low evidence)	COL9A2	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Stickler syndrome, type V, OMIM:614284 Epiphyseal dysplasia, multiple, 2, OMIM:600204 Tags
Red Red List (low evidence)	COL9A3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 Tags
Red Red List (low evidence)	COLEC10	2 reviews 1 red	Not set	Sources Victorian Clinical Genetics Services Phenotypes 3MC syndrome 3, 248340 Tags
Red Red List (low evidence)	COMP	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Pseudoachondroplasia, 177170 Epiphyseal dysplasia, multiple 1, 132400 Tags
Red Red List (low evidence)	COQ2	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Coenzyme Q10 deficiency, primary, 1 607426 {Multiple system atrophy, susceptibility to} 146500 Tags
Red Red List (low evidence)	COQ5	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency Tags
Red Red List (low evidence)	COX14	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Mitochondrial complex IV deficiency 220110 Tags
Red Red List (low evidence)	COX6B1	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 Tags
Red Red List (low evidence)	CP	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes [Hypoceruloplasminemia, hereditary], 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Red Red List (low evidence)	CPA6	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Epilepsy, familial temporal lobe, 5 Tags
Red Red List (low evidence)	CPD	2 reviews 1 red	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CPXCR1	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CRB1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105 Leber congenital amaurosis 8, 613835 Pigmented paravenous chorioretinal atrophy, 172870 Tags
Red Red List (low evidence)	CRLF2	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	CRX	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cone-rod retinal dystrophy-2, 120970 Leber congenital amaurosis 7, 613829 Tags
Red Red List (low evidence)	CRYAA	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 9, multiple types, 604219 Tags
Red Red List (low evidence)	CRYBA1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 10, multiple types, 600881 Tags
Red Red List (low evidence)	CRYBA4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 23 610425 Tags
Red Red List (low evidence)	CRYBB1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 17, multiple types, 611544 Tags
Red Red List (low evidence)	CRYBB2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 3, multiple types, 601547 Tags
Red Red List (low evidence)	CRYBB3	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 22, OMIM:609741 Tags
Red Red List (low evidence)	CRYGC	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 2, multiple types 604307 Tags
Red Red List (low evidence)	CRYGD	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 4, multiple types, 115700 Tags
Red Red List (low evidence)	CSF1R	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 Tags adult-onset
Red Red List (low evidence)	CSF2RA	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Surfactant metabolism dysfunction, pulmonary, 4 300770 Tags Pseudoautosomal region 1
Red Red List (low evidence)	CTGF	1 review	Unknown	Sources Other Tags watchlist
Red Red List (low evidence)	CTNND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Phenotypes CTNND2-related neurodevelopmental disorder Tags
Red Red List (low evidence)	CTNS	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cystinosis, nephropathic, 219800 Cystinosis, ocular nonnephropathic, 219750 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 Cystinosis, atypical nephropathic, 219800 Tags
Red Red List (low evidence)	CTPS2	3 reviews 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 Red Tags
Red Red List (low evidence)	CTSF	6 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type Tags
Red Red List (low evidence)	CTSK	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Pycnodysostosis, 265800 Tags
Red Red List (low evidence)	CTTNBP2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	CUL7	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 3-M syndrome 1 273750 Tags
Red Red List (low evidence)	CXorf58	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Tags
Red Red List (low evidence)	CYP1B1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 Peters anomaly, 604229 Tags
Red Red List (low evidence)	CYP7B1	6 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Spastic paraplegia 5A, autosomal recessive , OMIM:270800 Tags
Red Red List (low evidence)	DAB1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DACT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Other Phenotypes ?Townes-Brocks syndrome 2,617466 TBS2 Tags
Red Red List (low evidence)	DCC	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability Tags structural-variant watchlist
Red Red List (low evidence)	DCHS2	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes pituitary stalk interruption syndrome, MONDO:0019828 Tags
Red Red List (low evidence)	DCTN1	3 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Neuropathy, distal hereditary motor, type VIIB, 607641 {Amyotrophic lateral sclerosis, susceptibility to}, 105400 Perry syndrome, 168605 Tags
Red Red List (low evidence)	DDB2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 Tags
Red Red List (low evidence)	DDHD1	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes HEREDITARY SPASTIC PARAPLEGIA Tags
Red Red List (low evidence)	DDR2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	DDX58	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Tags new-gene-name
Red Red List (low evidence)	DECR1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 2,4-DIENOYL-COA REDUCTASE DEFICIENCY Tags
Red Red List (low evidence)	DGKH	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	DHODH	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Miller syndrome OMIM: 126064 Tags
Red Red List (low evidence)	DHRSX	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	DIAPH2	3 reviews 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 Red Tags
Red Red List (low evidence)	DLGAP2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DLL3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 Tags
Red Red List (low evidence)	DLL4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ADAMS-OLIVER SYNDROME 6 Tags
Red Red List (low evidence)	DMP1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Hypophosphatemic rickets, AR, 241520 Tags
Red Red List (low evidence)	DMPK	6 reviews 1 green 3 red	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DNA2	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Seckel syndrome 8, OMIM:615807 Tags
Red Red List (low evidence)	DNAAF3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 2, 606763 Tags
Red Red List (low evidence)	DNAAF4	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes {Dyslexia, susceptibility to, 1}, 127700 Ciliary dyskinesia, primary, 25, 615482 Tags
Red Red List (low evidence)	DNAH14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Tags
Red Red List (low evidence)	DNAJC3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DNM2	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot Marie Tooth disease, axonal, type 2M, 606482 Charcot Marie Tooth disease, dominant intermediate B, 606482 Tags
Red Red List (low evidence)	DNMT1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant Neuropathy, hereditary sensory, type IE Tags
Red Red List (low evidence)	DOCK11	3 reviews 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 Red Tags
Red Red List (low evidence)	DPF1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	DPF3	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	DRD2	3 reviews 1 green 1 red	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Dystonia, myoclonic, 159900 Tags
Red Red List (low evidence)	DSCAM	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	DSCR3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability, no OMIM # yet Tags new-gene-name
Red Red List (low evidence)	DSPP	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dentinogenesis imperfecta, Shields type II, 125490 Deafness, autosomal dominant 36, with dentinogenesis, 605594 Dentinogenesis imperfecta, Shields type III, 125500 Dentin dysplasia, type II, 125420 Tags
Red Red List (low evidence)	DST	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary sensory and autonomic, type VI, 614653Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 Tags
Red Red List (low evidence)	DSTYK	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 Tags
Red Red List (low evidence)	DVL1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes NA Tags
Red Red List (low evidence)	DVL3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes AUTOSOMAL-DOMINANT ROBINOW SYNDROME Tags
Red Red List (low evidence)	DYNC2H1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Red Red List (low evidence)	ECEL1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Arthrogryposis, distal, type 5D, 615065 Tags
Red Red List (low evidence)	EDA	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 Tooth agenesis, selective, X-linked 1, 313500 Tags
Red Red List (low evidence)	EDNRA	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Migraine, resistance to, 157300 Tags
Red Red List (low evidence)	EDNRB	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes ABCD syndrome, 600501 ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS Tags
Red Red List (low evidence)	EFHC1	3 reviews 1 green 1 red	Unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 Tags
Red Red List (low evidence)	EGR2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	EIF2A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Intellectual disability epilepsy Tags
Red Red List (low evidence)	EIF2AK1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability white matter abnormalities Tags
Red Red List (low evidence)	EIF4G1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease 18, 614251 Tags
Red Red List (low evidence)	ELK1	4 reviews 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 Red Tags watchlist
Red Red List (low evidence)	ELN	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Supravalvar aortic stenosis, 185500 Cutis laxa, AD, 123700 Tags
Red Red List (low evidence)	ELOVL5	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 38, 615957 Tags
Red Red List (low evidence)	EN2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ENOX2	3 reviews 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 Red Tags
Red Red List (low evidence)	ENPP1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes {Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 {Obesity, susceptibility to}, 601665 Arterial calcification, generalized, of infancy, 1, 208000 Hypophosphatemic rickets, autosomal recessive, 2, 613312 Cole disease, 615522 Tags
Red Red List (low evidence)	EOGT	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Adams-Oliver syndrome 4, 615297 Tags
Red Red List (low evidence)	EOMES	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS Tags watchlist
Red Red List (low evidence)	EPM2A	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Red Red List (low evidence)	EPPK1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	ERCC4	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Xeroderma pigmentosum, group F, 278760 XFE progeroid syndrome, 610965 Fanconi anemia, complementation group Q, 615272 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Tags
Red Red List (low evidence)	ERF	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Craniosynostosis 4, 600775 Tags
Red Red List (low evidence)	ERMARD	7 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Tags watchlist
Red Red List (low evidence)	ESX1	3 reviews 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 Red Tags
Red Red List (low evidence)	EVC	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	EVC2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ellis-van Creveld syndrome, 225500 Tags
Red Red List (low evidence)	EXT1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	EYA1	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Branchiootorenal syndrome 1, with or without cataracts, 113650 Anterior segment anomalies with or without cataract, 113650 Branchiootic syndrome 1, 602588 ?Otofaciocervical syndrome, 166780 Tags
Red Red List (low evidence)	F5	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FA2H	7 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic paraplegia 35, autosomal recessive, 612319 spastic paraplegia with ID cognitive defects Seizures Tags
Red Red List (low evidence)	FAH	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes TYROSINEMIA TYPE 1 Tags
Red Red List (low evidence)	FAM111B	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 Tags
Red Red List (low evidence)	FAM160B1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Central hypotonia Global developmental delay Intellectual disability Abnormality of the face Tags new-gene-name
Red Red List (low evidence)	FAM161A	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Retinitis pigmentosa 28, 606068 Tags
Red Red List (low evidence)	FAM20A	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 Tags
Red Red List (low evidence)	FAM47B	3 reviews 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 Red Tags
Red Red List (low evidence)	FAM58A	6 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Phenotypes STAR syndrome 300707 Tags new-gene-name
Red Red List (low evidence)	FANCB	4 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 Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome Tags
Red Red List (low evidence)	FASN	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	FBLN5	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FBN1	7 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Marfan syndrome 154700 MASS syndrome 604308 Weill-Marchesani syndrome 2, dominant 608328 Marfan lipodystrophy syndrome 616914 Tags
Red Red List (low evidence)	FBN2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	FBP1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 Tags
Red Red List (low evidence)	FBXO25	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Expression in brain Tags
Red Red List (low evidence)	FBXO7	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease 15, autosomal recessive 260300 Tags
Red Red List (low evidence)	FBXO8	1 review 1 red	Not set	Sources Expert Review Red Phenotypes moderate developmental delay Tags
Red Red List (low evidence)	FBXW4	3 reviews 1 red	Not set	Sources Expert Review Red Phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 3 Tags
Red Red List (low evidence)	FDXR	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FEM1B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Syndromic intellectual disability Tags
Red Red List (low evidence)	FGD4	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot Marie Tooth disease, type 4H, 609311 Tags
Red Red List (low evidence)	FGF10	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Aplasia of lacrimal and salivary glands, 180920 LADD syndrome, 149730 Tags
Red Red List (low evidence)	FGF3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 Tags
Red Red List (low evidence)	FGFR1	8 reviews 3 green 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Hartsfield syndrome, OMIM:615465 Pfeiffer syndrome, OMIM:101600 Encephalocraniocutaneous lipomatosis, somatic mosaic, OMIM:613001 Tags
Red Red List (low evidence)	FGFR3	5 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes CATSHL syndrome 610474 Hypochondroplasia 146000 SADDAN 616482 Muenke syndrome 602849 Thanatophoric dysplasia, type I 187600 Tags adult-onset
Red Red List (low evidence)	FHL1	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Scapuloperoneal myopathy, X-linked dominant, 300695 Myopathy, X-linked, with postural muscle atrophy, 300696 Myopathy, reducing body, X-linked, severe early-onset, 300717 Myopathy, reducing body, X-linked, childhood-onset, 300718 Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 Tags
Red Red List (low evidence)	FKBP14	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 Tags
Red Red List (low evidence)	FKBP6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Williams-Beuren syndrome Tags microdeletion
Red Red List (low evidence)	FKBPL	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	FLAD1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Lipid storage myopathy due to flavin adenine synthetase deficiency 255100 Tags
Red Red List (low evidence)	FLNA	6 reviews 3 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 Emory Genetics Laboratory Expert Review Red NHS GMS 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
Red Red List (low evidence)	FLNB	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondylocarpotarsal synostosis syndrome, 272460 Larsen syndrome, 150250 Atelosteogenesis, type I, 108720 Atelosteogenesis, type III, 108721 Boomerang dysplasia, 112310 Tags
Red Red List (low evidence)	FLT4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Lymphedema, hereditary, IA, 153100 Hemangioma, capillary infantile, somatic, 602089 Tags
Red Red List (low evidence)	FLVCR1	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA Tags
Red Red List (low evidence)	FOXC1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Iridogoniodysgenesis, type 1, 601631 Rieger or Axenfeld anomalies, 602482 Axenfeld-Rieger syndrome, type 3, 602482 Iris hypoplasia and glaucoma, 601631 Tags
Red Red List (low evidence)	FOXC2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Lymphedema-distichiasis syndrome, 153400 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Tags
Red Red List (low evidence)	FOXE1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Bamforth-Lazarus syndrome, 241850 Tags
Red Red List (low evidence)	FOXE3	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Aphakia, congenital primary, 610256 Tags
Red Red List (low evidence)	FOXF1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 Tags
Red Red List (low evidence)	FOXN1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 Tags
Red Red List (low evidence)	FOXP3	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790 Tags
Red Red List (low evidence)	FREM1	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Bifid nose with or without anorectal and renal anomalies 608980 Manitoba oculotrichoanal syndrome 248450 Trigonocephaly 2 614485 Tags
Red Red List (low evidence)	FRMD7	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Nystagmus 1, congenital, X-linked 310700 Nystagmus, infantile periodic alternating, X-linked 310700 Tags
Red Red List (low evidence)	FTL	7 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Neurodegeneration with brain iron accumulation 3 606159 Hyperferritinemia-cataract syndrome L-ferritin deficiency, dominant and recessive Tags
Red Red List (low evidence)	FXN	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	FYCO1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 18, autosomal recessive, 610019 Tags
Red Red List (low evidence)	FZD3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FZD6	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 Tags
Red Red List (low evidence)	G6PC3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GAA	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Glycogen storage disease II, 232300 Tags
Red Red List (low evidence)	GAB3	3 reviews 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 Red Tags
Red Red List (low evidence)	GABRG3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GABRQ	4 reviews 2 red	Unknown	Sources Expert Review Red Phenotypes autism spectrum disorder, MONDO:0005258 schizophrenia, MONDO:0005090 migraine disorder, MONDO:0005277 Tags Autism Spectrum Disorder
Red Red List (low evidence)	GALK1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Galactokinase deficiency with cataracts, 230200 Tags
Red Red List (low evidence)	GALNS	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A (MPS4A) Tags
Red Red List (low evidence)	GAS8	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Red Red List (low evidence)	GATA2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Immunodeficiency 21, 614172 Emberger syndrome, 614038 {Myelodysplastic syndrome, susceptibility to}, 614286 {Leukemia, acute myeloid, susceptibility to}, 601626 Tags
Red Red List (low evidence)	GATA4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Atrial septal defect 2, 607941 Ventricular septal defect 1, 614429 Atrioventricular septal defect 4, 614430 ?Testicular anomalies with or without congenital heart disease, 615542 Tetralogy of Fallot, 187500 Tags
Red Red List (low evidence)	GBE1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GCK	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GDAP1	3 reviews 1 green 1 red	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 Red Phenotypes Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706 Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340 Charcot-Marie-Tooth disease, type 4A, OMIM:214400 Tags
Red Red List (low evidence)	GDF5	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Acromesomelic dysplasia, Hunter-Thompson type, 201250 Brachydactyly, type C, 113100 Chondrodysplasia, Grebe type, 200700 Du Pan syndrome, 228900 Brachydactyly, type A2, 112600 Symphalangism, proximal, 1B, 615298 Multiple synostoses syndrome 2, 610017 {Osteoarthritis-5}, 612400 Brachydactyly, type A1, C, 615072 Tags
Red Red List (low evidence)	GDF6	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Klippel-Feil syndrome 1, autosomal dominant, 118100 Microphthalmia, isolated 4, 613094 Microphthalmia with coloboma 6, digenic, 613703 Leber congenital amaurosis 17, 615360 Tags
Red Red List (low evidence)	GHR	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Laron dwarfism, OMIM:262500 Growth hormone insensitivity, partial, OMIM:604271 Increased responsiveness to growth hormone, OMIM:604271 Tags
Red Red List (low evidence)	GIGYF2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GJA1	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	GJA3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 14, multiple types, 601885 Tags
Red Red List (low evidence)	GJA8	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 1, multiple types, 116200 Tags
Red Red List (low evidence)	GJB2	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Deafness, autosomal recessive 1A, 220290 Deafness, autosomal dominant 3A, 601544 Vohwinkel syndrome, 124500 Keratoderma, palmoplantar, with deafness, 148350 Keratitis-ichthyosis-deafness syndrome, 148210 Hystrix-like ichthyosis with deafness, 602540 Bart-Pumphrey syndrome, 149200 Tags
Red Red List (low evidence)	GLE1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Lethal congenital contracture syndrome 1, 253310 Arthrogryposis, lethal, with anterior horn cell disease, 611890 Tags
Red Red List (low evidence)	GLMN	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Glomuvenous malformations, 138000 Tags
Red Red List (low evidence)	GLRA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Victorian Clinical Genetics Services Phenotypes Hyperekplexia developmental delay infantile spasms and generalized tonic-clonic seizures Tags
Red Red List (low evidence)	GLS_GCA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 Tags NGS Not Validated STR
Red Red List (low evidence)	GLUD1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	GNAI3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Auriculocondylar syndrome 1, 602483 Tags
Red Red List (low evidence)	GNAL	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dystonia 25, 615073 Tags
Red Red List (low evidence)	GON4L	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	GORAB	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Geroderma osteodysplasticum Tags
Red Red List (low evidence)	GOSR2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 6, 614018 Tags
Red Red List (low evidence)	GPHN	4 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Molybdenum cofactor deficiency C, OMIM:615501 Tags Autism Spectrum Disorder deletions treatable
Red Red List (low evidence)	GPR179	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 Tags
Red Red List (low evidence)	GPRASP1	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 Red Tags
Red Red List (low evidence)	GRB14	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	GRHL3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Van der Woude syndrome 2, 606713 Tags
Red Red List (low evidence)	GRIP1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	GRM6	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 Tags
Red Red List (low evidence)	GRN	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 Aphasia, primary progressive, 607485 Ceroid lipofuscinosis, neuronal, 11, 614706 Tags
Red Red List (low evidence)	GSPT2	5 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes XL INTELLECTUAL DISABILITY Tags watchlist
Red Red List (low evidence)	GTPBP8	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	GUCY2C	5 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Diarrhea 6, 614616 Meconium ileus, 614665 Tags
Red Red List (low evidence)	GYS2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HADH	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hyperinsulinemic hypoglycemia, familial, 4, 609975 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 Tags
Red Red List (low evidence)	HARS2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HAUS7	3 reviews 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 Red Tags
Red Red List (low evidence)	HDAC6	3 reviews 2 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863 Tags
Red Red List (low evidence)	HIST1H4B	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags new-gene-name
Red Red List (low evidence)	HIST1H4D	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Growth abnormality Abnormality of the face Tags new-gene-name
Red Red List (low evidence)	HIST1H4F	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Global developmental delay Intellectual disability Microcephaly Growth abnormality Abnormality of the face Tags new-gene-name
Red Red List (low evidence)	HIST3H3	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags new-gene-name
Red Red List (low evidence)	HMGB3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Microphthalmia, syndromic 13, 300915 Intellectual disability Tags
Red Red List (low evidence)	HMGCS2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes HMG-CoA synthase-2 deficiency, 605911 Tags
Red Red List (low evidence)	HNF4A	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes MODY, type I, 125850 {Diabetes mellitus, noninsulin-dependent}, 125853 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 Tags
Red Red List (low evidence)	HOXA13	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Hand-foot-uterus syndrome, 140000 Guttmacher syndrome, 176305 Tags
Red Red List (low evidence)	HOXC13	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ectodermal dysplasia 9, hair/nail type, 614931 Tags
Red Red List (low evidence)	HOXD10	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HOXD13	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Synpolydactyly, type II, 186000 Brachydactyly, type E, 113300 Brachydactyly, type D, 113200 Synpolydactyly with foot anomalies, 186000 Syndactyly, type V, 186300 Brachydactyly-syndactyly syndrome, 610713 ?VACTERL association, 192350 Tags
Red Red List (low evidence)	HPGD	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cranioosteoarthropathy, 259100 Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 Digital clubbing, isolated congenital, 119900 Tags
Red Red List (low evidence)	HPS1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 1, 203300 Tags
Red Red List (low evidence)	HPSE2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Urofacial syndrome 1, 236730 Tags
Red Red List (low evidence)	HR	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Alopecia universalis, 203655 Atrichia with papular lesions, 209500 Hypotrichosis 4, 146550 Tags
Red Red List (low evidence)	HS6ST2	3 reviews 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 Red Tags
Red Red List (low evidence)	HSD3B7	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Bile acid synthesis defect, congenital, 1, 607765 Tags
Red Red List (low evidence)	HSF4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cataract 5, multiple types, OMIM:116800 Tags
Red Red List (low evidence)	HYAL1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Mucopolysaccharidosis type IX, 601492 Tags
Red Red List (low evidence)	HYDIN	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes CILIARY DYSKINESIA, PRIMARY, 5 CILD5 Tags
Red Red List (low evidence)	HYLS1	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes HYDROLETHALUS SYNDROME TYPE 1 (HLS1) Tags
Red Red List (low evidence)	IARS2	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 Tags
Red Red List (low evidence)	IFITM5	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Osteogenesis imperfecta, type V, 610967 Tags
Red Red List (low evidence)	IFNAR2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	IFT122	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cranioectodermal dysplasia 1, 218330 Tags
Red Red List (low evidence)	IFT140	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 Tags
Red Red List (low evidence)	IFT80	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes NA Tags
Red Red List (low evidence)	IGBP1	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Tags
Red Red List (low evidence)	IGF2	4 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Beckwith-Wiedemann Syndrome Chromosome 11p15.5-Related Russell-Silver Syndrome Tags
Red Red List (low evidence)	IGHMBP2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 Tags
Red Red List (low evidence)	IGSF1	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes Hypothyroidism, central and testicular enlargement Tags
Red Red List (low evidence)	IHH	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Acrocapitofemoral dysplasia, OMIM:607778 Brachydactyly, type A1, OMIM:112500 Tags
Red Red List (low evidence)	IL11RA	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Crouzon-like craniosynostosis Autosomal Recessive Craniosynostosis Tags
Red Red List (low evidence)	IL3RA	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	ILF2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	IMPAD1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Chondrodysplasia with joint dislocations, GRAPP type, 614078 Tags new-gene-name
Red Red List (low evidence)	INF2	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Glomerulosclerosis, focal segmental, 5, 613237Charcot-Marie-Tooth disease, dominant intermediate E, 614455 Tags
Red Red List (low evidence)	INPPL1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Opsismodysplasia, 258480 Tags
Red Red List (low evidence)	INSR	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	INTS6	2 reviews 1 red	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	INTS6L	4 reviews 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 Red Tags
Red Red List (low evidence)	INTS8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Victorian Clinical Genetics Services Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 Tags
Red Red List (low evidence)	IQSEC3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	IRAK1	3 reviews 3 red	Unknown	Sources Expert Review Red UKGTN Phenotypes Lubs X-Linked Mental Retardation Syndrome MRXSL Tags
Red Red List (low evidence)	IRF6	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes van der Woude syndrome, 119300 Popliteal pterygium syndrome 1, 119500 Orofacial cleft 6, 608864 Tags
Red Red List (low evidence)	ITCH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Autoimmune disease, multisystem, with facial dysmorphism, 613385 Tags
Red Red List (low evidence)	ITGA3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 Tags
Red Red List (low evidence)	ITGA4	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ITGB6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Alopecia with mental retardation (APMR) mild-to-moderate intellectual disability, adolescent alopecia and dentogingival abnormalities Tags
Red Red List (low evidence)	ITIH6	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	JAG1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Alagille syndrome 1, OMIM:118450 Tags
Red Red List (low evidence)	JAGN1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes NA Tags
Red Red List (low evidence)	JAK3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 Tags
Red Red List (low evidence)	JPH3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Paroxysmal dystonia, MONDO:0016058 Tags
Red Red List (low evidence)	KANK1	3 reviews 3 red	Other - please specify in evaluation comments	Sources Expert Review Red Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 (CPSQ2) Tags
Red Red List (low evidence)	KATNAL2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	KBTBD13	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nemaline myopathy 6, autosomal dominant, 609273 Tags
Red Red List (low evidence)	KCND1	3 reviews 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 Red Tags
Red Red List (low evidence)	KCND3	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 19, 607346 Tags
Red Red List (low evidence)	KCNE1	3 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Jervell and Lange-Nielsen syndrome 2, OMIM:612347 Long QT syndrome 5, OMIM:613695 Tags
Red Red List (low evidence)	KCNK12	3 reviews 3 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	KCNQ1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Long QT syndrome 1, 192500 Jervell and Lange-Nielsen syndrome, 220400 Atrial fibrillation, familial, 3, 607554 Short QT syndrome 2, 609621 {Long QT syndrome 1, acquired, susceptibility to}, 192500 Tags
Red Red List (low evidence)	KCTD1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Scalp-ear-nipple syndrome, 181270 Tags
Red Red List (low evidence)	KIF1B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypotonia coloboma, MONDO:0001476 hypoplasia of the corpus callosum severe neurodevelopmental delay Tags
Red Red List (low evidence)	KIF1C	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic ataxia 2, autosomal recessive, OMIM:611302 Tags
Red Red List (low evidence)	KIF21A	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	KIF22	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 Tags
Red Red List (low evidence)	KIF26B	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Tags
Red Red List (low evidence)	KIT	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Piebaldism, 172800 Gastrointestinal stromal tumor, familial, 606764 Mast cell disease, 154800 Leukemia, acute myeloid, 601626 Germ cell tumors, 273300 Tags
Red Red List (low evidence)	KLF1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Blood group--Lutheran inhibitor, 111150 [Hereditary persistence of fetal hemoglobin], 613566 Dyserythropoietic anemia, congenital, type IV, 613673 Tags
Red Red List (low evidence)	KLF8	3 reviews 3 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 Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	KLHL21	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	KLHL34	3 reviews 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 Red Tags
Red Red List (low evidence)	KLHL4	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 Red Tags
Red Red List (low evidence)	KLHL40	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nemaline myopathy 8, autosomal recessive, 615348 Tags
Red Red List (low evidence)	KRIT1	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 (CCM1) Tags
Red Red List (low evidence)	LBR	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Reynolds syndrome Tags
Red Red List (low evidence)	LDB3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Myopathy, myofibrillar, 4, 609452 Cardiomyopathy, dilated 1C, 601493 Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 Tags
Red Red List (low evidence)	LEMD3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Osteopoikilosis, 166700 Buschke-Ollendorff syndrome, 166700 Melorheostosis with osteopoikilosis, 155950 Tags
Red Red List (low evidence)	LFNG	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Spondylocostal dysostosis 3, autosomal recessive, 609813 Tags
Red Red List (low evidence)	LGI1	4 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Epilepsy, familial temporal lobe, 1 600512 AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES Tags
Red Red List (low evidence)	LGI4	4 reviews 2 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Arthrogryposis Multiplex Congenita Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 AMCNMY Intellectual disability Global developmental delay Tags
Red Red List (low evidence)	LHFPL3	3 reviews 2 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	LHX3	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	LHX4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Pituitary hormone deficiency, combined, 4, 262700 Tags
Red Red List (low evidence)	LIMK1	3 reviews 2 red	Not set	Sources Expert Review Red Phenotypes Williams-Beuren syndrome Tags
Red Red List (low evidence)	LITAF	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 1C, 601098 Tags
Red Red List (low evidence)	LMNA	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Emery-Dreifuss muscular dystrophy 2, AD, 181350 Cardiomyopathy, dilated, 1A, 115200 Lipodystrophy, familial partial, 2, 151660 Emery-Dreifuss muscular dystrophy 3, AR, 181350 Charcot-Marie-Tooth disease, type 2B1, 605588 Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb-girdle, type 1B, 159001 Mandibuloacral dysplasia, 248370 Hutchinson-Gilford progeria, 176670 Restrictive dermopathy, lethal, 275210 Heart-hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112 Tags
Red Red List (low evidence)	LMX1B	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nail-patella syndrome, 161200 Tags
Red Red List (low evidence)	LOXHD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Deafness, autosomal recessive 77, 613079 Tags
Red Red List (low evidence)	LRAT	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes LEBER CONGENITAL AMAUROSIS Tags
Red Red List (low evidence)	LRP1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	LRP4	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cenani-Lenz syndactyly syndrome, 212780 Sclerosteosis 2, 614305 Tags
Red Red List (low evidence)	LRRC6	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 19, 614935 Tags new-gene-name
Red Red List (low evidence)	LRRK1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	LRRK2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease 8, 607060 Tags
Red Red List (low evidence)	LTBP2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Glaucoma 3, primary congenital, D, 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 Weill-Marchesani syndrome 3, recessive, 614819 Tags
Red Red List (low evidence)	LTBP3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Tooth agenesis, selective, 6, 613097 Tags
Red Red List (low evidence)	LYST	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Chediak-Higashi syndrome, 214500 Tags
Red Red List (low evidence)	MACC1	1 review	Unknown	Sources Other Tags watchlist
Red Red List (low evidence)	MAFB	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Duane retraction syndrome 3 (617041) Multicentric carpotarsal osteolysis syndrome (166300) Tags
Red Red List (low evidence)	MAGEA11	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGEB1	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGEB10	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGEB2	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGEC1	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGEC3	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGED1	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Phenotypes X-linked syndrome characterized by intellectual disability Tags
Red Red List (low evidence)	MAGEE2	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGI2	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Epileptic encephalopathy Infantile spasms Tags
Red Red List (low evidence)	MAGIX	3 reviews 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 Red Tags
Red Red List (low evidence)	MAGT1	4 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 Tags
Red Red List (low evidence)	MAOB	3 reviews 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 Red Tags
Red Red List (low evidence)	MAP3K1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes 46XY sex reversal 6, 613762 Tags
Red Red List (low evidence)	MAP3K15	3 reviews 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 Red Tags
Red Red List (low evidence)	MAP3K7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Frontometaphyseal dysplasia 2, 617137 Tags
Red Red List (low evidence)	MAP7D3	3 reviews 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 Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	MAPT	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274 Pick disease, 172700 Supranuclear palsy, progressive, 601104 Supranuclear palsy, progressive atypical, 260540 {Parkinson disease, susceptibility to}, 168600 Tags
Red Red List (low evidence)	MARS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Combined oxidative phosphorylation deficiency 25 (616430) (global developmental delay) Tags
Red Red List (low evidence)	MATN3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epiphyseal dysplasia, multiple, 5, 607078 {Osteoarthritis susceptibility 2}, 140600 Spondyloepimetaphyseal dysplasia, 608728 Tags
Red Red List (low evidence)	MBNL3	3 reviews 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 Red Tags
Red Red List (low evidence)	MC2R	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 Tags
Red Red List (low evidence)	MCEE	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Methylmalonyl-CoA epimerase deficiency Tags
Red Red List (low evidence)	MCM9	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	MECR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Childhood-Onset Dystonia and Optic Atrophy Tags
Red Red List (low evidence)	MEGF10	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	MEGF8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	MESP2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 Tags
Red Red List (low evidence)	MET	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	METAP1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability, aggression, neurodevelopmental delay Tags
Red Red List (low evidence)	MFRP	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes NA Tags
Red Red List (low evidence)	MGAT5B	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	MGP	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Keutel syndrome 245150 Tags
Red Red List (low evidence)	MIB1	4 reviews 4 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	MITF	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Waardenburg syndrome, type 2A, 193510 Waardenburg syndrome/ocular albinism, digenic, 103470 Tietz albinism-deafness syndrome, 103500 {Melanoma, cutaneous malignant, susceptibility to, 8}, 614456 Tags
Red Red List (low evidence)	MLH1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mismatch repair cancer syndrome Tags
Red Red List (low evidence)	MMP13	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111 Metaphyseal anadysplasia 1, 602111 Tags
Red Red List (low evidence)	MMP21	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Heterotaxy, visceral, 7, autosomal 616749 Tags
Red Red List (low evidence)	MNX1	6 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	MORC4	3 reviews 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 Red Tags
Red Red List (low evidence)	MPDZ	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hydrocephalus, nonsyndromic, autosomal recessive 2 Tags
Red Red List (low evidence)	MPI	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Tags
Red Red List (low evidence)	MPZ	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791) Charcot-Marie-Tooth disease, type 1B Tags
Red Red List (low evidence)	MRAP	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	MRE11	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome-like severe microcephaly, Intellectual disability Tags
Red Red List (low evidence)	MSX1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ectodermal dysplasia 3, Witkop type, OMIM:189500 Orofacial cleft 5, OMIM:608874 Tooth agenesis, selective, 1, with or without orofacial cleft, OMIM:106600 Tags
Red Red List (low evidence)	MSX2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Craniosynostosis, type 2, 604757 Parietal foramina 1, 168500 Parietal foramina with cleidocranial dysplasia, 168550 Tags
Red Red List (low evidence)	MT-ATP6	3 reviews 1 green	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Expert Review Red Phenotypes n/a Tags
Red Red List (low evidence)	MT-ND1	2 reviews 1 green 1 red	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Expert Review Red Phenotypes Leber optic atrophy Sudden infant death syndrome Mitochondrial complex I deficiency Dystonia, adult-onset Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome MELAS syndrome Deafness, nonsyndromic sensorineural, mitochondrial Tags
Red Red List (low evidence)	MT-ND4	4 reviews 1 green 1 red	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Expert Review Red Phenotypes Mitochondrial complex I deficiency autism spectrum disorder intellectual disability Tags cnv
Red Red List (low evidence)	MT-TK	4 reviews 1 green 1 red	MITOCHONDRIAL	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Expert Review Red Phenotypes MERRF syndrome 545000 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME Tags
Red Red List (low evidence)	MT-TP	5 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Red Tags
Red Red List (low evidence)	MTF1	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	MTM1	4 reviews 1 green 2 red	Not set	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400 Tags
Red Red List (low evidence)	MTMR1	3 reviews 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 Red Tags
Red Red List (low evidence)	MTMR14	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Gene2Phenotype Phenotypes {Centronuclear myopathy, autosomal, modifier of}, 160150 Autosomal dominant centronuclear myopathy Tags
Red Red List (low evidence)	MTMR2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4B, 601382 Tags
Red Red List (low evidence)	MTMR8	3 reviews 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 Red Tags
Red Red List (low evidence)	MTPAP	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Spastic ataxia 4, autosomal recessive Tags
Red Red List (low evidence)	MTTP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Abetalipoproteinemia, 200100 Tags
Red Red List (low evidence)	MXRA5	3 reviews 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 Red Tags
Red Red List (low evidence)	MYBPC1	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Arthrogryposis, distal, type 1B 614335 AD Lethal congenital contracture syndrome 4 614915 AR Tags
Red Red List (low evidence)	MYH3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	MYH6	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic, 14, 613251 Atrial septal defect 3, 614089 Cardiomyopathy, dilated, 1EE, 613252 {Sick sinus syndrome 3}, 614090 Tags
Red Red List (low evidence)	MYH8	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Carney complex variant, 608837 Trismus-pseudocamptodactyly syndrome, 158300 Tags
Red Red List (low evidence)	MYH9	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes May-Hegglin anomaly, 155100 Fechtner syndrome, 153640 Sebastian syndrome, 605249 Deafness, autosomal dominant 17, 603622 Epstein syndrome, 153650 Macrothrombocytopenia and progressive sensorineural deafness, 600208 Tags
Red Red List (low evidence)	MYO1D	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	MYO1G	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	MYO1H	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 Tags
Red Red List (low evidence)	MYO5B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Diarrhea 2, with microvillus atrophy, OMIM:251850 Tags
Red Red List (low evidence)	MYO7A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype both DD and IF gene with ID HPO Tags
Red Red List (low evidence)	MYT1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red Red List (low evidence)	NADK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 Tags
Red Red List (low evidence)	NCAPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Microcephaly 23, primary, autosomal recessive, 617985 Tags watchlist
Red Red List (low evidence)	NDN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Literature Phenotypes Smith-Magenis-like syndrome Tags
Red Red List (low evidence)	NDRG1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 Tags
Red Red List (low evidence)	NDUFA10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Leigh syndrome, 256000 Leigh disease with leukodystrophy Nuclear Gene-Encoded Leigh syndrome Tags
Red Red List (low evidence)	NDUFA11	3 reviews 2 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency 252010 Tags
Red Red List (low evidence)	NDUFA12	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Red Red List (low evidence)	NDUFA9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000 Leigh disease with leukodystrophy Nuclear Gene-Encoded Leigh syndrome Tags
Red Red List (low evidence)	NDUFAF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Mitochondrial complex I deficiency Tags
Red Red List (low evidence)	NDUFS2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Mitochondrial complex I deficiency Tags
Red Red List (low evidence)	NDUFS3	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Leigh syndrome due to mitochondrial complex I deficiency Tags
Red Red List (low evidence)	NEB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Gene2Phenotype Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 Tags
Red Red List (low evidence)	NECAB2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	NECTIN1	3 reviews 2 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME Tags
Red Red List (low evidence)	NEFL	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot Marie Tooth disease, type 1F, 607734 Tags
Red Red List (low evidence)	NEK1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 Tags
Red Red List (low evidence)	NGF	1 review 1 red	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NHEJ1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291 Tags
Red Red List (low evidence)	NHLRC1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 Tags
Red Red List (low evidence)	NIPA1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic paraplegia 6, autosomal dominant, 600363 Non Imprinted In Prader-Willi/Angelman Syndrome 1 Tags
Red Red List (low evidence)	NKX2-5	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Amber Expert Review Red Phenotypes Atrial septal defect 7, with or without AV conduction defects, 108900 Tetrology of Fallot, 187500 Hypothyroidism, congenital nongoitrous, 5, 225250 Ventricular septal defect 3, 614432 Hypoplastic left heart syndrome 2, 614435 Conotruncal heart malformations, variable, 217095 Tags
Red Red List (low evidence)	NKX3-2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 Tags
Red Red List (low evidence)	NLGN4X	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Red Victorian Clinical Genetics Services Phenotypes SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 (AUTSX2) Tags
Red Red List (low evidence)	NLRP3	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes CINCA syndrome, OMIM:607115 Tags
Red Red List (low evidence)	NMNAT1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Leber congenital amaurosis 9, 608553 Tags
Red Red List (low evidence)	NODAL	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Heterotaxy, visceral, 5, 270100 Tags
Red Red List (low evidence)	NOG	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Symphalangism, proximal, 185800 Multiple synostoses syndrome 1, 186500 Tarsal-carpal coalition syndrome, 186570 Stapes ankylosis with broad thumb and toes, 184460 Brachydactyly, type B2, 611377 Tags
Red Red List (low evidence)	NOP56	3 reviews 1 green 1 red	Other	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 36, OMIM:614153 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	NOTCH2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Alagille syndrome 2, 610205 Hajdu-Cheney syndrome, 102500 Tags
Red Red List (low evidence)	NPHP4	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nephronophthisis 4, 606966 Senior-Loken syndrome 4, 606996 Tags
Red Red List (low evidence)	NPHS1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nephrotic syndrome, type 1, 256300 Tags
Red Red List (low evidence)	NPHS2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nephrotic syndrome, type 2, 600995 Tags
Red Red List (low evidence)	NPR2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Acromesomelic dysplasia, Maroteaux type, 602875 Epiphyseal chondrodysplasia, Miura type, 615923 Tags
Red Red List (low evidence)	NPR3	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NR1I3	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes EHMT1-like Intellectual disability Tags
Red Red List (low evidence)	NR5A1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes 46XY sex reversal 3, 612965 Premature ovarian failure 7, 612964 Adrenocortical insufficiency Spermatogenic failure 8, 613957 Tags
Red Red List (low evidence)	NRK	3 reviews 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 Red Phenotypes Hypermobility syndrome Sotos syndrome Tags
Red Red List (low evidence)	NRXN2	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes autism spectrum disorder intellectual disability Tags Autism Spectrum Disorder cnv
Red Red List (low evidence)	NRXN3	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Autism spectrum disorder Tags microdeletion
Red Red List (low evidence)	NSF	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 96, OMIM:619340 Tags
Red Red List (low evidence)	NTM	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	NTNG1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NXF4	4 reviews 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 Red Phenotypes Intellectual Disability Tags locus-type-pseudogene
Red Red List (low evidence)	NXF5	4 reviews 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 Red Phenotypes Intellectual Disability Tags
Red Red List (low evidence)	OBSL1	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes 3-M Syndrome 2, 612921 Tags
Red Red List (low evidence)	ODF2L	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	OR5M1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Intellectual disability Tags
Red Red List (low evidence)	ORC1	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 1, 224690 MEIER-GORLIN SYNDROME 1 Tags
Red Red List (low evidence)	ORC4	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meier-Gorlin syndrome 2, 613800 Tags
Red Red List (low evidence)	ORC6	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Meier-Gorlin syndrome 3, 613803 Tags
Red Red List (low evidence)	OTOGL	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Deafness, autosomal recessive 84B, 614944 Tags
Red Red List (low evidence)	OTULIN	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 Tags
Red Red List (low evidence)	OXCT1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Red Phenotypes Succinyl-CoA: 3-Oxoacid CoA Transferase (SCOT) Deficiency SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY Tags
Red Red List (low evidence)	P2RY4	3 reviews 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 Red Tags
Red Red List (low evidence)	P2RY8	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	P3H1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	P4HB	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes COLE-CARPENTER SYNDROME Tags
Red Red List (low evidence)	PABPC5	3 reviews 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 Red Tags
Red Red List (low evidence)	PALB2	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Fanconi anemia, complementation group N, 610832 {Breast cancer, susceptibility to}, 114480 {Pancreatic cancer, susceptibility to, 3}, 613348 Tags
Red Red List (low evidence)	PANK2	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neurodegeneration with brain iron accumulation 1, 234200 HARP syndrome, 607236 Tags
Red Red List (low evidence)	PAPSS2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 Tags
Red Red List (low evidence)	PARK7	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 Tags
Red Red List (low evidence)	PARP1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	PASD1	3 reviews 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 Red Tags
Red Red List (low evidence)	PAX2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	PAX3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Waardenburg syndrome, type 1, 193500 Waardenburg syndrome, type 3, 148820 Craniofacial-deafness-hand syndrome, 122880 Rhabdomyosarcoma 2, alveolar, 268220 Tags
Red Red List (low evidence)	PAX6	6 reviews 3 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS 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
Red Red List (low evidence)	PAX7	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypotonia Axial hypotonia Ptosis Scoliosis Delayed motor milestones Myopathy, congenital, progressive, with scoliosis, 618578 Tags
Red Red List (low evidence)	PAX9	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Tooth agenesis, selective, 3, 604625 Tags
Red Red List (low evidence)	PBRM1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	PCBD1	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D Tags
Red Red List (low evidence)	PCDH10	3 reviews 3 red	Not set	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PCLO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 3 Tags
Red Red List (low evidence)	PCYT1A	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 Tags
Red Red List (low evidence)	PDCD10	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 (CCM3) Tags
Red Red List (low evidence)	PDE6G	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Retinitis pigmentosa 57, 613582 Tags
Red Red List (low evidence)	PDGFB	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Meningioma, SIS-related, 607174 Dermatofibrosarcoma protuberans, 607907 Basal ganglia calcification, idiopathic, 5, 615483 Tags
Red Red List (low evidence)	PDYN	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 23, 610245 Tags
Red Red List (low evidence)	PECR	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	PGM1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type It, 614921 Tags
Red Red List (low evidence)	PGRMC1	4 reviews 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 Red Tags
Red Red List (low evidence)	PHC1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Microcephaly 11, primary, autosomal recessive, 615414 MCPH11 Intellectural disability Tags watchlist
Red Red List (low evidence)	PHF10	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	PHKA1	3 reviews 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 Red Tags
Red Red List (low evidence)	PHKA2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PHKG2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PHOX2B	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE Tags
Red Red List (low evidence)	PIEZO2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	PIGF	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Glycosylphosphatidylinositol deficiency, onychodystrophy, osteodystrophy, intellectual disability, and seizures Tags founder-effect
Red Red List (low evidence)	PIGY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Victorian Clinical Genetics Services Phenotypes Hyperphosphatasia with mental retardation syndrome 6 Tags
Red Red List (low evidence)	PIK3C3	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	PIK3R1	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Agammaglobulinemia 7, autosomal recessive, 615214 SHORT syndrome, 269880 Immunodeficiency 36, 616005 Tags
Red Red List (low evidence)	PIN4	3 reviews 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 Red Tags
Red Red List (low evidence)	PINK1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease 6, early onset, 605909 Tags
Red Red List (low evidence)	PITX2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Axenfeld-Rieger syndrome, type 1, 180500 Iridogoniodysgenesis, type 2, 137600 Ring dermoid of cornea, 180550 Peters anomaly, 604229 Tags
Red Red List (low evidence)	PITX3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Anterior segment mesenchymal dysgenesis, 107250 Cataract 11, multiple types, 610623 Cataract 11, syndromic, 610623 Tags
Red Red List (low evidence)	PKD1L1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Laterality defects Tags
Red Red List (low evidence)	PKHD1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Polycystic kidney and hepatic disease, 263200 Tags
Red Red List (low evidence)	PLCE1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nephrotic syndrome, type 3, 610725 Tags
Red Red List (low evidence)	PLCXD1	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	PLEC	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, OMIM:616487 Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950 Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138 Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723 Tags
Red Red List (low evidence)	PLOD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	PLOD2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Bruck syndrome 2, 609220 Tags
Red Red List (low evidence)	PLOD3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Lysyl hydroxylase 3 deficiency, 612394 Tags
Red Red List (low evidence)	PLXNB3	3 reviews 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 Red Tags
Red Red List (low evidence)	PMP22	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 1A, 118220 Dejerine-Sottas disease, 145900 Neuropathy, recurrent, with pressure palsies, 162500 Charcot-Marie-Tooth disease, type 1E, 118300 Roussy-Levy syndrome, 180800 Neuropathy, inflammatory demyelinating, 139393 Tags
Red Red List (low evidence)	PMS2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Mismatch repair cancer syndrome, 276300 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 Tags
Red Red List (low evidence)	PNKD	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Paroxysmal nonkinesigenic dyskinesia, 118800 Tags
Red Red List (low evidence)	PNP	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 Tags
Red Red List (low evidence)	POC1A	4 reviews 1 green 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 SOFT syndrome Tags
Red Red List (low evidence)	POC1B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cone-rod dystrophy 20, 615973 Tags
Red Red List (low evidence)	POGLUT1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	POLD1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes {Colorectal cancer, susceptibility to, 10}, 612591 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 Tags
Red Red List (low evidence)	POLR1D	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Treacher Collins syndrome 2, OMIM:613717 Tags
Red Red List (low evidence)	PPA2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Sudden arrhythmic cardiac death after infectious or alcohol trigger Tags
Red Red List (low evidence)	PPOX	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Porphyria variegata, 176200 Tags
Red Red List (low evidence)	PPP1R1B	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PPP2R2B	3 reviews 1 green 1 red	Other	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	PRDM12	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 Tags
Red Red List (low evidence)	PRDX4	3 reviews 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 Red Tags
Red Red List (low evidence)	PREPL	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypotonia-cystinuria syndrome, 606407 HCS 2p21 deletion syndrome Intellectual disability Tags
Red Red List (low evidence)	PRICKLE1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 1B, OMIM:612437 Tags
Red Red List (low evidence)	PRICKLE3	3 reviews 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 Red Tags
Red Red List (low evidence)	PRKAR1A	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Acrodysostosis 1, with or without hormone resistance, OMIM:101800 Tags
Red Red List (low evidence)	PRKCG	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 14, 605361 Tags
Red Red List (low evidence)	PRKN	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease, juvenile, type 2, 600116 Adenocarcinoma of lung, somatic, 211980 Adenocarcinoma, ovarian, somatic, 167000 {Leprosy, susceptibility to}, 607572 Tags
Red Red List (low evidence)	PRKRA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dystonia 16, 612067 Tags
Red Red List (low evidence)	PRMT9	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	PROP1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Pituitary hormone deficiency, combined, 2, 262600 Tags
Red Red List (low evidence)	PROX2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	PRRG1	3 reviews 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 Red Tags
Red Red List (low evidence)	PRRG3	3 reviews 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 Red Tags
Red Red List (low evidence)	PRSS56	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Microphthalmia, isolated 6, 613517 Tags
Red Red List (low evidence)	PRX	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4F, OMIM:614895 Dejerine-Sottas disease, OMIM:145900 Tags
Red Red List (low evidence)	PSAT1	5 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Phosphoserine aminotransferase deficiency, OMIM:610992 Neu-Laxova syndrome 2, OMIM:616038 Tags
Red Red List (low evidence)	PSEN1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Alzheimer disease, type 3, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Dementia, frontotemporal, 600274 Pick disease, 172700 Tags
Red Red List (low evidence)	PSMA7	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	PSMD10	3 reviews 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 Red Tags
Red Red List (low evidence)	PTPN21	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	PUDP	4 reviews 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 Red Tags
Red Red List (low evidence)	PYGL	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Glycogen storage disease VI, 232700 Tags
Red Red List (low evidence)	QKI	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	RAB27A	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Griscelli syndrome, type 2, 607624 Tags
Red Red List (low evidence)	RAB40AL	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked, syndromic, Martin-Probst type, 300519 Tags
Red Red List (low evidence)	RABL6	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	RAD50	5 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome-like disorder, OMIM:613078 Tags
Red Red List (low evidence)	RAD51C	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP 0 Tags
Red Red List (low evidence)	RALGDS	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	RANBP17	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RANBP2	5 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033 Tags
Red Red List (low evidence)	RAPGEF1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	RAPSN	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 Tags
Red Red List (low evidence)	RASA1	5 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkes Weber syndrome, 608355 Capillary malformation-arteriovenous malformation, 608354 Basal cell carcinoma, somatic, 605462 Tags
Red Red List (low evidence)	RBFOX1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RBM28	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Alopecia, neurologic defects, and endocrinopathy syndrome,612079 Intellectual disability Tags
Red Red List (low evidence)	RBM8A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	RECQL4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	REEP1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 ?Neuronopathy, distal hereditary motor, type VB, 614751 Tags
Red Red List (low evidence)	REEP2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ?Spastic paraplegia 72, autosomal recessive, 615625 ?Spastic paraplegia 72, autosomal dominant, 615625 Tags
Red Red List (low evidence)	RENBP	3 reviews 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 Red Tags
Red Red List (low evidence)	RET	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype both DD and IF gene with ID HPO Tags
Red Red List (low evidence)	RETREG1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 Tags
Red Red List (low evidence)	RFX6	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Mitchell-Riley syndrome, 615710 Tags
Red Red List (low evidence)	RGN	3 reviews 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 Red Tags
Red Red List (low evidence)	RGS7	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	RIMS1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	RING1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes microcephaly intellectual disability Tags
Red Red List (low evidence)	RIPK4	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Popliteal pterygium syndrome 2, lethal type, 263650 Tags
Red Red List (low evidence)	RNF135	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 Tags
Red Red List (low evidence)	RNF168	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes RIDDLE syndrome, 611943 Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome Tags
Red Red List (low evidence)	RNF216	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Gordon Holmes syndrome Tags
Red Red List (low evidence)	ROBO3	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gaze palsy, horizontal, with progressive scoliosis, 607313 Tags
Red Red List (low evidence)	ROR2	6 reviews 1 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Brachydactyly, type B1, OMIM:113000 (AD) Robinow syndrome, autosomal recessive, OMIM:268310 (AR) Tags
Red Red List (low evidence)	RORB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 Tags
Red Red List (low evidence)	RPE65	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Leber congenital amaurosis 2, 204100 Retinitis pigmentosa 20, 613794 Tags
Red Red List (low evidence)	RPGR	3 reviews 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 Red Tags
Red Red List (low evidence)	RPGRIP1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194 Tags
Red Red List (low evidence)	RPS19	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Diamond-Blackfan anemia 1, 105650 Tags
Red Red List (low evidence)	RRAS	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Atypical Noonan syndrome Noonan syndrome-like Tags
Red Red List (low evidence)	RSPH1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 24, 615481 Tags
Red Red List (low evidence)	RSPH3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes NA Tags
Red Red List (low evidence)	RSPO4	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Anonychia congenita, 206800 Tags
Red Red List (low evidence)	RTL9	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 Red Tags
Red Red List (low evidence)	RTN2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic paraplegia 12, autosomal dominant, 604805 Tags
Red Red List (low evidence)	RUBCN	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 Tags founder-effect
Red Red List (low evidence)	RUNX2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cleidocranial dysplasia, 119600 Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 Tags
Red Red List (low evidence)	RYR1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	RYR3	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Red Red List (low evidence)	SALL4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Duane-radial ray syndrome, 607323 IVIC syndrome, 147750 Tags
Red Red List (low evidence)	SAMD9L	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red Red List (low evidence)	SBDS	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Shwachman-Bodian-Diamond syndrome, 260400 Tags
Red Red List (low evidence)	SBF2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 Tags
Red Red List (low evidence)	SCARB2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 Tags
Red Red List (low evidence)	SCARF2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Van den Ende-Gupta syndrome, 600920 Tags
Red Red List (low evidence)	SCN11A	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548 Episodic pain syndrome, familial, 3, 615552 Tags
Red Red List (low evidence)	SCN4A	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Hyperkalemic periodic paralysis, type 2, 170500 Paramyotonia congenita, 168300 Myotonia congenita, atypical, acetazolamide-responsive, 608390 Myasthenic syndrome, acetazolamide-responsive, 614198 Hypokalemic periodic paralysis, type 2, 613345 Tags
Red Red List (low evidence)	SCN9A	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Erythermalgia, primary, 133020 Paroxysmal extreme pain disorder, 167400, Insensitivity to pain, congenital, 243000 Febrile seizures, familial, 3B, 613863 Epilepsy, generalized, with febrile seizures plus, type 7, 613863 Small fiber neuropathy, 133020 {Dravet syndrome, modifier of}, 607208 HSAN2D, autosomal recessive, 243000 Tags
Red Red List (low evidence)	SCO1	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 Tags
Red Red List (low evidence)	SCRIB	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes 8Q24.3 DELETION-LIKE Tags
Red Red List (low evidence)	SEC23B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dyserythropoietic anemia, congenital, type II, OMIM:224100 Tags
Red Red List (low evidence)	SELENOI	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SEMA3E	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Severe Intellectual Disability with Cognitive Regression Tags
Red Red List (low evidence)	SETDB2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	SETX	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ataxia-ocular apraxia-2, 606002 Amyotrophic lateral sclerosis 4, juvenile, 602433 Tags
Red Red List (low evidence)	SF3B4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	SGCA	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SGCE	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dystonia-11, myoclonic, 159900 Tags
Red Red List (low evidence)	SH3PXD2B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Frank-ter Haar syndrome, 249420 Tags
Red Red List (low evidence)	SH3TC2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4C, 601596 Mononeuropathy of the median nerve, mild, 613353 Tags
Red Red List (low evidence)	SHOX	5 reviews 1 green 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Langer mesomelic dysplasia, OMIM:249700 (PR) Leri-Weill dyschondrosteosis, OMIM:127300 (PD) Short stature, idiopathic familial, OMIM:300582 Tags microdeletion Pseudoautosomal region 1
Red Red List (low evidence)	SHROOM2	3 reviews 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 Red Tags
Red Red List (low evidence)	SIGMAR1	2 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis 16, juvenile, 614373 Tags
Red Red List (low evidence)	SIX1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Brachiootic syndrome 3, 608389 Deafness, autosomal dominant 23, 605192 Tags
Red Red List (low evidence)	SIX5	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Branchiootorenal syndrome 2, 610896 Tags
Red Red List (low evidence)	SKIV2L	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Trichohepatoenteric syndrome 2, 614602 Tags new-gene-name
Red Red List (low evidence)	SLC20A2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Basal ganglia calcification, idiopathic, 1 13600 Idiopathic basal ganglia calcification, adult onset Basal ganglia calcification, idiopathic, childhood onset Tags
Red Red List (low evidence)	SLC22A5	7 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 systemic primary carnitine deficiency disease, MONDO:0008919 Tags
Red Red List (low evidence)	SLC25A13	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SLC25A19	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Microcephaly, Amish type, 607196 Tags
Red Red List (low evidence)	SLC25A20	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY Tags
Red Red List (low evidence)	SLC25A24	0 reviews	Not set	Sources Victorian Clinical Genetics Services Phenotypes Fontaine progeroid syndrome, OMIM 612289 Fontaine progeroid syndrome, MONDO:0012853 Tags
Red Red List (low evidence)	SLC25A53	3 reviews 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 Red Tags
Red Red List (low evidence)	SLC25A6	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 1
Red Red List (low evidence)	SLC26A9	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	SLC2A10	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	SLC31A1	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	SLC35F1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated Rett-like syndrome Tags
Red Red List (low evidence)	SLC52A3	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 Tags
Red Red List (low evidence)	SLC5A2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SLC6A4	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SLC6A5	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes hyperekplexia (MIM:614618) and intellectual disability Tags
Red Red List (low evidence)	SLC7A7	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SLC9A9	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {?Autism susceptibility 16}, 613410 Tags
Red Red List (low evidence)	SMARCA1	3 reviews 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Other Phenotypes Coffin-Siris Syndrome ORPHA1465 Tags
Red Red List (low evidence)	SMARCAL1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 Tags
Red Red List (low evidence)	SMARCC1	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SMARCD3	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	SMCHD1	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 Tags
Red Red List (low evidence)	SMO	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags
Red Red List (low evidence)	SNCA	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease 4, 605543 Dementia, Lewy body, 127750 Parkinson disease 1, 168601 Tags
Red Red List (low evidence)	SNTG1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	SNX3	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) mental retardation Tags structural-variant
Red Red List (low evidence)	SOBP	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes syndromic and nonsyndromic ID with psychosis Mental retardation, anterior maxillary protrusion, and strabismus, 613671 MRAMS Tags watchlist
Red Red List (low evidence)	SOX17	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Vesicoureteral reflux 3, 613674 Tags
Red Red List (low evidence)	SPAG1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 28, 615505 Tags
Red Red List (low evidence)	SPAST	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 4, autosomal dominant, 182601 Tags
Red Red List (low evidence)	SPEG	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Centronuclear myopathy 5 ( 615959) Tags
Red Red List (low evidence)	SPG21	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Mast syndrome, 248900 Tags
Red Red List (low evidence)	SPG7	4 reviews 1 green 1 red	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 Red Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags
Red Red List (low evidence)	SPRTN	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SPRY3	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 2
Red Red List (low evidence)	SPTLC1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SPTLC2	4 reviews 1 green 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 Tags
Red Red List (low evidence)	SREBF2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	SRPX2	5 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 Tags
Red Red List (low evidence)	SRY	4 reviews 1 green 1 red	Other - please specifiy in evaluation comments	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes 46XY SEX REVERSAL 1 Tags y-chromosome
Red Red List (low evidence)	STAB2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	STAR	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Lipoid adrenal hyperplasia, 201710 Tags
Red Red List (low evidence)	STARD8	3 reviews 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 Red Tags
Red Red List (low evidence)	STAT1	5 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 Immunodeficiency 31C, autosomal dominant, 614162 Tags
Red Red List (low evidence)	STAT5B	0 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 Tags
Red Red List (low evidence)	STS	5 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	STT3B	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes ?Congenital disorder of glycosylation, type Ix, 615597 developmental delay intellectual disability Tags
Red Red List (low evidence)	STUB1	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768 autosomal recessive spinocerebellar ataxia 16, MONDO:0014339 Spinocerebellar ataxia 48, OMIM:618093 spinocerebellar ataxia 48, MONDO:0032526 Tags
Red Red List (low evidence)	STX11	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	STX3	1 review	Unknown	Sources Other Tags watchlist
Red Red List (low evidence)	SYNE1	5 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 Spinocerebellar ataxia, autosomal recessive 8, 610743 intellectual disability Tags
Red Red List (low evidence)	SYNE2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes autism spectrum disorder, developmental delay and intellectual disability Tags
Red Red List (low evidence)	SYT14	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes psychomotor retardation Tags structural-variant
Red Red List (low evidence)	SYTL4	3 reviews 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 Red Tags
Red Red List (low evidence)	SYTL5	3 reviews 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 Red Tags
Red Red List (low evidence)	TACO1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, 220110 (includes mild to moderate developmental delay and intellectual disability) Tags
Red Red List (low evidence)	TAF7L	3 reviews 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 Red Tags
Red Red List (low evidence)	TARDBP	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069 Frontotemporal lobar degeneration, TARDBP-related, 612069 Tags
Red Red List (low evidence)	TBC1D8B	3 reviews 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 Red Tags
Red Red List (low evidence)	TBP	4 reviews 1 green 1 red	Other	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 17, OMIM:607136 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	TBX15	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cousin Syndrome Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature Tags
Red Red List (low evidence)	TBX20	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Atrial septal defect 4, 611363 Tags
Red Red List (low evidence)	TBX22	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cleft palate with ankyloglossia, 303400 ?Abruzzo-Erickson syndrome, 302905 Tags
Red Red List (low evidence)	TBX3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ulnar-mammary syndrome, 181450 Tags
Red Red List (low evidence)	TBX4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Small patella syndrome, 147891 Tags
Red Red List (low evidence)	TBX5	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Holt-Oram syndrome, 142900 Tags
Red Red List (low evidence)	TBXAS1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ghosal hematodiaphyseal syndrome, OMIM:231095 Tags
Red Red List (low evidence)	TCEAL3	3 reviews 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 Red Tags
Red Red List (low evidence)	TCF12	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Craniosynostosis 3, 615314 Tags
Red Red List (low evidence)	TCOF1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	TCP10L2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	TCTN1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Joubert syndrome 13, 614173 intellectual disability Tags watchlist
Red Red List (low evidence)	TECR	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes non-syndromic mental retardation Tags founder-effect
Red Red List (low evidence)	TEK	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Venous malformations, multiple cutaneous and mucosal, 600195 Tags
Red Red List (low evidence)	TENM1	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	TEPSIN	4 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	TFAP2A	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Branchiooculofacial syndrome, 113620 Tags
Red Red List (low evidence)	TFAP2B	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Char syndrome, 169100 Tags
Red Red List (low evidence)	TFB2M	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Intellectual disability Tags
Red Red List (low evidence)	TFG	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags
Red Red List (low evidence)	TGDS	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Catel-Manzke syndrome, 616145 Tags
Red Red List (low evidence)	TGFB2	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Loeys-Dietz syndrome, type 4, 614816 Tags
Red Red List (low evidence)	TGFB3	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Arrhythmogenic right ventricular dysplasia 1, 107970 ?Rienhoff syndrome, 615582 Tags
Red Red List (low evidence)	TGFBR1	4 reviews 1 green 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 1, 609192 (includes uncommon developmental delay and mental retardation) Tags
Red Red List (low evidence)	TGFBR2	4 reviews 1 green 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Loeys-Dietz syndrome 2, 610168 Tags
Red Red List (low evidence)	TGM6	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 35, 613908 Tags
Red Red List (low evidence)	THAP1	5 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes DYSTONIA 6, TORSION Tags
Red Red List (low evidence)	TIMM8A	5 reviews 3 green 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Deafness, X-linked 1, progressiveMohr-Tranebjaerg syndrome, 304700Jensen syndrome, 311150 JENSEN SYNDROME Tags
Red Red List (low evidence)	TINF2	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 3, 613990 Revesz syndrome, 268130 Tags
Red Red List (low evidence)	TK2	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags
Red Red List (low evidence)	TKTL1	3 reviews 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 Red Tags
Red Red List (low evidence)	TLR8	3 reviews 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 Red Tags
Red Red List (low evidence)	TM4SF20	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes early language delay {Specific language impairment 5}, 615432 Tags
Red Red List (low evidence)	TMEM126B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Muscle Weakness and Isolated Complex I Deficiency Tags
Red Red List (low evidence)	TMEM132E	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	TMEM135	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	TMEM260	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TMLHE	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability) Tags
Red Red List (low evidence)	TMPRSS6	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Iron-refractory iron deficiency anemia, 206200 Tags
Red Red List (low evidence)	TMPRSS9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Progressive intellectual and neurological deterioration Global developmental delay Intellectual disability Autism Epilepsy Tags watchlist
Red Red List (low evidence)	TNKS2	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	TP63	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes ADULT syndrome, OMIM:103285 Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Hay-Wells syndrome, OMIM:106260 Limb-mammary syndrome, OMIM:603543 Orofacial cleft 8, OMIM:618149 Rapp-Hodgkin syndrome, OMIM:129400 Split-hand/foot malformation 4, OMIM:605289 Tags
Red Red List (low evidence)	TPH2	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TPK1	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TPR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red Red List (low evidence)	TRAPPC2	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes NA Tags
Red Red List (low evidence)	TRAPPC6A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual disability dysmorphic features Tags
Red Red List (low evidence)	TREX2	3 reviews 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 Red Tags
Red Red List (low evidence)	TRHR	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TRIM32	7 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Bardet-Biedl syndrome 11, 615988 Tags
Red Red List (low evidence)	TRIM37	6 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MULIBREY NANISM MUL Muscle-liver-brain-eye nanism Tags
Red Red List (low evidence)	TRIP11	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Achondrogenesis, type IA, 200600 Tags
Red Red List (low evidence)	TRIP13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Victorian Clinical Genetics Services Phenotypes Mosaic variegated aneuploidy syndrome 3 617598 Tags watchlist
Red Red List (low evidence)	TRPM1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 Tags
Red Red List (low evidence)	TRPS1	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Trichorhinophalangeal syndrome, type I, 190350 Trichorhinophalangeal syndrome, type III, 190351 Tags
Red Red List (low evidence)	TRPV4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Brachyolmia type 3, 113500 Spondylometaphyseal dysplasia, Kozlowski type, 184252 Metatropic dysplasia, 156530 Hereditary motor and sensory neuropathy, type IIc, 606071 Scapuloperoneal spinal muscular atrophy, 181405 [Sodium serum level QTL 1], 613508 Parastremmatic dwarfism, 168400 SED, Maroteaux type, 184095 Spinal muscular atrophy, distal, congenital nonprogressive, 600175 Digital arthropathy-brachydactyly, familial, 606835 Tags
Red Red List (low evidence)	TSC22D3	3 reviews 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 Red Tags
Red Red List (low evidence)	TSHR	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypothyroidism, congenital, nongoitrous, 1 275200 Thyroid adenoma, hyperfunctioning, somatic Hyperthyroidism, nonautoimmune, 609152 Thyroid carcinoma with thyrotoxicosis Hyperthyroidism, familial gestational, 603373 Tags
Red Red List (low evidence)	TSPAN8	1 review	Unknown	Sources Other Tags watchlist
Red Red List (low evidence)	TTBK2	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Spinocerebellar ataxia 11, 604432 Tags
Red Red List (low evidence)	TTC7A	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Intestinal atresia, multiple, 243150 Tags
Red Red List (low evidence)	TTN	1 review 1 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	TTPA	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ataxia with isolated vitamin E deficiency, 277460 Tags
Red Red List (low evidence)	TTR	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	TUBA8	6 reviews 3 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Polymicrogyria with optic nerve hypoplasia, 613180 POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA (PMGONH) Tags watchlist
Red Red List (low evidence)	TUBAL3	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes intellectual disability/developmental delay with cognitive impairment Tags
Red Red List (low evidence)	TUFM	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 4, 610678 Tags
Red Red List (low evidence)	TXNL4A	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Victorian Clinical Genetics Services Phenotypes Burn-McKeown syndrome, 608572 Tags
Red Red List (low evidence)	TYR	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Albinism, oculocutaneous, type IA, OMIM:203100 Albinism, oculocutaneous, type IB, OMIM:606952 Waardenburg syndrome/albinism, digenic, OMIM:103470 Tags
Red Red List (low evidence)	TYRP1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Albinism, oculocutaneous, type III, 203290 [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 Tags
Red Red List (low evidence)	UBE2U	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Retinoschisis, MONDO:0004579 cataracts learning disability, MONDO:0004681 developmental delay Tags
Red Red List (low evidence)	UBR4	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	UGT1A1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes NA Tags
Red Red List (low evidence)	UNC13A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	UQCRB	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 Tags
Red Red List (low evidence)	UQCRQ	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Mitochondrial complex III deficiency, nuclear type 4, 615159 Tags
Red Red List (low evidence)	UROS	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Porphyria, congenital erythropoietic, 263700 Tags
Red Red List (low evidence)	USB1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Poikiloderma with neutropenia Tags
Red Red List (low evidence)	USP18	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pseudo-TORCH syndrome 2, 617397 Tags treatable
Red Red List (low evidence)	UTP14A	3 reviews 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 Red Tags
Red Red List (low evidence)	UVSSA	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes UV-sensitive syndrome 3, 614640 Tags
Red Red List (low evidence)	VAMP1	8 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Myasthenic syndrome, congenital, 25, 618323 Tags
Red Red List (low evidence)	VAMP7	4 reviews 3 red	Unknown	Sources Expert Review Red Tags Pseudoautosomal region 2
Red Red List (low evidence)	VDR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	VIP	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Asperger syndrome Tags
Red Red List (low evidence)	VPS35	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Parkinson disease 17, 614203 Tags
Red Red List (low evidence)	VSX2	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Microphthalmia with coloboma 3, 610092 Microphthalmia, isolated 2, 610093 Tags
Red Red List (low evidence)	WDR13	3 reviews 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 Red Phenotypes X-linked intellectual disability XLID Tags
Red Red List (low evidence)	WDR19	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Nephronophthisis 13, 614377 Cranioectodermal dysplasia 4, 614378 Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Tags
Red Red List (low evidence)	WDR34	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Red Red List (low evidence)	WDR35	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Cranioectodermal dysplasia 2, 613610 Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Tags
Red Red List (low evidence)	WDR60	6 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes JEUNE SYNDROMES Tags new-gene-name
Red Red List (low evidence)	WDR83OS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Intellectual disability Tags
Red Red List (low evidence)	WFS1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Phenotypes Wolfram syndrome 1, 222300 Wolfram-like syndrome, autosomal dominant, 614296 Tags
Red Red List (low evidence)	WNT10B	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Split-hand/foot malformation 6, 225300 Tags
Red Red List (low evidence)	WNT3	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Tetra-amelia, autosomal recessive, 273395 Tags
Red Red List (low evidence)	WNT4	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM Tags
Red Red List (low evidence)	WNT5A	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Gene2Phenotype confirmed gene with ID HPO Tags
Red Red List (low evidence)	WNT7A	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820 Fuhrmann syndrome, 228930 Tags
Red Red List (low evidence)	WRAP53	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 Tags
Red Red List (low evidence)	WRN	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	WT1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Wilms tumor, type 1, 194070 Denys-Drash syndrome, 194080 Nephrotic syndrome, type 4, 256370 Frasier syndrome, 136680 Meacham syndrome, 608978 Mesothelioma, somatic, 156240 Tags
Red Red List (low evidence)	WWC3	3 reviews 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 Red Tags
Red Red List (low evidence)	XIAP	3 reviews 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 Red Tags
Red Red List (low evidence)	XIST	0 reviews	Not set	Sources Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	XK	3 reviews 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 Red Phenotypes X-linked mental retardation Tags
Red Red List (low evidence)	XKRX	3 reviews 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 Red Tags
Red Red List (low evidence)	XPC	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Xeroderma pigmentosum, group C, 278720 Tags
Red Red List (low evidence)	XPNPEP3	4 reviews 4 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Red Red List (low evidence)	YAP1	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 Tags
Red Red List (low evidence)	YWHAZ	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Intellectual disability, MONDO:0001071 Tags
Red Red List (low evidence)	ZBTB16	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Skeletal defects, genital hypoplasia, and mental retardation, 612447 Tags
Red Red List (low evidence)	ZBTB40	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ZCCHC12	3 reviews 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 Red Phenotypes nonsyndromic X-linked mental retardation XLMR Tags
Red Red List (low evidence)	ZCCHC8	3 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Red Red List (low evidence)	ZDHHC15	5 reviews 4 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 Red Phenotypes cerebral palsy intellectual disability autism spectrum disorder epilepsy Tags
Red Red List (low evidence)	ZIC3	4 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Heterotaxy, visceral, 1, X-linked 306955 Congenital heart defects, nonsyndromic, 1, X-linked, 306955 VACTERL association, X-linked, 314390 Tags
Red Red List (low evidence)	ZMPSTE24	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Red Phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612 Restrictive dermopathy, lethal, 275210 Tags
Red Red List (low evidence)	ZMYM6	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes INTELLECTUAL DISABILITY Tags
Red Red List (low evidence)	ZMYND12	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	ZNF41	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 89, 300848 Mental Retardation, X-linked Tags
Red Red List (low evidence)	ZNF425	3 reviews 3 red	Not set	Sources Expert Review Red Tags
Red Red List (low evidence)	ZNF592	3 reviews 3 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Spinocerebellar ataxia, autosomal recessive 5, 606937 Tags
Red Red List (low evidence)	ZNF599	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes ?Chromosome 19q13.11 deletion syndrome, distal, 613026 (includes intellectual disability and developmental delay) Tags
Red Red List (low evidence)	ZNF674	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 92, 300851 Tags
Red Red List (low evidence)	ZNF713	3 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes AUTISM Tags
Red Red List (low evidence)	ZNF81	3 reviews 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Victorian Clinical Genetics Services Phenotypes Mental Retardation, X-linked Mental retardation, X-linked 45, 300498 Tags
No list No list	ATXN10_ATTCT STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 10, OMIM:603516 Tags curated_removed STR
No list No list	ATXN1_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags curated_removed STR
No list No list	ATXN2_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 2, OMIM:183090 {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags curated_removed STR
No list No list	ATXN3_CAG STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Machado-Joseph disease, OMIM:109150 Tags curated_removed STR
No list No list	ATXN7_CAG STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags curated_removed STR
No list No list	C9orf72_GGGGCC STR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 Tags curated_removed STR
No list No list	CSTB_CCCCGCCCCGCG STR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags curated_removed STR
No list No list	FXN_GAA STR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed NHS GMS Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags curated_removed STR
No list No list	PPP2R2B_CAG STR	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed NHS GMS Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags curated_removed STR
No list No list	ZMYND15	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes ?Spermatogenic failure 14, OMIM:615842 Tags curated_removed

Major version comments

2023-03-22 14:51 Arina Puzriakova (Genomics England Curator) promoted panel to 5.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (5.0) following this.

2022-11-30 13:55 Eleanor Williams (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2019-12-10 12:55 Rebecca Foulger (Genomics England curator) promoted panel to 3.0
The content of this panel (version 2.1135) was signed off under NHS Genomic Medicine Service governance on (10/December/2019). The panel was promoted to the next major version (version 3.0) as a result of this.

2018-03-12 19:00 Ellen McDonagh (Genomics England Curator) promoted panel to 2.0
12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

23.02.2016: Revised and approved to Version 1.0 after expert and internal review.

Intellectual disability - microarray and sequencing (Version 5.532)

67 reviewers

2753 Entities

2685 reviewed, 1427 green

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