1. Panels
  2. Intellectual disability
The latest signed off version for the GMS is v9.0. The current version, shown here, may differ from the signed-off version.

Intellectual disability (Version 9.293)

Level 2: Developmental 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 - microarray and sequencing, R29
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Latest signed off version: v9.0 (30 Apr 2025)
Previously signed off versions: v8.0, v7.0, v6.0, v5.0, 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' 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'.

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

88 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

  • Mary Reilly (Institute of Neurology)

    Group: GeCIP domain
    Workplace: Other clinical service

  • Alexander Rossor (UCL Institute of Neurology)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Rita Horvath (Institute of Genetic Medicine, Newcastle University)

    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

  • Frances Elmslie (South West Thames Regional genetics service)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Karen Stals (Royal Devon and Exeter 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

  • John Taylor (Oxford Medical Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Natalie Forrester (SWGLH - Bristol Genetics)

    Group: NHS Genomic Medicine Centre
    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

  • Hannah Robinson (South West Genomic Laboratory Hub)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Celia Duff-Farrier (North Bristol NHS Trust)

    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

  • Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Shahryar Alavi (UCL Queen Square Institute of Neurology)

    Group: Other
    Workplace: Other diagnostic lab

  • Julia Baptista (Faculty of Health, University of Plymouth)

    Group: Other
    Workplace: Other

  • Hayley Lees (NHS)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Jana Jezkova (All Wales Medical Genomics Service)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Sarah Dixon (Leeds Teaching Hospitals NHS Trust)

    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

  • Miel Theunis (UZ Leuven)

    Group: Other
    Workplace: Other clinical service

  • 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

  • Andrew Mumford (University of Bristol)

    Group: GeCIP domain
    Workplace: Research lab

  • Tom Hodgkinson (Leeds Teaching Hospitals NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Riyaad Aungraheeta (Bristol Genetics Laboratory)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Cassandra Smith (Genomics England)

    Group: Other
    Workplace: Other

  • Sharon Whatley (International Porphyria Network)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sahana Chatakondu (Cambridge University Hospitals NHS Foundation Trust)

    Group: Other NHS organisation
    Workplace: NHS diagnostic lab

  • Sophie Ellis (North East & Yorkshire Genomic Laboratory Hub)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

2902 Entities

2834 reviewed, 1527 green

List Entity Reviews Mode of inheritance Details
2902 Entitiess
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 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 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 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 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 List (high evidence)
ABCC9
10 reviews
4 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • 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
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, OMIM:300100
  • Adrenoleukodystrophy, adult, OMIM:300100
Tags
  • gene-therapy-trial
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 List (high evidence)
ABHD16A
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia
  • Intellectual disability
Tags
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 List (high evidence)
ACACA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Acetyl-CoA carboxylase deficiency, OMIM: 613933
Tags
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 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 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 List (high evidence)
ACBD6
6 reviews
2 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
ADGRL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065
Tags
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 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 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 List (high evidence)
AFF2
5 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
  • Intellectual developmental disorder, X-linked 109, OMIM:309548
  • FRAXE intellectual disability, MONDO:0010659
Tags
  • nucleotide-repeat-expansion
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 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 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 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 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 List (high evidence)
AGTPBP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar atrophy, OMIM:618276
Tags
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 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 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 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 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 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 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 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 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 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 List (high evidence)
ALDH7A1
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PYRIDOXINE-DEPENDENT EPILEPSY
Tags
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 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 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 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 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 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 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 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 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 List (high evidence)
ALMS1
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ALSTROM SYNDROME, 203800
Tags
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 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 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 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 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 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 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 List (high evidence)
ANO4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • sporadic encephalopathic and familial epilepsy
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
ARF3
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Global developmental delay
  • Intellectual disability, MONDO:0001071
  • Seizures
  • Morphological abnormality of the central nervous system
  • microcephaly, MONDO:0001149
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 List (high evidence)
ARMC9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome
  • Intellectual Disability
Tags
Green List (high evidence)
ARSA
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ARYLSULFATASE A DEFICIENCY
Tags
Green List (high evidence)
ARSB
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 6 (MPS6)
Tags
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 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 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 List (high evidence)
ASAH1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • FARBER LIPOGRANULOMATOSIS
Tags
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 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 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 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 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 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 List (high evidence)
ASXL1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bohring-Opitz syndrome, OMIM:605039
  • Bohring-Opitz syndrome, MONDO:0011510
Tags
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 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 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 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 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 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 List (high evidence)
ATM
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia, OMIM:208900
Tags
  • Q2_25_ demote_red
  • Q2_25_expert_review
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 List (high evidence)
ATP13A2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PARKINSON DISEASE 9
Tags
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 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 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 List (high evidence)
ATP2B1
4 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 66, OMIM:619910
Tags
  • watchlist_moi
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 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 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 List (high evidence)
ATP6V0C
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465
Tags
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 List (high evidence)
ATP6V1B2
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • ZIMMERMANN-LABAND SYNDROME
Tags
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 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 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 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, OMIM:210600
Tags
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 List (high evidence)
ATXN7L3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • syndromic neurodevelopmental disorder
Tags
  • gene-checked
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 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 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 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 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 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 List (high evidence)
B9D1
7 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
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 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 List (high evidence)
BAZ2B
2 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 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 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 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 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 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 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 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 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 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 List (high evidence)
BCAS3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic neurodevelopmental disorder
Tags
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
BOLA3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
Tags
Green List (high evidence)
BORCS8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
CAMK2D
1 review
1 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 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 List (high evidence)
CAMSAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316
Tags
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 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 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 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 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 List (high evidence)
CASP2
5 reviews
3 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
Tags
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 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 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 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 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 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 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 List (high evidence)
CCDC47
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichohepatoneurodevelopmental syndrome, OMIM:618268
Tags
  • gene-checked
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 List (high evidence)
CCDC88A
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • PEHO syndrome-like, OMIM:617507
Tags
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 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 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 List (high evidence)
CDC6
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meier-Gorlin syndrome 5, OMIM:613805
Tags
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 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 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 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 List (high evidence)
CDK16
3 reviews
1 green 2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual disability, MONDO:0001071
Tags
  • gene-checked
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 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 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 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 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 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 List (high evidence)
CENPF
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Stromme syndrome, OMIM:243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green List (high evidence)
CENPJ
4 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
  • new-gene-name
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
CHMP1A
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 8 614961
Tags
Green List (high evidence)
CIAO1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960
Tags
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 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 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 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 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 List (high evidence)
CLCN6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173
Tags
Green List (high evidence)
CLDN11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Leukodystrophy, hypomyelinating, 22, OMIM:619328
Tags
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 List (high evidence)
CLEC16A
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • severe neurodevelopmental disorder including microcephaly, brain atrophy, corpus callosum dysgenesis, and growth retardation
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
CNOT9
2 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
COX11
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
  • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
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 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 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 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 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 List (high evidence)
CRB2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Tags
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 List (high evidence)
CRELD1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
  • Intellectual developmental disorder, X-linked 107, OMIM:301013
Tags
  • gene-checked
  • new-gene-name
  • Skewed X-inactivation
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 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 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 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 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 List (high evidence)
DAGLA
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • intellectual disability, MONDO:0001071
Tags
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 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 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 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 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 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 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 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 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 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 List (high evidence)
DDX11
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • WARSAW BREAKAGE SYNDROME (WBRS)
Tags
Green List (high evidence)
DDX17
3 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 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 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 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 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 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 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 List (high evidence)
DENND5B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • DENND5B associated neurodevelopmental disorder
Tags
  • gene-checked
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 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 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 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 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 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 List (high evidence)
DHRSX
7 reviews
3 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type 1DD, OMIM:301133
Tags
  • gene-checked
  • Pseudoautosomal region 1
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 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 List (high evidence)
DHX37
5 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, MIM#618731
Tags
Green List (high evidence)
DHX9
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 75, OMIM:620988
Tags
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 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 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 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, OMIM:246900
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
DOCK4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neuronevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
DPYS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dihydropyrimidinuria, OMIM:222748
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
EIF4A2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder
Tags
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 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 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 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 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 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 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 List (high evidence)
EML1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, OMIM:600348
Tags
Green List (high evidence)
EMX2
6 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Schizencephaly, OMIM:269160
  • schizencephaly, MONDO:0010011
Tags
  • Q3_25_demote_amber
  • Q3_25_expert_review
  • Q3_25_NHS_review
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 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 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 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 List (high evidence)
ERCC1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Tags
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 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 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 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 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 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 List (high evidence)
ERI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • intellectual disability, MONDO:0001071
Tags
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 List (high evidence)
ESAM
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Tags
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 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 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 List (high evidence)
ETFDH
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GLUTARIC ACIDURIA TYPE 2C
Tags
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 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 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 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 List (high evidence)
EZH1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
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 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 List (high evidence)
FAM177A1
1 review
1 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 List (high evidence)
FAM20C
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • RAINE SYNDROME
Tags
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 List (high evidence)
FAR1
6 reviews
5 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Tags
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 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 List (high evidence)
FAT4
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PERIVENTRICULAR NEURONAL HETEROTOPIA
Tags
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 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 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 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 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 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 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 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 List (high evidence)
FEM1B
3 reviews
2 green 1 red 		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 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 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 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 List (high evidence)
FIBP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Thauvin-Robinet-Faivre syndrome, OMIM:617107
  • tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918
Tags
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 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
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 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 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 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 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 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 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 List (high evidence)
FOSL2
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Tags
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 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 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 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 List (high evidence)
FRA10AC1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Tags
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 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 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 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 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 List (high evidence)
FUK
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324
Tags
  • new-gene-name
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 List (high evidence)
FZR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Developmental and epileptic encephalopathy 109, OMIM:620145
Tags
Green List (high evidence)
GABBR2
6 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 59, OMIM:617904
  • eurodevelopmental disorder with poor language and loss of hand skills, OMIM:617903
Tags
  • missense
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 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 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 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 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 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 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 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 List (high evidence)
GALC
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Krabbe disease, OMIM:245200
Tags
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 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 List (high evidence)
GALT
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Galactosemia, OMIM:230400
Tags
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 List (high evidence)
GAN
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Giant axonal neuropathy-1, OMIM:256850
Tags
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 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 List (high evidence)
GCDH
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GLUTARICACIDEMIA TYPE 1
Tags
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 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 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 List (high evidence)
GEMIN4
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Tags
  • founder-effect
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
GLUL
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutamine deficiency, congenital, OMIM:610015
  • Developmental and epileptic encephalopathy 116, OMIM:620806
  • congenital brain dysgenesis due to glutamine synthetase deficiency, MONDO:0012393
  • developmental and epileptic encephalopathy 116, MONDO:0970945
Tags
  • Q1_26_MOI
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 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 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 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 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 List (high evidence)
GNAI2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Syndromic intellectual disability
Tags
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 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 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 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 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 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 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 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 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, OMIM:252940
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
GTF3C5
2 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
HDAC3
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
HGSNAT
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 3C (MPS3C)
Tags
Green List (high evidence)
HIBCH
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HIBCH DEFICIENCY
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
  • Developmental and epileptic encephalopathy 54, OMIM:617391
Tags
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 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 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 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 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 List (high evidence)
HSD17B10
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
  • HSD10 mitochondrial disease, OMIM:300438
Tags
Green List (high evidence)
HSD17B4
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PERRAULT SYNDROME
Tags
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 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 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 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 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 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 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 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 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 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 List (high evidence)
IFT172
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MAINZER-SALDINO SYNDROME
Tags
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
  • Insulin-like growth factor I deficiency, OMIM:608747
Tags
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 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 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 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 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 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 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 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 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 List (high evidence)
IREB2
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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
  • Q3_25_demote_red
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
  • Q3_25_demote_red
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
  • Q3_25_demote_red
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
  • Q3_25_demote_red
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 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 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 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 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 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 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 List (high evidence)
DLK1-MEG3 Intergenic Region Loss
ISCA-37447-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Kagami-Ogata syndrome, OMIM:608149
  • Temple syndrome, OMIM:616222
Tags
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss
ISCA-46292-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Tags
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 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 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 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 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 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 List (high evidence)
Xq25 region (includes STAG2) Gain
ISCA-46743-Gain
Region
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ClinGen
  • Expert Review Green
Tags
Green List (high evidence)
Xq25 region (includes STAG2) Loss
ISCA-46743-Loss
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 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 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 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 List (high evidence)
ITSN1
2 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 List (high evidence)
IVD
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ISOVALERIC ACIDEMIA
Tags
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 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 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 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 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 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 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 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 List (high evidence)
KCNA2
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY.
Tags
Green List (high evidence)
KCNA3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
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 List (high evidence)
KCNB2
2 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 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 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 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 List (high evidence)
KCNH5
6 reviews
3 green 3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental and epileptic encephalopathy 112, OMIM:620537
Tags
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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
KCNT2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 57, OMIM:617771 developmental and epileptic encephalopathy, 57, MONDO:0033366
Tags
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 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 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 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 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 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 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
  • El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820
Tags
Green List (high evidence)
KDM5B
9 reviews
5 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
  • Q2_25_expert_review
  • Q2_25_ MOI
  • Q2_25_ NHS_review
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
KIRREL3
12 reviews
3 green 5 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
  • disputed
  • gene-checked
  • Q3_25_demote_red
  • Q3_25_expert_review
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 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 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 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 List (high evidence)
KMT2B
8 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dystonia 28, childhood-onset, OMIM:617284
  • Intellectual developmental disorder, autosomal dominant 68, OMIM:619934
Tags
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
LAMB1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 5, OMIM:615191
Tags
Green List (high evidence)
LAMC3
5 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical malformations, occipital, OMIM:614115
  • occipital pachygyria and polymicrogyria, MONDO:0013583
Tags
  • Q3_25_demote_red
  • Q3_25_expert_review
  • Q3_25_MOI
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 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 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 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 List (high evidence)
LETM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089
Tags
Green List (high evidence)
LGI3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Tags
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 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 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, OMIM:606593
Tags
Green List (high evidence)
LINC01578
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, OMIM:621012
Tags
  • gene-checked
  • locus-type-rna-long-non-coding
  • new-gene-name
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 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 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 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 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 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 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 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 List (high evidence)
LRRC7
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
MAPK1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan syndrome 13, OMIM:619087
Tags
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 List (high evidence)
MAPKAPK5
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurocardiofaciodigital syndrome, OMIM:619869
Tags
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 List (high evidence)
MARK2
3 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 List (high evidence)
MASP1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3MC SYNDROME 1
  • 3MC1
Tags
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 List (high evidence)
MAST3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Tags
Green List (high evidence)
MAST4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder MONDO:0700092, MAST4-related
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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
  • Encephalopathy, neonatal severe, OMIM:300673
  • Intellectual developmental disorder, X-linked syndromic 13, OMIM:300055
  • Intellectual developmental disorder, X-linked syndromic, Lubs type, OMIM:300260
  • Rett syndrome, OMIM:312750
  • Rett syndrome, atypical, OMIM:312750
  • Rett syndrome, preserved speech variant, OMIM:312750
Tags
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
METTL5
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 72, OMIM:618665
Tags
  • gene-checked
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 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 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 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 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 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 List (high evidence)
MINPP1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia
Tags
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 List (high evidence)
MKS1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MECKEL SYNDROME TYPE 1 (MKS1)
Tags
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 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 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 List (high evidence)
MMAB
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • METHYLMALONIC ACIDURIA TYPE CBLB
Tags
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 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 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 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 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 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 List (high evidence)
MORC2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688
  • Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, OMIM:619090
Tags
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 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 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 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 List (high evidence)
MRPS34
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidativephosphorylation deficiency 32, 617664
Tags
Green List (high evidence)
MSL2
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
MYH10
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Gene2Phenotype
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
  • MYH10-related Multiple congenital anomalies
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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, OMIM:256550
  • Sialidosis, type II, OMIM:256550
Tags
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 List (high evidence)
NEUROG1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay, OMIM:620469
Tags
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 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 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 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 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 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 List (high evidence)
NGLY1
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CONGENITAL DISORDER OF DEGLYCOSYLATION
  • CDDG
Tags
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 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 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 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 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 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 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 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 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 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 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-Schaaf optic atrophy syndrome, OMIM:615722
Tags
Green List (high evidence)
NR2F2
7 reviews
4 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital heart defects, multiple types, 4, 615779
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
ODC1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Bachmann-Bupp syndrome, OMIM:619075
Tags
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 List (high evidence)
OGDHL
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
Tags
  • gene-checked
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 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 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 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 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 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 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 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
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 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 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 List (high evidence)
PABPC1
4 reviews
2 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Global developmental delay
  • Expressive language delay
  • Intellectual disability
  • Behavioral abnormality
  • Seizures
Tags
  • dd_review
  • gene-checked
  • Q4_24_MOI
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 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 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 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 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 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 List (high evidence)
PAN2
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Tags
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 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 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 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 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 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 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 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 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 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 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, OMIM:210720
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
PEX14
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ZELLWEGER SYNDROME (ZWS)
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
PI4K2A
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Tags
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 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 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 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 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 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 List (high evidence)
PIGG
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
PIP5K1C
2 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
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 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 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 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 List (high evidence)
PLEKHG2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Leukodystrophy and acquired microcephaly with or without dystonia, OMIM:616763
  • leukodystrophy and acquired microcephaly with or without dystonia
  • MONDO:0014766
Tags
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 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 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 List (high evidence)
PLPBP
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, 617290
Tags
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 List (high evidence)
PLXNB2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • amelogenesis imperfecta, MONDO:0019507
  • sensorineural hearing loss disorder, MONDO:0020678
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
POMGNT2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
PPP1R3F
3 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
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 List (high evidence)
PPP2R1A
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
PSMC3
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • ?Deafness, cataract, impaired intellectual development, and polyneuropathy, OMIM:619354
  • neurodevelopmental disorder, MONDO:0700092
Tags
Green List (high evidence)
PSMC5
4 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
PTS
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY
Tags
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 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 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 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 List (high evidence)
PUS3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051
Tags
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 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 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 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 List (high evidence)
QDPR
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • BH4-DEFICIENT HYPERPHENYLALANINEMIA C
Tags
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 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 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 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 List (high evidence)
RAB23
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Tags
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 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 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 List (high evidence)
RAB5C
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder MONDO:0700092, RAB5C-related
Tags
  • gene-checked
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 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 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 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 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 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 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 List (high evidence)
RAP1B
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654
  • Syndromic intellectual disability
Tags
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 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 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 List (high evidence)
RBBP5
3 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 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 List (high evidence)
RBL2
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Brunet-Wagner neurodevelopmental syndrome, OMIM:619690
Tags
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 List (high evidence)
RBSN
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Kariminejad-Reversade neurodevelopmental syndrome, OMIM:620937
  • Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, OMIM:620939
Tags
Green List (high evidence)
RELN
6 reviews
6 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type), OMIM:257320
  • neurodevelopmental disorder, MONDO:0700092
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
RNU4-2
5 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • ReNU syndrome, OMIM:620851
Tags
  • gene-checked
  • locus-type-rna-small-nuclear
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
  • locus-type-rna-small-nuclear
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 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 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 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 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 List (high evidence)
RPL10
6 reviews
3 green 2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 35, OMIM:300998
Tags
Green List (high evidence)
RPS6KA3
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
  • Coffin-Lowry syndrome, OMIM:303600
  • Intellectual developmental disorder, X-linked 19, OMIM:300844
Tags
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 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 List (high evidence)
RTEL1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
SDHAF1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX II DEFICIENCY
Tags
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 List (high evidence)
SEPHS1
2 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 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 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 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 List (high evidence)
SETBP1
5 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078
  • Schinzel-Giedion midface retraction syndrome, OMIM: 269150
  • Schinzel-Giedion syndrome, MONDO:0010010
Tags
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 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 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 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 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 List (high evidence)
SGPL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome 14 617575
Tags
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 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 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 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 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 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 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 List (high evidence)
SHQ1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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
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 List (high evidence)
SIK1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
Tags
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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
SLC1A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Dicarboxylic aminoaciduria 222730
Tags
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 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 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 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 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 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 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 List (high evidence)
SLC30A9
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Birk-Landau-Perez syndrome, OMIM:617595
Tags
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 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 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 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 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 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 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 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 List (high evidence)
SLC46A1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Folate malabsorption, hereditary, OMIM:229050
Tags
Green List (high evidence)
SLC4A10
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
Tags
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 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 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 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 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 List (high evidence)
SLC6A3
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PARKINSONISM-DYSTONIA, INFANTILE
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
SMPD4
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis
Tags
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 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 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 List (high evidence)
SNF8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
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 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 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 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 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 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 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 List (high evidence)
SOS2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Noonan syndrome 9
Tags
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 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 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 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 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 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 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 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 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 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 List (high evidence)
SPEN
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental disorders
Tags
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 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 List (high evidence)
SPR
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Tags
  • treatable
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 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 List (high evidence)
SPTAN1
4 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 delay with or without epilepsy, OMIM:620540
  • Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Tags
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 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 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, OMIM:617519
Tags
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 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 List (high evidence)
SRPK3
3 reviews
3 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, X-linked 114, OMIM:301134
Tags
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 List (high evidence)
SRSF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities, OMIM:620489
Tags
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 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 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 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 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 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 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 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 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 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 List (high evidence)
STX1A
1 review
1 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 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 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 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 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 List (high evidence)
SUMF1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • SULFATIDOSIS, JUVENILE, AUSTIN TYPE
Tags
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 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 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 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 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 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 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 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
  • Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
Tags
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 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 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 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 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 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
  • Intellectual developmental disorder, autosomal recessive 40, OMIM:615599
Tags
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 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 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 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 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 List (high evidence)
TAOK1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575
Tags
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 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 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 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 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 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 List (high evidence)
TBC1D2B
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323
  • neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148
Tags
  • gene-checked
Green List (high evidence)
TBC1D7
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Tags
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 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, type 1, OMIM:244460
  • autosomal recessive Kenny-Caffey syndrome, MONDO:0009486
  • Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM:241410
  • hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426
Tags
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 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 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 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 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 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 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 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 List (high evidence)
TCTN2
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • JOUBERT SYNDROME AND RELATED DISORDERS
Tags
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 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 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 List (high evidence)
TEFM
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 58, OMIM:620451
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
TMEM216
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • JOUBERT SYNDROME 2
Tags
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 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 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 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 List (high evidence)
TMEM63B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100062
Tags
  • gene-checked
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 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 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 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, OMIM:618316
Tags
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
TRAIP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Seckel syndrome 9, OMIM:616777
Tags
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
TRMT5
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539
Tags
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 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 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 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 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 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 List (high evidence)
TSEN34
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2C, OMIM:612390
  • pontocerebellar hypoplasia type 2C, MONDO:0012891
Tags
  • Q4_25_demote_amber
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 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 List (high evidence)
TSHB
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4
Tags
Green List (high evidence)
TSPAN7
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
  • ntellectual developmental disorder, X-linked 58, OMIM:300210
  • intellectual disability, X-linked 58, MONDO:0010266
Tags
  • Q3_25_demote_amber
  • Q3_25_expert_review
Green List (high evidence)
TSPOAP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Dystonia, intellectual disability and cerebellar atrophy
Tags
Green List (high evidence)
TTC19
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MITOCHONDRIAL COMPLEX III DEFICIENCY
Tags
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 List (high evidence)
TTC5
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, OMIM:619244
Tags
  • gene-checked
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 List (high evidence)
TTI1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with microcephaly and movement abnormalities, OMIM:620445
Tags
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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
U2AF2
5 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
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 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 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 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 List (high evidence)
UBE3B
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • BLEPHAROPHIMOSIS-MENTAL RETARDATION
Tags
Green List (high evidence)
UBE4A
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
Tags
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 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 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 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 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 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 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 List (high evidence)
UMPS
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • OROTIC ACIDURIA TYPE 1 (ORAC1)
Tags
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 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 List (high evidence)
UROC1
5 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Urocanase deficiency , OMIM:276880
  • urocanic aciduria, MONDO:0010167
Tags
  • Q4_25_demote_red
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 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 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 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 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 List (high evidence)
VCP
3 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
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 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 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 List (high evidence)
VPS41
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia
  • Intellectual disability
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
WDR5
1 review
1 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 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 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 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 List (high evidence)
WDR83OS
4 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016
Tags
  • gene-checked
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 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 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 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 List (high evidence)
XRCC4
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
Tags
Green List (high evidence)
XYLT1
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2, OMIM:615777
  • Desbuquois dysplasia 2, MONDO:0014343
Tags
  • STR
Green List (high evidence)
YIF1B
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kaya-Barakat-Masson syndrome, OMIM:619125
Tags
  • gene-checked
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 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 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 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 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 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 List (high evidence)
ZBTB47
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO
  • 0700092
Tags
  • gene-checked
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 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 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 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 List (high evidence)
ZFHX3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • syndromic intellectual disability
Tags
Green List (high evidence)
ZFHX4
7 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 List (high evidence)
ZFX
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
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118
Tags
Green List (high evidence)
ZFYVE26
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 15, autosomal recessive, OMIM:270700
Tags
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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)
ZNF699
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • DEGCAGS syndrome, OMIM:619488
Tags
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 List (high evidence)
ZNFX1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Immunodeficiency 91 and hyperinflammation, OMIM:619644
  • immunodeficiency 91 and hyperinflammation, MONDO:0030491
Tags
  • gene-checked
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 List (moderate evidence)
ABI2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
  • neurodevelopmental disorder, MONDO:0700092
Tags
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 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 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 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 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 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 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 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 List (moderate evidence)
ADCY5
8 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651
  • neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211
Tags
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 List (moderate evidence)
AGAP1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebral palsy
Tags
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 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 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 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 List (moderate evidence)
AIMP2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukodystrophy, hypomyelinating, 17,OMIM:618006
  • leukodystrophy, hypomyelinating, 17, MONDO:0054817
  • neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Tags
  • Q1_26_promote_green
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 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, OMIM:240300
  • autoimmune polyendocrine syndrome type 1, MONDO:0009411
Tags
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 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 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 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 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 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 List (moderate evidence)
ALPL
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Hypophosphatasia, adult, OMIM:146300
  • Hypophosphatasia, childhood, OMIM:241510
  • Hypophosphatasia, infantile, OMIM:241500
  • Odontohypophosphatasia, OMIM:146300
Tags
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 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 List (moderate evidence)
ANKS1B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
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 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 List (moderate evidence)
AP1B1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150
  • KID syndrome, MONDO:0018781
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
AP2S1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorder
Tags
  • watchlist
Amber List (moderate evidence)
ARHGAP35
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorder
Tags
  • gene-checked
  • watchlist
Amber List (moderate evidence)
ARHGEF40
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • developmental delay
Tags
  • watchlist
Amber List (moderate evidence)
ARL14EP
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
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 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
  • Q1_25_ promote_green
Amber List (moderate evidence)
ASTN1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
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 List (moderate evidence)
ATOH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Deafness, autosomal dominant 89 , OMIM:620284
  • hearing loss, autosomal dominant 89, MONDO:0859528
  • pontocerebellar hypoplasia, MONDO:0020135
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
ATP11A
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder
Tags
  • watchlist
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 List (moderate evidence)
ATXN10_ATTCT
STR
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 10, OMIM:603516
Tags
  • STR
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 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 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 List (moderate evidence)
BAIAP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100620
  • classic lissencephaly, MONDO:0015146
Tags
  • Q4_25_promote_green
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 List (moderate evidence)
BHLHE22
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
  • gene-checked
  • watchlist
Amber List (moderate evidence)
BORCS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arthrogryposis multiplex congenita, MONDO:0015168
  • neurodevelopmental disorder, MONDO:0700092
Tags
Amber List (moderate evidence)
BRSK1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
Amber List (moderate evidence)
BSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q4_25_promote_green
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 List (moderate evidence)
C12orf66
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Tags
  • new-gene-name
  • Q1_25_ promote_green
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 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 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 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 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 List (moderate evidence)
CAPZA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • intellectual disability
Tags
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 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 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 List (moderate evidence)
CCNK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Intellectual developmental disorder with hypertelorism and distinctive facies, OMIM:618147
  • intellectual developmental disorder with hypertelorism and distinctive facies, MONDO:0029143
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
CCT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034
  • neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
CCT6A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
  • gene-checked
  • Q3_25_promote_green
Amber List (moderate evidence)
CCT8
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CCT8-related neurodevelopmental disorder with brain abnormalities
Tags
Amber List (moderate evidence)
CD96
5 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • C syndrome, 211750
Tags
Amber List (moderate evidence)
CDC42BPB
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841
  • Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239
Tags
Amber List (moderate evidence)
CDK9
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Global developmental delay HP:0001263
  • syndromic intellectual disability MONDO:0000508
Tags
  • gene-checked
  • Q3_25_promote_green
  • watchlist
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 List (moderate evidence)
CELF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • dd_review
  • Q2_25_ promote_green
Amber List (moderate evidence)
CELSR3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
CEP295
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Seckel syndrome 11, OMIM:620767
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 List (moderate evidence)
CRMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • watchlist
Amber List (moderate evidence)
CRNKL1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
  • dd_review
  • Q3_25_promote_green
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 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 List (moderate evidence)
CTNND2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CTNND2-related neurodevelopmental disorder
Tags
Amber List (moderate evidence)
CYP27A1
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebrotendinous xanthomatosis 213700
Tags
  • watchlist
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 List (moderate evidence)
DALRD3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Developmental and epileptic encephalopathy 86, # 618910
Tags
Amber List (moderate evidence)
DAP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Perrault syndrome 7, OMIM:621101
Tags
Amber List (moderate evidence)
DCC
8 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Tags
  • structural-variant
  • watchlist
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 List (moderate evidence)
DDX39B
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
  • Q2_25_ NHS_review
  • Q2_25_ promote_green
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 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 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 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 List (moderate evidence)
DLG1
3 reviews
2 red 		Not set
Sources
  • Expert Review Amber
Tags
  • microdeletion
  • microduplication
  • watchlist
Amber List (moderate evidence)
DLG2
3 reviews
2 red 		Not set
Sources
  • Expert Review Amber
Tags
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 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 List (moderate evidence)
DPH2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diphthamide-deficiency syndrome
Tags
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 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 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 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 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 List (moderate evidence)
EEF1D
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language, OMIM:621150
Tags
  • Q2_25_ NHS_review
  • Q2_25_ promote_green
Amber List (moderate evidence)
EEFSEC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102
Tags
  • Q1_25_ promote_green
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 List (moderate evidence)
EIPR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
ELFN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
EMG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Bowen-Conradi syndrome, 211180
Tags
  • watchlist
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 List (moderate evidence)
EPB41L3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorder with seizures and myelination defects
Tags
  • Q2_25_ NHS_review
  • Q2_25_ promote_green
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 List (moderate evidence)
ERGIC3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
Tags
  • watchlist
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 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 List (moderate evidence)
EXOSC8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 1C, OMIM:616081
Tags
  • founder-effect
  • Q3_25_promote_green
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 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 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 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 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 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 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 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 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 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 List (moderate evidence)
FBXO22
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tayoun-Maawali syndrome, OMIM:621184
Tags
  • Q2_25_ NHS_review
  • Q2_25_ promote_green
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 List (moderate evidence)
FEM1C
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
Tags
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 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 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 List (moderate evidence)
FICD
2 reviews
 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 List (moderate evidence)
FLVCR1
7 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
  • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
Tags
  • Q3_25_promote_green
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 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 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 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 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 List (moderate evidence)
FRY
4 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
  • watchlist
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 List (moderate evidence)
FSD1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
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 List (moderate evidence)
GABBR1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502
Tags
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 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 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 List (moderate evidence)
GIGYF1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorder
Tags
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 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 List (moderate evidence)
GLI3
6 reviews
3 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Greig cephalopolysyndactyly syndrome, OMIM:175700
  • Pallister-Hall syndrome, OMIM:146510
Tags
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 List (moderate evidence)
GMNN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Meier-Gorlin syndrome 6, OMIM:616835
Tags
  • watchlist
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 List (moderate evidence)
GON4L
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Li-Takada-Miyake syndrome, OMIM:621212
  • Li-Takada-Miyake syndrome, MONDO:0978303
Tags
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 List (moderate evidence)
GPATCH11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • Q1_25_ promote_green
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 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 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 List (moderate evidence)
GTF2I
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
GTF3C3
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
Tags
  • Q1_25_ promote_green
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 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 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 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 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 List (moderate evidence)
HINT1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, OMIM:137200
  • Gamstorp-Wohlfart syndrome, MONDO:0007646
Tags
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 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 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 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 List (moderate evidence)
HNRNPC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 74, OMIM:620688
Tags
  • Q1_25_ promote_green
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 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 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 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 List (moderate evidence)
IFT27
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Bardet-Biedl syndrome 19, OMIM:615996
Tags
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 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 List (moderate evidence)
INPP4A
7 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • Q1_25_ promote_green
Amber List (moderate evidence)
IPO8
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • VISS syndrome, OMIM:619472
  • VISS syndrome, MONDO:0859177
Tags
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 List (moderate evidence)
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Developmental delay/intellectual disability, epilepsy, autism spectrum disorder, schizophrenia, congenital heart disease, and variable dysmorphic features
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
11q13.2q13.4 recurrent region (includes SHANK2, FGFs) Loss
ISCA-37498-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Developmental delay/intellectual disability, dysmorphic features, dental anomalies, long slender fingers with 5th finger clinodactyly, and additional clinical features
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
15q24 recurrent region (LCR A-LCR C) Loss
ISCA-46296-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Developmental delays, intellectual disability, brain anomalies, non-specific craniofacial abnormalities, hypotonia, ocular abnormalities, hearing loss, and other variable clinical features
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss
ISCA-46300-Loss
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • Developmental delays/intellectual disability, brain anomalies, craniofacial abnormalities, hypermobile joints, digital findings, and other variable clinical features
Tags
  • Q3_25_promote_green
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 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 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 List (moderate evidence)
ITGAV
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • syndromic disease, MONDO:0002254
Tags
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 List (moderate evidence)
JKAMP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
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 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 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 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 List (moderate evidence)
KCND3
8 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 19, OMIM: 607346
  • spinocerebellar ataxia type 19/22, MONDO:0011819
Tags
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 List (moderate evidence)
KDM2A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
KIAA0556
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome 26, OMIM:616784
  • Joubert syndrome 26, MONDO:0014771
Tags
  • new-gene-name
  • Q3_25_promote_green
Amber List (moderate evidence)
KIF26A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156
  • cortical dysplasia, complex, with other brain malformations 11 MONDO:0859332
Tags
Amber List (moderate evidence)
KIF5B
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • kyphomelic dysplasia, MONDO:0008881
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
  • watchlist
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 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 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 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 List (moderate evidence)
LDB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital hydrocephalus, MONDO:0016349
Tags
  • gene-checked
  • Q4_25_promote_green
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 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 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 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 List (moderate evidence)
LMNA
5 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
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
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 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 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 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 List (moderate evidence)
LRRC45
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • ciliopathy, MONDO:0005308
  • Abnormal brain morphology, HP:0012443
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
LRRC8C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • TIMES syndrome, OMIM:621056
Tags
Amber List (moderate evidence)
LSM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • FICUS syndrome, OMIM:621193
  • FICUS syndrome, MONDO:0978296
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
LSM7
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046
Tags
  • watchlist
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 List (moderate evidence)
MAG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, OMIM:616680
  • hereditary spastic paraplegia 75, MONDO:0014729
Tags
  • Q1_25_ promote_green
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 List (moderate evidence)
MAP4K4
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
  • Literature
Phenotypes
  • MAP4K4-related neurodevelopmental disorder with/without congenital anomalies
  • multiple congenital anomalies
  • neurodevelopmental differences
Tags
  • gene-checked
  • Q2_25_ promote_green
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 List (moderate evidence)
MED12L
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nizon-Isidor syndrome, OMIM:618872
  • Nizon-Isidor syndrome, MONDO:0030030
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
MED16
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Guillouet-Gordon syndrome, OMIM:621220
Tags
  • Q3_25_NHS_review
  • Q3_25_promote_green
Amber List (moderate evidence)
MIR17HG
6 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • 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 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 List (moderate evidence)
MMGT1
3 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorders
Tags
  • gene-checked
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 List (moderate evidence)
MRPL49
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 60, OMIM:621195
  • combined oxidative phosphorylation deficiency, MONDO:0000732
Tags
  • Q2_25_ promote_green
Amber List (moderate evidence)
NAA20
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 73, OMIM:619717
Tags
  • Q1_25_ promote_green
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 List (moderate evidence)
NAV3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • recessive neurodevelopmental disorder
Tags
  • Q1_25_ promote_green
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 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 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 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 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 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 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 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 List (moderate evidence)
NFIB
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
Tags
  • Autism Spectrum Disorder
  • watchlist
Amber List (moderate evidence)
NHLRC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • FINCA syndrome, OMIM:618278
Tags
  • gene-checked
  • Q1_25_ promote_green
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 List (moderate evidence)
NOTCH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • dd_review
  • Q3_25_promote_green
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 List (moderate evidence)
NRDC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
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 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 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 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 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 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 List (moderate evidence)
OPA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Optic atrophy plus syndrome, OMIM: 125250
Tags
  • Q1_25_ promote_green
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 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 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 List (moderate evidence)
PCBP2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Amber List (moderate evidence)
PDCD6IP
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • microcephaly
  • Intellectual disability
Tags
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 List (moderate evidence)
PDE1B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • movement disorder, MONDO:0005395
  • intellectual disability, MONDO:0001071
Tags
Amber List (moderate evidence)
PDE6D
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Joubert syndrome 22 - MIM 615665
Tags
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 List (moderate evidence)
PHF12
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Amber
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
  • Q1_26_NHS_review
  • Q1_26_promote_green
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 List (moderate evidence)
PHF5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • PHF5A-related neurodevelopmental disorder with congenital malformations
Tags
  • Q1_26_promote_green
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 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 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 List (moderate evidence)
PLA2G16
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Associated with Lipodystrophy, familial partial, type 9, OMIM:620683
  • lipodystrophy, familial partial, type 9, MONDO:0958034
Tags
  • new-gene-name
Amber List (moderate evidence)
PLAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
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 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 List (moderate evidence)
PNPLA8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
  • mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
Tags
  • Q1_25_ promote_green
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 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 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 List (moderate evidence)
PPFIA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Paul-Chao neurodevelopmental syndrome, OMIM:621122
Tags
  • Q1_26_promote_green
  • watchlist_moi
Amber List (moderate evidence)
PPOX
5 reviews
2 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Variegate porphyria, childhood-onset, OMIM:620483
  • variegate porphyria, MONDO:0008297
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
PPP2R2B
4 reviews
2 green 1 red 		Other
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • neurodevelopmental syndrome
Tags
  • Q1_25_ promote_green
Amber List (moderate evidence)
PPP2R5C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Houge-Janssens syndrome 4, OMIM:621185
Tags
  • Q1_25_ promote_green
Amber List (moderate evidence)
PRKACB
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardioacrofacial dysplasia 2, OMIM:619143
Tags
  • watchlist
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 List (moderate evidence)
PRMT9
5 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
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 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 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 List (moderate evidence)
PTBP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
  • Q3_25_promote_green
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 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 List (moderate evidence)
PTPA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
Tags
Amber List (moderate evidence)
PTPMT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • watchlist
Amber List (moderate evidence)
PTRH2
3 reviews
2 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, OMIM:616263
  • neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012
Tags
  • Q1_25_ promote_green
  • watchlist
Amber List (moderate evidence)
RAB14
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental disorders
Tags
Amber List (moderate evidence)
RAB3A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Research
Phenotypes
  • RAB3A associated cerebellar ataxia
  • pyramidal features
  • neurodevelopmental delay
Tags
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 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 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 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 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 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 List (moderate evidence)
RMRP
3 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
  • locus-type-rna-long-non-coding
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 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
  • gene-checked
  • watchlist
Amber List (moderate evidence)
RNU2-2P
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • dd_review
  • locus-type-rna-small-nuclear
  • new-gene-name
  • Q2_25_ promote_green
Amber List (moderate evidence)
RNU4ATAC
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Lowry-Wood syndrome, OMIM:226960
  • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
  • Roifman syndrome, OMIM:616651
Tags
  • locus-type-rna-small-nuclear
Amber List (moderate evidence)
RNU5B-1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
  • RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179
Tags
  • dd_review
  • gene-checked
  • locus-type-rna-small-nuclear
  • Q3_25_promote_green
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 List (moderate evidence)
RPS6KC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
RREB1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • RASopathy, MONDO:0021060
Tags
  • Q3_25_NHS_review
  • Q3_25_promote_green
Amber List (moderate evidence)
RSF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
RSPRY1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Tags
  • Q1_25_ promote_green
Amber List (moderate evidence)
RUNX1T1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
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 List (moderate evidence)
RYR2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Tags
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 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 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 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 List (moderate evidence)
SEL1L
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia, OMIM:621068
  • ?Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, OMIM:621067
Tags
  • Q2_25_ NHS_review
  • Q2_25_ promote_green
Amber List (moderate evidence)
SF1
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
  • Q3_25_NHS_review
  • Q3_25_promote_green
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 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 List (moderate evidence)
SLC12A9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
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 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 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 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 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 List (moderate evidence)
SLC35A3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Tags
  • watchlist
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 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 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 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 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 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 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 List (moderate evidence)
SLC5A7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143
Tags
  • Q1_25_ promote_green
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 List (moderate evidence)
SLITRK2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, X-linked 111, OMIM:301107
  • intellectual developmental disorder, X-linked 111, MONDO:0957203
Tags
  • Q1_26_NHS_review
  • Q1_26_promote_green
Amber List (moderate evidence)
SMAD3
4 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 List (moderate evidence)
SMARCA1
4 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 Amber
  • Other
Phenotypes
  • X-linked intellectual disability, MONDO:0100284
Tags
  • Q2_25_ promote_green
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 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 List (moderate evidence)
SOD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
SOX3
8 reviews
3 green 		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
  • Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency, OMIM:300123
  • X-linked intellectual disability with isolated growth hormone deficiency, MONDO:0019032
Tags
Amber List (moderate evidence)
SOX9
6 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Campomelic dysplasia with autosomal sex reversal, OMIM:114290
  • Acampomelic campomelic dysplasia, OMIM:114290
  • Campomelic dysplasia, OMIM:114290
  • campomelic dysplasia, MONDO:0007251
Tags
Amber List (moderate evidence)
SPAST
5 reviews
2 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, OMIM:182601
  • hereditary spastic paraplegia 4, MONDO:0008438
Tags
  • Q1_25_ promote_green
Amber List (moderate evidence)
SPOUT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Tags
  • Q1_25_ promote_green
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 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 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 List (moderate evidence)
SUPV3L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
Tags
  • Q1_25_ promote_green
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 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 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 List (moderate evidence)
TAOK2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neuronevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • Q1_25_ NHS_review
  • Q1_25_ promote_green
Amber List (moderate evidence)
TARS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 21, OMIM: 615918
  • combined oxidative phosphorylation defect type 21,NDO:0014398
Tags
  • Q1_25_ promote_green
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 List (moderate evidence)
TCP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
  • intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
TDP1
10 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • South West GLH
  • UKGTN
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250
Tags
  • founder-effect
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 List (moderate evidence)
TFG
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Spastic paraplegia 57, autosomal recessive, OMIM:615658
Tags
  • Q1_25_ promote_green
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 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 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 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 List (moderate evidence)
TM2D3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurocardiorenal malformation syndrome, OMIM:621379
Tags
  • Q1_26_promote_green
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 List (moderate evidence)
TMLHE
4 reviews
3 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability)
Tags
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 List (moderate evidence)
TNR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653
Tags
  • Q3_25_promote_green
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 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 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 List (moderate evidence)
TRAPPC11
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • myopathy and intellectual disability
Tags
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 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 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 List (moderate evidence)
TUBGCP2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Tags
  • gene-checked
  • Q1_25_ promote_green
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 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 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 List (moderate evidence)
UBR5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
  • dd_review
  • Q3_25_promote_green
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 List (moderate evidence)
UGGT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital disorder of glycosylation, MONDO:0015286
Tags
  • Q3_25_NHS_review
  • Q3_25_promote_green
Amber List (moderate evidence)
UNC13A
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100620
Tags
  • Q1_26_MOI
  • Q3_25_NHS_review
  • Q3_25_promote_green
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 List (moderate evidence)
UPF1
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_25_NHS_review
  • Q3_25_promote_green
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 List (moderate evidence)
VIPAS39
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Amber
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404
Tags
Amber List (moderate evidence)
VPS33A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mucopolysaccharidosis-plus syndrome, OMIM:617303
  • mucopolysaccharidosis-plus syndrome, MONDO:0015012
Tags
  • Q1_25_ promote_green
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 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 List (moderate evidence)
VPS51
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 13, MIM# 618606
Tags
Amber List (moderate evidence)
WARS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, OMIM:620317
  • neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities, MONDO:0957218
Tags
  • Q3_25_promote_green
Amber List (moderate evidence)
WASHC4
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 43, OMIM:615817
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
WASHC5
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Ritscher-Schinzel syndrome, OMIM:220210, Ritscher-Schinzel syndrome, MONDO:0019078
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
WBP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852
  • neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MONDO:0971043
Tags
  • Q4_24_NHS_review
  • Q4_24_promote_green
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 List (moderate evidence)
WDR47
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
  • gene-checked
  • Q1_25_ promote_green
Amber List (moderate evidence)
WSB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
XPA
5 reviews
2 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Xeroderma pigmentosum, group A, OMIM: 278700
Tags
  • Q1_25_ promote_green
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 List (moderate evidence)
ZBTB11
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 69, OMIM:618383
Tags
  • gene-checked
  • watchlist
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 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 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 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 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 List (moderate evidence)
ZNF865
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q4_25_promote_green
Amber List (moderate evidence)
ZNRF3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
  • gene-checked
Red List (low evidence)
A2ML1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Tags
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 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 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 List (low evidence)
ABCC8
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
ABCG5
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
ACE2
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACIN1
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
Tags
Red List (low evidence)
ACOT9
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
Tags
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 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 List (low evidence)
ADGRG4
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
ADRA2B
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Red List (low evidence)
AFF2_GCC
STR
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Intellectual developmental disorder, X-linked 109, OMIM:309548
  • FRAXE intellectual disability, MONDO:0010659
Tags
  • NGS Not Validated
  • STR
Red List (low evidence)
AFF3_GGC
STR
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • neurodevelopmental disorder unspecified
Tags
  • NGS Not Validated
  • STR
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 List (low evidence)
AFP
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
AGT
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
AKAP17A
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
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 List (low evidence)
AKAP6
1 review
1 red 		Unknown
Sources
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual Disability
Tags
  • de novo
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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
AQP7
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
ARHGAP36
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
ARHGAP6
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 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 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 List (low evidence)
ARIH1
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
ARSF
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
ASB12
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
ASCL1
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Red List (low evidence)
ASMT
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
ASMTL
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
ASPH
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
ATAD2B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
Tags
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 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 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 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 List (low evidence)
ATP2C2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • language impairment, HP:0002463
Tags
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 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 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 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 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 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 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 List (low evidence)
ATXN3L
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 List (low evidence)
AVP
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
AWAT2
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
BDP1
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
C1QA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • C1q deficiency 1, OMIM:613652
Tags
Red List (low evidence)
C1QC
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • C1q deficiency 3, OMIM:620322
Tags
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 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 List (low evidence)
C3orf58
1 review
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
  • new-gene-name
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 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 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 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 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 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 List (low evidence)
CACNA2D3
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
CANT1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
CAP1
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 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
  • new-gene-name
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 List (low evidence)
CCDC115
4 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
  • new-gene-name
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 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 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 List (low evidence)
CCDC65
5 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
  • new-gene-name
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 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 List (low evidence)
CCNA2
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive mental retardation
Tags
Red List (low evidence)
CCNB3
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 List (low evidence)
CCT5
6 reviews
1 green 2 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 List (low evidence)
CCT7
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • CCT7-related neurodevelopmental disorder with brain abnormalities
Tags
Red List (low evidence)
CD99
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
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 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 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 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 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 List (low evidence)
CDK5R1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
CDT1
5 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 4, OMIM:613804
Tags
Red List (low evidence)
CFAP47
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
CLCN5
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
  • Dent disease
Tags
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 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 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 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 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 List (low evidence)
CLPP
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
CNKSR1
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION (G2P)
Tags
Red List (low evidence)
CNTN3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
CNTN4
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
COA3
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 List (low evidence)
COL1A2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
COL25A1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 List (low evidence)
COLEC10
2 reviews
1 red 		Not set
Sources
  • Victorian Clinical Genetics Services
Phenotypes
  • 3MC syndrome 3, 248340
Tags
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 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 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 List (low evidence)
COX14
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Mitochondrial complex IV deficiency 220110
Tags
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 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 List (low evidence)
CPA6
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
  • Epilepsy, familial temporal lobe, 5
Tags
  • refuted
Red List (low evidence)
CPD
2 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
CPXCR1
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 List (low evidence)
CRLF2
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
CTGF
1 review
 Unknown
Sources
  • Other
Tags
  • watchlist
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 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 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 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 List (low evidence)
CTTNBP2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
CXorf58
3 reviews
3 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Tags
Red List (low evidence)
CYFIP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • intellectual disability, MONDO:0001071
Tags
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 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 List (low evidence)
DAB1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (low evidence)
DDHD1
5 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • HEREDITARY SPASTIC PARAPLEGIA
Tags
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 List (low evidence)
DDX58
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
Tags
  • new-gene-name
Red List (low evidence)
DECR1
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • 2,4-DIENOYL-COA REDUCTASE DEFICIENCY
Tags
Red List (low evidence)
DGKH
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
DIP2B
6 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, FRA12A type, 136630
  • MENTAL RETARDATION, FRA12A TYPE
Tags
  • nucleotide-repeat-expansion
Red List (low evidence)
DLGAP2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (low evidence)
DNA2
4 reviews
4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Seckel syndrome 8, OMIM:615807
Tags
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 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 List (low evidence)
DNAH14
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Tags
Red List (low evidence)
DNAJC3
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
DPF1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
DPF3
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
DPP6
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Other
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 33, OMIM:616311
Tags
  • deletions
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 List (low evidence)
DSCAM
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
EIF2A
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Intellectual disability
  • epilepsy
Tags
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 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 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 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 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 List (low evidence)
EN2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (low evidence)
EPM2A
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Red
Phenotypes
  • Myoclonic epilepsy of Lafora 1, OMIM:254780
Tags
Red List (low evidence)
EPPK1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
ERCC4
5 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Red
Phenotypes
  • Xeroderma pigmentosum, group F 278760
  • XFE progeroid syndrome, OMIM: 610965
Tags
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 List (low evidence)
ERMARD
7 reviews
4 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Tags
  • watchlist
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 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 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 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 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 List (low evidence)
F5
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
FAH
6 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • TYROSINEMIA TYPE 1
Tags
Red List (low evidence)
FAM111A
6 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • KENNY-CAFFEY SYNDROME (KCS [MIM 127000])
Tags
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 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 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 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 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 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 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 List (low evidence)
FASN
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Red List (low evidence)
FBLN5
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
FBXO25
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Expression in brain
Tags
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 List (low evidence)
FBXO8
1 review
1 red 		Not set
Sources
  • Expert Review Red
Phenotypes
  • moderate developmental delay
Tags
Red List (low evidence)
FBXW4
3 reviews
1 red 		Not set
Sources
  • Expert Review Red
Phenotypes
  • SPLIT-HAND/FOOT MALFORMATION TYPE 3
Tags
Red List (low evidence)
FDXR
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 List (low evidence)
FKBPL
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
FUT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy
Tags
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 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 List (low evidence)
FZD3
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
G6PC3
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
GABRG3
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
GALNS
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MUCOPOLYSACCHARIDOSIS TYPE 4A (MPS4A)
Tags
Red List (low evidence)
GAP43
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
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
  • new-gene-name
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 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 List (low evidence)
GBE1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
GCK
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (low evidence)
GIGYF2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
GRB14
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
GRIP1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
GTPBP8
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
GYS2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
HARS2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 List (low evidence)
HMGXB4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Intellectual disability, developmental delay, and dysmorphic features
Tags
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 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 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 List (low evidence)
HOXD10
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
IARS2
4 reviews
4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, OMIM:616007
Tags
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 List (low evidence)
IFNAR2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 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 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 List (low evidence)
IL3RA
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
ILF2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
INSR
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
INTS6
2 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
IQSEC3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Intellectual disability
Tags
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 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 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 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 List (low evidence)
ITGA4
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 List (low evidence)
ITIH6
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 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 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 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 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 List (low evidence)
KATNAL2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
KCNJ2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Short QT syndrome 3, OMIM:609622
Tags
Red List (low evidence)
KCNK12
3 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
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 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 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 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 List (low evidence)
KIF21A
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 List (low evidence)
KLHL21
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 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 List (low evidence)
LGI1
5 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epilepsy, familial temporal lobe, 1, OMIM:600512
  • developmental and epileptic encephalopathy, MONDO:0100620
Tags
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 List (low evidence)
LHFPL3
3 reviews
2 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
LIMK1
3 reviews
2 red 		Not set
Sources
  • Expert Review Red
Phenotypes
  • Williams-Beuren syndrome
Tags
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 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 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 List (low evidence)
LRAT
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • LEBER CONGENITAL AMAUROSIS
Tags
Red List (low evidence)
LRP1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
LRRK1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 List (low evidence)
MACC1
1 review
 Unknown
Sources
  • Other
Tags
  • watchlist
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
MARS2
4 reviews
1 green 1 red 		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 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 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 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 List (low evidence)
MCEE
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Methylmalonyl-CoA epimerase deficiency
Tags
Red List (low evidence)
MCM9
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (low evidence)
MET
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
MGAT5B
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
MIB1
4 reviews
4 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
MLH1
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mismatch repair cancer syndrome
Tags
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 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 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 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 List (low evidence)
MPDZ
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 2
Tags
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 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 List (low evidence)
MRAP
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 List (low evidence)
MT-TP
5 reviews
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Red
Tags
  • locus-type-rna-transfer
Red List (low evidence)
MTF1
4 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
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 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 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 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 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 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 List (low evidence)
MTTP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Abetalipoproteinemia, 200100
Tags
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 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 List (low evidence)
MYH3
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 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 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 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 List (low evidence)
MYO1D
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
MYO1G
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 List (low evidence)
NAA60
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786
  • basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977
Tags
Red List (low evidence)
NADK2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Tags
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 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 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 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 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 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 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 List (low evidence)
NDUFAF3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency
Tags
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 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 List (low evidence)
NEB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Gene2Phenotype
Phenotypes
  • Nemaline myopathy 2, autosomal recessive, 256030
Tags
Red List (low evidence)
NECAB2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 List (low evidence)
NGF
1 review
1 red 		Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
NPR3
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 List (low evidence)
NTM
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
NTNG1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
ODF2L
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
OR5M1
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Intellectual disability
Tags
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, OMIM:224690
Tags
Red List (low evidence)
ORC4
6 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 2, OMIM:613800
Tags
Red List (low evidence)
ORC6
7 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Meier-Gorlin syndrome 3, OMIM:613803
Tags
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 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 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 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 List (low evidence)
P2RY8
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
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 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 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 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 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 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 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 List (low evidence)
PARP1
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
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 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 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 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 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 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 List (low evidence)
PBRM1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
PCDH10
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
PCLO
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 3
Tags
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 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 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 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 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 List (low evidence)
PECR
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
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 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 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 List (low evidence)
PHF10
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
PHKA2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
PHKG2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (low evidence)
PIK3C3
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 disease 4 with or without hepatic disease, OMIM:263200
Tags
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 List (low evidence)
PLCXD1
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
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 List (low evidence)
PLEKHG1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Spastic diplegia and psychomotor developmental delay
Tags
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 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 List (low evidence)
PLOD3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lysyl hydroxylase 3 deficiency, 612394
Tags
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 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 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 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 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 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 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 List (low evidence)
POGLUT1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (low evidence)
PPP1R1B
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 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 List (low evidence)
PROX2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 List (low evidence)
PSMA7
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
PTPN21
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
QKI
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
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 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 List (low evidence)
RABL6
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
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 List (low evidence)
RAD51C
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP 0
Tags
Red List (low evidence)
RALGDS
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Red List (low evidence)
RANBP17
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
RAPGEF1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
RBFOX1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 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 List (low evidence)
RGS7
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Red List (low evidence)
RIMS1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
RING1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • microcephaly
  • intellectual disability
Tags
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 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 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 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 List (low evidence)
RNU5A-1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
  • locus-type-rna-small-nuclear
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
RYR3
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
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 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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
SELENOI
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
SETDB2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
SGCA
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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, OMIM:610896
Tags
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 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 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 List (low evidence)
SLC25A13
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
SLC25A19
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Microcephaly, Amish type, 607196
Tags
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 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 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 List (low evidence)
SLC25A6
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 1
Red List (low evidence)
SLC26A9
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
SLC31A1
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
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 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 List (low evidence)
SLC5A2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
SLC6A4
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
SLC7A7
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
SMARCC1
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
SMARCD3
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 List (low evidence)
SNTG1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 List (low evidence)
SPRTN
0 reviews
 Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
SPRY3
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 2
Red List (low evidence)
SPTLC1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 List (low evidence)
SREBF2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
STAB2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 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 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 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 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 List (low evidence)
STX11
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
STX3
1 review
 Unknown
Sources
  • Other
Tags
  • watchlist
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 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 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 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 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 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 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 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 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
  • gene-checked
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 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 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 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 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 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 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 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 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 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 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 List (low evidence)
TCP10L2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 List (low evidence)
TENM1
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
TEPSIN
4 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 List (low evidence)
TFB2M
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Intellectual disability
Tags
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 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 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 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 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 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 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 List (low evidence)
THAP11_CAG
STR
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Spinocerebellar ataxia 51, OMIM:620947
Tags
  • NGS Not Validated
  • STR
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 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 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), OMIM:609560
Tags
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 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 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 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 List (low evidence)
TMEM132E
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
Red List (low evidence)
TMEM135
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
Red List (low evidence)
TMEM260
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
TNKS2
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
TPH2
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
TPK1
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
TPR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Intellectual disability, MONDO:0001071
Tags
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 List (low evidence)
TRAPPC6A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability
  • dysmorphic features
Tags
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 List (low evidence)
TRHR
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 List (low evidence)
TRMT1L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Early-onset neurodegenerative symptoms
Tags
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 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 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 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 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 List (low evidence)
TSPAN8
1 review
 Unknown
Sources
  • Other
Tags
  • watchlist
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 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 List (low evidence)
TTN
1 review
1 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
TTR
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 List (low evidence)
UBR4
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
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 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 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 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 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 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 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 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 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 List (low evidence)
VAMP7
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Tags
  • Pseudoautosomal region 2
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 List (low evidence)
VIP
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Asperger syndrome
Tags
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 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 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 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 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 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 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 List (low evidence)
WFS1
3 reviews
1 red 		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 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 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 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 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 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 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 List (low evidence)
WRN
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
WT1
4 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 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 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 List (low evidence)
XIST
0 reviews
 Not set
Sources
  • Victorian Clinical Genetics Services
Tags
  • locus-type-rna-long-non-coding
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 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 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 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 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 List (low evidence)
YBX3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Neurological disorder
Tags
Red List (low evidence)
YWHAE
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • cnv
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 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 List (low evidence)
ZBTB40
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
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 List (low evidence)
ZCCHC8
3 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • AUTOSOMAL RECESSIVE MENTAL RETARDATION
Tags
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 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 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 List (low evidence)
ZMYM6
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
Red List (low evidence)
ZMYND12
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 List (low evidence)
ZNF425
3 reviews
3 red 		Not set
Sources
  • Expert Review Red
Tags
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 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 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 List (low evidence)
ZNF713
3 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • AUTISM
Tags
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
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
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
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
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
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
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
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
PPP2R2B_CAG
STR
4 reviews
1 red 		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
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

  • 2025-04-30 16:39 Sarah Leigh (Genomics England Curator) promoted panel to 9.0
    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 (9.0) following this.

    2024-10-30 12:28 Sarah Leigh (Genomics England Curator) promoted panel to 8.0
    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 (8.0) following this.

    2024-08-07 16:18 Arina Puzriakova (Genomics England Curator) promoted panel to 7.0
    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 (7.0) following this.

    2024-05-01 12:24 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 6.0
    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 (6.0) following this.

    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.

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