1. Panels
  2. Early onset or syndromic epilepsy
The latest signed off version for the GMS is v8.0. The current version, shown here, may differ from the signed-off version.

Early onset or syndromic epilepsy (Version 8.153)

Level 2: Neurology

Relevant disorders: Epilepsy Plus, Epilepsy plus other features, Genetic Epilepsy Syndromes, Epileptic encephalopathy, Familial Focal Epilepsies, Familial Genetic Generalised Epilepsies, Genetic Epilepsies with Febrile Seizures Plus (GEFS+), Genetic Epilepsies with Febrile Seizures Plus, Early onset or syndromic epilepsy, Genetic epilepsy syndromes, R59
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, Component Of Super Panel, GMS signed-off
Latest signed off version: v8.0 (30 Apr 2025)
Previously signed off versions: v7.0, v6.0, v5.0, v4.0, v3.0, v2.2
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 'R59 Early onset or syndromic epilepsy' 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 'R59 Early onset or syndromic epilepsy'.

R98 Likely inborn error of metabolism – targeted testing not possible’ should be used where a primary metabolic disturbance is considered most likely to be the cause of seizures. In patients where it is unclear and a metabolic cause could be relevant, you can opt to proceed under ‘R59 Early onset or syndromic epilepsy’ but select the ‘Inborn errors of metabolism’ panel in addition during the test request process.

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 was formed from the merge of the following panels: Epileptic encephalopathy (code 67) Version 1.132 , Familial Focal Epilepsies (code 252) Version 1.9, Familial Genetic Generalised Epilepsies (code 240) Version 1.23 and Genetic Epilepsies with Febrile Seizures Plus (GEFS+) (code 160) Version 1.9. Reviews from these individual panels have been transferred over; some genes are now considered 'Green' for this panel because it is more inclusive or new evidence has arisen, whereas they were previously rated 'Red' on one or more of the original panels which had more specific disease eligibility criteria.

Additional sources:
Victorian Clinical Genetics Services: Represents diagnostic genes for "Epileptic encephalopathy" (June 2018) from Victorian Clinical Genetics Services, Australia, provided by Zornitza Stark. Inclusion criteria were that the genes have been reported as causative in at least two cases from unrelated families.
NIHRBR-RD Consortium SPEED_v3.0_20170404: Represents the subset BRIDGE consortium Tier 1 genes associated with epilepsy from NIHR BioResource - Rare Diseases Study (NIHRBR-RD) provided by Karyn Megy, WGS Clinical Feedback Lead.  It incorporates pertinent genes from the SPEED project (Specialist Pathology: Evaluating Exomes in Diagnostics project), only those genes assigned to epilepsy disorders were included.

This panel is also a constituent panel of super panels 'Paediatric disorders' and 'Unexplained death in infancy and sudden unexplained death in childhood'. Changes made to this panel will automatically be updated in the relevant super panel(s).
Panel Activity

66 reviewers

  • Ellen McDonagh (Genomics England Curator)

    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

  • Donavan Cheng (Illumina)

    Group: Other biotech or pharmaceutical
    Workplace: Industry

  • 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

  • Andrea Haworth (ACGS, Congenica)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • 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

  • Natalie Trump (NHS - Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Manju Kurian (UCL-Institute of Child Health)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Amy McTague (UCL Institute of Child Health)

    Group: Other NHS organisation
    Workplace: Research lab

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Shamima Rahman (UCL Institute of Child Health)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Pedro Louro (Guy's Hospital)

    Group: Other NHS organisation
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Cristina Dias (The Francis Crick Institute)

    Group: NHS Genomic Medicine Centre
    Workplace: Other

  • alisdair mcneill (Sheffield childrens hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Konstantinos Varvagiannis (Other)

    Group: Other
    Workplace: Other clinical service

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Deb Pal (King's College London)

    Group: Other
    Workplace: Research lab

  • 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

  • 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

  • Simon Thomas (Wessex Regional Genetics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Alison Callaway (Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Helen Lord (Oxford Medical Genetics Laboratories)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research 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

  • 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

  • Natalie Trump (Congenica)

    Group: Other
    Workplace: Industry

  • Alexander Symon-Allen (Genetics Laboratory, Oxford UK)

    Group: Other NHS organisation
    Workplace: NHS 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

  • 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

  • Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

    Group: Other NHS organisation
    Workplace: Other diagnostic lab

  • Nicholas Head (Exeter Genomics Laboratory)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Hannah Knight (NIHR BioResource - University of Cambridge)

    Group: Other
    Workplace: Research lab

  • Annalisa Vetro (Genetica Medica AO Ospedali Riuniti Villa Sofia - Cervello)

    Group: Other
    Workplace: NHS diagnostic lab

  • Cassandra Smith (Genomics England)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

920 Entities

920 reviewed, 651 green

List Entity Reviews Mode of inheritance Details
920 Entitiess
Green List (high evidence)
AARS
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 29, OMIM:616339
  • Developmental and epileptic encephalopathy, 29, MONDO:0014593
Tags
  • new-gene-name
Green List (high evidence)
AASS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Hyperlysinemia, OMIM:238700
  • Hyperlysinemia (disease), MONDO:0009388
Tags
Green List (high evidence)
ABAT
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • GABA-transaminase deficiency 613163
Tags
Green List (high evidence)
ACOX1
5 reviews
2 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
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470
  • Mitchell syndrome, OMIM:618960
Tags
Green List (high evidence)
ACTL6B
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 76, OMIM:618468
Tags
Green List (high evidence)
ADAR
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Aicardi-Goutieres syndrome 6, OMIM:615010
Tags
Green List (high evidence)
ADARB1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862
Tags
Green List (high evidence)
ADGRG1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, 606854
Tags
Green List (high evidence)
ADPRHL2
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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
Green List (high evidence)
ADSL
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Adenylosuccinase deficiency
Tags
Green List (high evidence)
AFF3
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • KINSSHIP syndrome, OMIM:619297
Tags
  • missense
Green List (high evidence)
AGO1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
Tags
Green List (high evidence)
AIMP1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 3, OMIM:260600
Tags
Green List (high evidence)
AKT3
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
Green List (high evidence)
ALDH5A1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency OMIM:271980
  • succinic semialdehyde dehydrogenase deficiency MONDO:0010083
Tags
Green List (high evidence)
ALDH7A1
9 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, pyridoxine-dependent 266100
Tags
  • treatable
Green List (high evidence)
ALG1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ik 608540
Tags
Green List (high evidence)
ALG11
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ip
Tags
Green List (high evidence)
ALG13
7 reviews
5 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
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Is
  • Infantile spasms and LGS
Tags
Green List (high evidence)
ALG14
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital myasthenic syndrome
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Tags
Green List (high evidence)
ALG3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
Tags
Green List (high evidence)
ALG6
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
Tags
Green List (high evidence)
ALG8
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ih 608104
Tags
Green List (high evidence)
ALG9
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation type Il 608776
Tags
Green List (high evidence)
ALKBH8
7 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 71, OMIM:618504
Tags
Green List (high evidence)
ALPL
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hypophosphatasia, childhood, OMIM:241510
  • Hypophosphatasia, infantile, OMIM:241500
Tags
Green List (high evidence)
AMPD2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pontocerebellar hypoplasia, type 9 615809
Tags
Green List (high evidence)
AMT
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Glycine encephalopathy 605899
Tags
Green List (high evidence)
ANK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
Green List (high evidence)
ANKRD11
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • KBG syndrome, 148050
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
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder (NDD)
  • Intellectual Disability
  • Epilepsy
Tags
Green List (high evidence)
AP2M1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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)
AP3B2
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 48 617276
Tags
Green List (high evidence)
APC2
4 reviews
2 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)
ARF1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
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
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Periventricular heterotopia with microcephaly 608097
Tags
Green List (high evidence)
ARG1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Argininemia, OMIM:207800
Tags
Green List (high evidence)
ARHGEF9
8 reviews
6 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 8, OMIM:300607
Tags
Green List (high evidence)
ARID1B
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Coffin-Siris syndrome 1, 135900
Tags
Green List (high evidence)
ARV1
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 38 617020
Tags
Green List (high evidence)
ARX
7 reviews
5 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 1 308350
  • Hydranencephaly with abnormal genitalia 300215
  • Lissencephaly, X-linked 2 300215
  • Mental retardation, X-linked 29 and others 300419
  • Partington syndrome 309510
  • Proud syndrome 300004
Tags
Green List (high evidence)
ASAH1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Wessex and West Midlands GLH
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
  • SMA with myoclonic epilepsy
Tags
Green List (high evidence)
ASH1L
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 52, OMIM:617796
Tags
Green List (high evidence)
ASL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Argininosuccinic aciduria, OMIM:207900
  • argininosuccinic aciduria, MONDO:0008815
  • seizure, HP:0001250
Tags
Green List (high evidence)
ASNS
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Asparagine synthetase deficiency OMIM:615574
Tags
Green List (high evidence)
ASPA
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Canavan disease 271900
Tags
Green List (high evidence)
ASXL3
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Bainbridge-Ropers syndrome, OMIM:615115
Tags
Green List (high evidence)
ATN1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Tags
Green List (high evidence)
ATN1_CAG
STR
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tags
  • STR
Green List (high evidence)
ATP1A1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hypomagnesemia
  • Seizures
  • Intellectual disability
Tags
Green List (high evidence)
ATP1A2
9 reviews
2 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Alternating hemiplegia of childhood 1, 104290
  • Migraine, familial basilar, 602481
  • Migraine, familial hemiplegic, 2, 602481
  • benign familial infantile convulsions
  • epilepsy and migraine
  • occipitotemporal epilepsy
  • infantile epileptic syndrome
Tags
Green List (high evidence)
ATP1A3
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Alternating hemiplegia of childhood 2
  • Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly
  • Dystonia-12
  • CAPOS Syndrome (recurrent mutation)
Tags
Green List (high evidence)
ATP5O
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Tags
  • new-gene-name
Green List (high evidence)
ATP6V0A1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • ATP6V0A1-related developmental disorder (monoallelic)
Tags
  • watchlist_moi
Green List (high evidence)
ATP6V0A2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 3 618012
  • Cutis laxa, autosomal recessive, type IID 617403
Tags
Green List (high evidence)
ATP7A
4 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Menkes disease 309400
Tags
Green List (high evidence)
ATRX
8 reviews
6 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome, 301040
  • Mental retardation-hypotonic facies syndrome, X-linked, 309580
Tags
Green List (high evidence)
BAP1
2 reviews
2 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)
BCKDHA
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Maple syrup urine disease, type Ia 248600
Tags
Green List (high evidence)
BCKDHB
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Maple syrup urine disease, type Ib 248600
Tags
Green List (high evidence)
BCS1L
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1 124000
  • Leigh syndrome 256000
  • GRACILE syndrome 603358
Tags
Green List (high evidence)
BOLA3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
Tags
Green List (high evidence)
BRAF
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707
Tags
Green List (high evidence)
BRAT1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Tags
Green List (high evidence)
BRSK1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
Green List (high evidence)
BSCL2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
Tags
Green List (high evidence)
BTD
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Biotinidase deficiency 253260
Tags
Green List (high evidence)
C12orf57
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Temtamy syndrome 218340
Tags
Green List (high evidence)
C12orf66
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Tags
  • new-gene-name
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)
CACNA1A
10 reviews
3 green 4 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 42, OMIM:617106
  • developmental and epileptic encephalopathy, 42, MONDO:0014917
  • Episodic ataxia, type 2, OMIM:108500
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500
Tags
Green List (high evidence)
CACNA1B
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497
  • Global developmental delay
  • Developmental regression
  • Seizures
  • Intellectual disability
  • Abnormality of movement
  • Progressive Epilepsy-Dyskinesia
Tags
Green List (high evidence)
CACNA1C
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Timothy syndrome OMIM:601005
  • CACNA1C-related disorder
Tags
Green List (high evidence)
CACNA1D
4 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD
  • Sinoatrial node dysfunction and deafness 614896 AR
Tags
Green List (high evidence)
CACNA1E
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Dystonia
  • Congenital contracture
  • Macrocephaly
Tags
Green List (high evidence)
CACNA1G
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Spinocerebellar ataxia 42 616795
Tags
  • missense
Green List (high evidence)
CACNA1I
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114
Tags
Green List (high evidence)
CACNA2D2
7 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Absence epilepsy
  • Cerebellar atrophy with seizures and variable developmental delay, 618501
Tags
Green List (high evidence)
CAD
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 50, OMIM:616457
Tags
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)
CAPRIN1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
Tags
Green List (high evidence)
CARS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 27, 616672
Tags
Green List (high evidence)
CASK
8 reviews
2 green 4 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749
  • Mental retardation, with or without nystagmus 300422
Tags
Green List (high evidence)
CC2D2A
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 9 612285
Tags
Green List (high evidence)
CCDC88A
7 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • PEHO syndrome-like, OMIM:617507
Tags
Green List (high evidence)
CDK19
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile 87 618916
Tags
Green List (high evidence)
CDK5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
  • lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Tags
Green List (high evidence)
CDKL5
7 reviews
5 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Angelman syndrome-like
  • Epileptic encephalopathy, early infantile, 2
Tags
Green List (high evidence)
CELF2
4 reviews
4 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)
CEP85L
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lissencephaly 10, OMIM:618873
  • Lissencephaly 10, MONDO:0030031
Tags
  • gene-checked
Green List (high evidence)
CERS1
6 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, progressive myoclonic, 8 OMIM:616230
  • progressive myoclonic epilepsy type 8 MONDO:0014545
Tags
Green List (high evidence)
CHD2
8 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, childhood-onset 615369
Tags
Green List (high evidence)
CHD4
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Sifrim-Hitz-Weiss syndrome, OMIM:617159
Tags
Green List (high evidence)
CHD5
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • OMIM:610771
  • Intellectual disability, MONDO:0001071
  • Epilepsy, MONDO:0005027
Tags
Green List (high evidence)
CHKA
3 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)
CHRNA2
10 reviews
6 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, nocturnal frontal lobe, type 4, OMIM:610353
  • autosomal dominant nocturnal frontal lobe epilepsy 4, MONDO:0012474
Tags
Green List (high evidence)
CHRNA4
9 reviews
5 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1 600513
Tags
Green List (high evidence)
CHRNB2
10 reviews
5 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3 605375
Tags
Green List (high evidence)
CIC
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
Tags
Green List (high evidence)
CLCN3
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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
4 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Raynaud-Claes syndrome, OMIM:300114
Tags
Green List (high evidence)
CLDN5
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green List (high evidence)
CLN3
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 204200
Tags
Green List (high evidence)
CLN8
7 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Tags
Green List (high evidence)
CLPB
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 56, OMIM:617854
Tags
Green List (high evidence)
CNKSR2
4 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
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation, OMIM:616418
  • Hypomagnesemia, seizures, and mental retardation, MONDO:0014631
Tags
Green List (high evidence)
CNOT9
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green List (high evidence)
CNPY3
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 60 617929
Tags
Green List (high evidence)
CNTN2
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400
Tags
Green List (high evidence)
CNTNAP2
8 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome
  • Pitt-Hopkins like syndrome 1
Tags
Green List (high evidence)
COG7
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779
Tags
Green List (high evidence)
COL18A1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Knobloch syndrome, type 1, OMIM:267750
Tags
Green List (high evidence)
COL4A1
8 reviews
2 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
  • Brain small vessel disease with or without ocular anomalies 607595
  • Porencephaly 1 175780
  • Schizencephaly 269160
Tags
Green List (high evidence)
COL4A2
8 reviews
2 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Porencephaly 2 614483
Tags
Green List (high evidence)
COL4A3BP
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 34, OMIM:616351
Tags
  • new-gene-name
Green List (high evidence)
COQ2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green List (high evidence)
COQ4
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7 616276
Tags
Green List (high evidence)
COQ9
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
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)
CREBBP
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Rubinstein-Taybi syndrome 1 180849
Tags
Green List (high evidence)
CRELD1
6 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
  • Jeffries-Lakhani neurodevelopmental syndrome, MONDO:0958329
Tags
Green List (high evidence)
CRNKL1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
Green List (high evidence)
CSNK2B
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732
  • Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889
Tags
Green List (high evidence)
CSTB
9 reviews
3 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
  • nucleotide-repeat-expansion
Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
  • STR
Green List (high evidence)
CTNNA2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Tags
Green List (high evidence)
CTSD
7 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Green List (high evidence)
CTSF
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362
  • neuronal ceroid lipofuscinosis 13, MONDO:0014147
Tags
Green List (high evidence)
CUL3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures, OMIM:619239
Tags
Green List (high evidence)
CUL4B
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
  • seizures
Tags
Green List (high evidence)
CUX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Global developmental delay with or without impaired intellectual development, OMIM:618330
  • global developmental delay with or without impaired intellectual development, MONDO:0032680
Tags
Green List (high evidence)
CUX2
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 67, OMIM:618141
  • Infantile onset myoclonic epileptic encephalopathy
Tags
Green List (high evidence)
CYFIP2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 65, 618008
Tags
Green List (high evidence)
D2HGDH
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • D-2-hydroxyglutaric aciduria, 600721
  • generalized tonic-clonic seizures
  • absence seizures
  • tonic seizures
  • tonic-clonic seizures
  • myoclonic seizures
Tags
Green List (high evidence)
DBT
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Maple syrup urine disease, type II, 248600
  • seizures
  • convulsions
Tags
Green List (high evidence)
DCX
4 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Lissencephaly, X-linked, OMIM:300067
  • Subcortical laminal heterotopia, X-linked, OMIM:300067
Tags
Green List (high evidence)
DDC
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aromatic L-amino acid decarboxylase deficiency, OMIM:608643
  • Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
Tags
Green List (high evidence)
DDX3X
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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Tags
Green List (high evidence)
DEAF1
7 reviews
3 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Tags
Green List (high evidence)
DEGS1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Leukodystrophy hypomyelinating 18, 618404
  • seizures
Tags
Green List (high evidence)
DENND5A
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, 617281
Tags
Green List (high evidence)
DEPDC5
10 reviews
4 green 4 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, OMIM:604364
Tags
Green List (high evidence)
DHDDS
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, OMIM:617836
Tags
Green List (high evidence)
DHPS
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Abnormality of head or neck
  • Seizures
  • EEG abnormality
  • Behavioral abnormality
  • Abnormal muscle tone
  • Intellectual disability
  • Global developmental delay
Tags
Green List (high evidence)
DHX30
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with severe motor impairment and absent language 617804
Tags
Green List (high evidence)
DIAPH1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Wessex and West Midlands GLH
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, MIM:616632
Tags
Green List (high evidence)
DLL1
4 reviews
2 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)
DMXL2
5 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Epileptic encephalopathy, early infantile, 81, MIM 618663
  • Ohtahara syndrome
Tags
Green List (high evidence)
DNAJC6
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Parkinson disease 19b, early-onset, OMIM:615528
  • Parkinson disease 19a juvenile-onset, OMIM:615528
  • juvenile onset Parkinson disease 19A, MONDO:0014231
Tags
Green List (high evidence)
DNM1
8 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 31, OMIM:616346
Tags
  • watchlist_moi
Green List (high evidence)
DNM1L
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
  • refractory epilepsy
  • refractory focal status epilepticus
Tags
Green List (high evidence)
DOCK7
7 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
  • EIEE23
Tags
Green List (high evidence)
DOLK
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Im, OMIM:610768
  • DK1-congenital disorder of glycosylation, MONDO:0012556
Tags
Green List (high evidence)
DPAGT1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093
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
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ie, OMIM:608799
Tags
Green List (high evidence)
DPYD
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 5-fluorouracil toxicity 274270
  • Dihydropyrimidine dehydrogenase deficiency 274270
Tags
Green List (high evidence)
DROSHA
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • 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
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)
DYNC1H1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 13, 614563
  • malformations of cortical development (MCD)
  • Lennox Gastaut
  • Early-onset epilepsy
  • Late-onset epilepsy
  • Focal seizures
Tags
Green List (high evidence)
DYRK1A
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Tags
Green List (high evidence)
EARS2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 12, 614924
  • Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
  • Drug-refractory seizures
  • Epilepsy
Tags
Green List (high evidence)
EEF1A2
9 reviews
1 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 33 616409
Tags
Green List (high evidence)
EEFSEC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102
Tags
Green List (high evidence)
EFTUD2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
Tags
Green List (high evidence)
EHMT1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Kleefstra syndrome
Tags
Green List (high evidence)
EIF2B1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green List (high evidence)
EIF2B2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green List (high evidence)
EIF2B3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green List (high evidence)
EIF2B4
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green List (high evidence)
EIF2B5
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukoencephalopathy with vanishing white matter 603896
  • Ovarioleukodystrophy 603896
Tags
Green List (high evidence)
EIF2S3
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • MEHMO syndrome, 300148
Tags
Green List (high evidence)
EIF3F
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal recessive 67, OMIM:618295
Tags
Green List (high evidence)
EIF4A2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder
Tags
Green List (high evidence)
ELFN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
Tags
Green List (high evidence)
EMC10
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264
Tags
Green List (high evidence)
EML1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Band heterotopia, OMIM:600348
Tags
Green List (high evidence)
ENTPD1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Spastic paraplegia 64, autosomal recessive, OMIM:615683
Tags
Green List (high evidence)
EPB41L3
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Developmental disorder with seizures and myelination defects
Tags
Green List (high evidence)
EPG5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green List (high evidence)
EPM2A
7 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Myoclonic epilepsy of Lafora 1, OMIM:254780
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)
ETHE1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Ethylmalonic encephalopathy, 602473
Tags
Green List (high evidence)
EXOSC3
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, OMIM:614678
Tags
Green List (high evidence)
EXT2
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682
  • seizures-scoliosis-macrocephaly syndrome, MONDO:0014731
Tags
Green List (high evidence)
FAR1
6 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
  • fatty acyl-CoA reductase 1 deficiency, MONDO:0014510
Tags
Green List (high evidence)
FARS2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green List (high evidence)
FASTKD2
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 44, OMIM:618855
Tags
Green List (high evidence)
FBXL4
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471
  • mitochondrial DNA depletion syndrome 13 MONDO:0014198
Tags
Green List (high evidence)
FBXO11
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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)
FGF12
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 47, 617166
Tags
Green List (high 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 Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy
  • Intellectual disability
  • Infantile-onset seizures
Tags
Green List (high evidence)
FGFR3
6 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hypochondroplasia, OMIM:146000
  • hypochondroplasia, MONDO:0007793
Tags
Green List (high evidence)
FKTN
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800
  • seizures
  • Walker-warburg syndrome or muscle-eye-brain disease
  • Fukuyama congenital muscular dystrophy
Tags
Green List (high evidence)
FLNA
6 reviews
3 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 Green
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Heterotopia, periventricular OMIM:300049
Tags
Green List (high evidence)
FLVCR1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060
  • neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
Tags
Green List (high evidence)
FOLR1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • seizures
Tags
Green List (high evidence)
FOXG1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454
  • Rett syndrome, congenital variant MONDO:0013270
Tags
Green List (high evidence)
FOXRED1
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241
  • mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624
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)
FRRS1L
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile 37, 616981
Tags
Green List (high evidence)
FUCA1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Fucosidosis, 230000
  • seizures
Tags
Green List (high evidence)
FUK
7 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324
  • congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777
Tags
  • new-gene-name
Green List (high evidence)
FUT8
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
  • seizures
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
8 reviews
1 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 59, OMIM:617904
Tags
Green List (high evidence)
GABRA1
8 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • {Epilepsy, childhood absence, susceptibility to, 4} 611136
  • {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
Tags
Green List (high evidence)
GABRA2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 78, 618557
Tags
  • missense
Green List (high evidence)
GABRA5
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 79, 618559
Tags
  • missense
Green List (high evidence)
GABRB1
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 45, OMIM:617153
  • developmental and epileptic encephalopathy, 45, MONDO:0014942
Tags
Green List (high evidence)
GABRB2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2, 617829
Tags
Green List (high evidence)
GABRB3
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
  • EPILEPTIC ENCEPHALOPATHIES
Tags
Green List (high evidence)
GABRD
10 reviews
1 green 6 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • {Epilepsy, idiopathic generalized, 10}, OMIM:613060
  • {Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060
  • {Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, OMIM:613060
Tags
Green List (high evidence)
GABRG2
10 reviews
1 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Krabbe disease, OMIM:245200
Tags
Green List (high evidence)
GALNT2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIt OMIM:618885
Tags
Green List (high evidence)
GAMT
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736
  • Seizures
  • Deficiency of guanidinoacetate methyltransferase
  • GAMT deficiency
Tags
Green List (high evidence)
GBA
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type II, 230900
  • Gaucher disease, type III, 231000
  • Gaucher disease, type IIIC, 231005
  • seizures
Tags
  • new-gene-name
Green List (high evidence)
GCSH
6 reviews
2 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423
  • Glycine encephalopathy
  • Transient neonatal hyperglycinemia
Tags
Green List (high evidence)
GFAP
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Alexander disease, 203450
  • seizures
Tags
Green List (high evidence)
GLB1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • GM1-gangliosidosis, type II, 230600
  • seizures
Tags
Green List (high evidence)
GLDC
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Glycine encephalopathy, 605899
  • seizures
Tags
Green List (high evidence)
GLRA2
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
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076
Tags
Green List (high evidence)
GLS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental and epileptic encephalopathy 71, OMIM:618328
Tags
Green List (high evidence)
GLUD1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
  • epilepsy
Tags
Green List (high evidence)
GLUL
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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)
GM2A
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750
  • seizures
  • Hexosaminidase activator deficiency
  • Tay-Sachs disease
Tags
Green List (high evidence)
GNAO1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Epileptic encephalopathy, early infantile, 17
Tags
Green List (high evidence)
GNAQ
5 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Tags
  • mosaicism
  • somatic
Green List (high evidence)
GNB1
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 42 OMIM:616973
  • intellectual disability, autosomal dominant 42 MONDO:0014855
Tags
Green List (high evidence)
GNB5
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173
Tags
Green List (high evidence)
GOSR2
8 reviews
3 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
  • founder-effect
Green List (high evidence)
GOT2
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 82, OMIM:618721
  • Developmental and epileptic encephalopathy, 82, MONDO:0032880
Tags
  • treatable
Green List (high evidence)
GPAA1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green List (high evidence)
GPHN
9 reviews
3 green 4 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Molybdenum cofactor deficiency C, OMIM:615501
  • Developmental and epileptic encephalopathy, MONDO:0100062
Tags
Green List (high evidence)
GRIA2
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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)
GRIA4
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Tags
Green List (high evidence)
GRIK2
6 reviews
5 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
8 reviews
5 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, focal, with speech disorder and with or without mental retardation
  • EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
  • LANDAU-KLEFFNER SYNDROME
Tags
Green List (high evidence)
GRIN2B
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 46 617162
Tags
Green List (high evidence)
GRM7
3 reviews
3 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)
GRN
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
  • neuronal ceroid lipofuscinosis 1, MONDO:0013866
Tags
Green List (high evidence)
GTF3C3
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201
Tags
Green List (high evidence)
GTPBP2
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Jaberi-Elahi syndrome 617988
  • Global developmental delay
  • Intellectual disability
  • Seizures
Tags
Green List (high evidence)
H3F3A
7 reviews
2 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental delay
  • Intellectual disability
  • Neurodegeneration
  • Epilepsy
  • Facial dysmorphism
  • Congenital anomalies
Tags
  • new-gene-name
Green List (high evidence)
H3F3B
8 reviews
2 green 3 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental delay
  • Intellectual disability
  • Neurodegeneration
  • Epilepsy
  • Facial dysmorphism
  • Congenital anomalies
Tags
  • new-gene-name
Green List (high evidence)
HACE1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures 616756
Tags
Green List (high evidence)
HAX1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Green List (high evidence)
HCFC1
4 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Tags
Green List (high evidence)
HCN1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 24
Tags
Green List (high evidence)
HCN2
7 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Generalized epilepsy with febrile seizures plus, type 11, OMIM:602477
  • neurodevelopmental disorder, MONDO:0700092
Tags
Green List (high evidence)
HECTD4
3 reviews
3 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
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268
Tags
Green List (high evidence)
HEPACAM
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925
Tags
Green List (high evidence)
HERC2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 38, OMIM:615516
Tags
Green List (high evidence)
HEXA
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green List (high evidence)
HEXB
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800
Tags
Green List (high evidence)
HID1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Syndromic infantile encephalopathy
  • Hypopituitarism
  • Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Tags
Green List (high evidence)
HMGCL
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Wessex and West Midlands GLH
Phenotypes
  • HMG-CoA lyase deficiency, 246450
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMGCLD
Tags
Green List (high evidence)
HNRNPH2
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
  • NHS GMS
  • Other
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked, syndromic, Bain type, 300986
  • MRXSB
Tags
Green List (high evidence)
HNRNPR
6 reviews
1 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
7 reviews
1 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 54, OMIM:617391
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)
HRAS
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Costello syndrome, 218040
  • Schimmelpenning-Feuerstein-Mims syndrome, 218040
Tags
Green List (high evidence)
HSD17B10
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
  • HSD10 mitochondrial disease, OMIM:300438
Tags
Green List (high evidence)
HSD17B4
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • D-bifunctional protein deficiency, 261515
Tags
Green List (high evidence)
HTRA2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • 3-methylglutaconic aciduria, type VIII
Tags
Green List (high evidence)
IER3IP1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Other
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Green List (high evidence)
IFIH1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Aicardi-Goutieres syndrome 7, OMIM:615846
Tags
Green List (high evidence)
IKBKG
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
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Incontinentia pigmenti, OMIM:308300
Tags
  • currently-ngs-unreportable
Green List (high evidence)
INPP4A
7 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
Green List (high evidence)
IQSEC2
7 reviews
5 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
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder, X-linked 1, OMIM:309530
Tags
Green List (high evidence)
IRF2BPL
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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)
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37411-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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) Loss
ISCA-37415-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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)
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain
Region
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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
  • watchlist
Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Wolf-Hirschhorn syndrome, OMIM:194190
Tags
Green List (high evidence)
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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)
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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)
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • micrognathia
  • 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
  • clefting
  • DiGeorge syndrome
  • Velocardiofacial syndrome
  • 188400
  • cardiac malformations
  • Hearing deficits
Tags
Green List (high 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 Green
Phenotypes
  • Developmental delay/intellectual disability, epilepsy, autism spectrum disorder, schizophrenia, congenital heart disease, and variable dysmorphic features
Tags
Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105830
Tags
Green List (high evidence)
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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)
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain
Region
2 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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)
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
  • NHS GMS
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)
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)
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)
ITPA
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, 616647
Tags
Green List (high evidence)
KARS
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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
7 reviews
2 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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)
KAT8
6 reviews
3 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
  • watchlist_moi
Green List (high evidence)
KCNA1
8 reviews
2 green 5 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Episodic ataxia/ myokymia syndrome, OMIM:160120
  • epilepsy, MONDO:0005027
Tags
Green List (high evidence)
KCNA2
8 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 32 OMIM:616366
  • developmental and epileptic encephalopathy, 32 MONDO:0014607
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
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green List (high evidence)
KCNB1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 26
Tags
Green List (high evidence)
KCNC1
8 reviews
1 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, progressive myoclonic 7 616187
Tags
Green List (high evidence)
KCNC2
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • epileptic encephalopathy
  • spastic tetraplegia
  • opisthotonus attacks
  • intellectual disability
  • West syndrome
Tags
Green List (high evidence)
KCND2
7 reviews
2 green 3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • epilepsy, NBO:0000642
  • seizure, HP:0001250
Tags
  • gene-checked
Green List (high evidence)
KCND3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Spinocerebellar ataxia 19 (OMIM: 607346)
  • spinocerebellar ataxia type 19/22, MONDO:0011819
Tags
Green List (high evidence)
KCNH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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
7 reviews
3 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 112, OMIM:620537
Tags
Green List (high evidence)
KCNJ10
7 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)
  • SESAME syndrome
Tags
Green List (high evidence)
KCNJ11
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Diabetes, permanent neonatal, with or without neurologic features, 606176
  • DEND syndrome
Tags
Green List (high evidence)
KCNK4
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental delay
  • Intellectual disability
  • Seizures
  • Gingival overgrowth
  • Hypertrichosis
Tags
Green List (high evidence)
KCNMA1
13 reviews
4 green 5 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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)
KCNQ2
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 7, OMIM:613720
  • Seizures, benign neonatal, 1, OMIM:121200
Tags
Green List (high evidence)
KCNQ3
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Seizures, benign neonatal, type 2
Tags
Green List (high evidence)
KCNQ5
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 46, 617601
Tags
Green List (high evidence)
KCNT1
8 reviews
6 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 14
  • Epilepsy, nocturnal frontal lobe, 5
  • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
  • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Tags
Green List (high evidence)
KCNT2
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 57, OMIM:617771
  • developmental and epileptic encephalopathy, 57, MONDO:0033366
Tags
Green List (high evidence)
KCTD3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • No OMIM number
  • Epileptic encephalopathy
Tags
  • gene-checked
Green List (high evidence)
KCTD7
7 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Tags
Green List (high evidence)
KDM6B
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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)
KIAA1109
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Alkuraya-Kucinskas syndrome 617822
  • seizures
Tags
  • new-gene-name
Green List (high evidence)
KIF1A
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • NESCAV syndrome, OMIM:614255
Tags
Green List (high evidence)
KIF2A
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3, 615411
Tags
Green List (high evidence)
KIF5C
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, 615282
Tags
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)
KMT2E
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • O'Donnell-Luria-Rodan syndrome, 618512
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Seizures
  • Abnormality of skull size
Tags
Green List (high evidence)
KPTN
5 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 41, OMIM:615637
  • macrocephaly-developmental delay syndrome, MONDO:0014289
Tags
Green List (high evidence)
KRAS
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiofaciocutaneous syndrome 2, 615278
Tags
Green List (high evidence)
LAMC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Cortical malformations, occipital, OMIM:614115
  • occipital pachygyria and polymicrogyria, MONDO:0013583
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
3 reviews
3 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)
LGI1
11 reviews
6 green 1 red 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, familial temporal lobe, 1, OMIM:600512
  • developmental and epileptic encephalopathy, MONDO:0100620
Tags
Green List (high evidence)
LIAS
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperglycinemia, lactic acidosis, and seizures, 614462
Tags
Green List (high evidence)
LMBRD2
4 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)
LNPK
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Tags
Green List (high evidence)
LSS
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Alopecia-intellectual disability syndrome 4, OMIM:618840
  • alopecia-intellectual disability syndrome 4, MONDO:0030009
Tags
Green List (high evidence)
MACF1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual disability
  • Seizures
  • Lissencephaly
  • Brainstem dysplasia
  • Lissencephaly 9 with complex brainstem malformation, 618325
Tags
Green List (high evidence)
MADD
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ayme-Gripp syndrome 601088
Tags
Green List (high evidence)
MAP2K1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiofaciocutaneous syndrome 3, 615279
Tags
Green List (high evidence)
MAP2K2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiofaciocutaneous syndrome 4, 615280
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)
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
3 reviews
3 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)
MBD5
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 1
Tags
Green List (high evidence)
MBOAT7
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal recessive 57 617188
Tags
Green List (high evidence)
MDH2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 51
Tags
Green List (high evidence)
MECP2
8 reviews
6 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Encephalopathy, neonatal severe
  • Angelman syndrome
  • Mental retardation, X-linked syndromic, Lubs type
  • Mental retardation, X-linked, syndromic 13
  • Rett syndrome
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
7 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
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Opitz-Kaveggia syndrome, 305450
Tags
  • Skewed X-inactivation
Green List (high evidence)
MED27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Axial hypotonia
  • Spasticity
  • Dystonia
  • Cerebellar hypoplasia
  • Cataracts
  • Epilepsy
Tags
Green List (high evidence)
MEF2C
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 20
  • MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Tags
Green List (high evidence)
MFF
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Tags
Green List (high evidence)
MFSD8
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 610951
Tags
Green List (high evidence)
MINPP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia
Tags
Green List (high evidence)
MLC1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts, 604004
  • generalized tonic-clonic seizures
  • focal seizures
Tags
Green List (high evidence)
MMACHC
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green List (high evidence)
MMADHC
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410
Tags
Green List (high evidence)
MOCS1
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Molybdenum cofactor deficiency A 252150
Tags
Green List (high evidence)
MOCS2
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Molybdenum cofactor deficiency B 252160
Tags
Green List (high evidence)
MOGS
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type IIb, 606056
Tags
Green List (high evidence)
MPDU1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type If, 609180
  • seizures
Tags
Green List (high evidence)
MT-TK
2 reviews
2 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • MERRF syndrome, MONDO:0010790
Tags
  • locus-type-rna-transfer
Green List (high evidence)
MTHFR
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Homocystinuria due to MTHFR deficiency, 236250
  • seizures
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)
MTOR
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Smith-Kingsmore syndrome, OMIM:616638
  • macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MONDO:0014716
  • Focal cortical dysplasia, type II, somatic, OMIM:607341isolated focal cortical dysplasia type II, MONDO:0011818
Tags
Green List (high evidence)
NACC1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393
Tags
Green List (high evidence)
NAGA
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Schindler disease, type I, 609241
  • seizures
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)
NARS2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 24, 616239
  • seizures
Tags
Green List (high evidence)
NBEA
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • No OMIM number
Tags
Green List (high evidence)
NDE1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Lissencephaly 4 (with microcephaly), 614019
Tags
Green List (high evidence)
NDUFA1
4 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Green List (high evidence)
NDUFA10
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leigh syndrome, 256000
Tags
Green List (high evidence)
NDUFAF2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Green List (high evidence)
NDUFAF5
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex 1 deficiency 252010
Tags
Green List (high evidence)
NDUFS4
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leigh syndrome 256000
  • Mitochondrial complex I deficiency 252010
Tags
Green List (high evidence)
NDUFS8
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 2, 618222
  • Leigh syndrome due to mitochondrial complex I deficiency
Tags
Green List (high evidence)
NDUFV1
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Green List (high evidence)
NEDD4L
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Periventricular nodular heterotopia 7, OMIM:617201
  • periventricular nodular heterotopia 7, MONDO:0014966
Tags
Green List (high evidence)
NEUROD2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Developmental and epileptic encephalopathy 72, OMIM:618374
Tags
Green List (high evidence)
NEXMIF
8 reviews
5 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
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked 98, 300912
Tags
Green List (high evidence)
NGLY1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of deglycosylation 615273
Tags
Green List (high evidence)
NHLRC1
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
Green List (high evidence)
NOTCH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Green List (high evidence)
NPRL2
9 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, familial focal, with variable foci 2, OMIM:617116
Tags
Green List (high evidence)
NPRL3
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, familial focal, with variable foci 3, 617118
Tags
Green List (high evidence)
NR4A2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911
Tags
Green List (high evidence)
NRROS
1 review
1 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
9 reviews
2 green 4 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR)
  • Complex neurodevelopmental disorder (AD)
Tags
Green List (high evidence)
NSD1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Sotos syndrome 1, 117550
Tags
Green List (high evidence)
NSDHL
4 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • CK syndrome 300831
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)
NTRK2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 58 (MIM 617830)
  • Obesity, hyperphagia, and developmental delay (MIM 613886)
Tags
Green List (high evidence)
NUP214
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
  • encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
Tags
Green List (high evidence)
NUS1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 55, with seizures, OMIM:617831
  • Congenital disorder of glycosylation, type 1aa, OMIM:617082
Tags
Green List (high evidence)
OCLN
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pseudo-TORCH syndrome 1 251290
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)
OPHN1
4 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486
  • MENTAL RETARDATION X-LINKED OPHN1-RELATED
Tags
Green List (high evidence)
OTUD6B
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452
Tags
Green List (high evidence)
OTUD7A
5 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100062
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493
  • Seizures
  • Intellectual disability
  • Global developmental delay
Tags
Green List (high evidence)
PABPC1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Global developmental delay
  • Expressive language delay
  • Intellectual disability
  • Behavioral abnormality
  • Seizures
Tags
  • gene-checked
Green List (high evidence)
PACS1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Schuurs-Hoeijmakers syndrome, 615009
Tags
Green List (high evidence)
PACS2
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 66, 618067
Tags
Green List (high evidence)
PAFAH1B1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Lissencephaly 1, OMIM:607432
  • Subcortical laminar heterotopia, OMIM:607432
Tags
Green List (high evidence)
PAH
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Phenylketonuria 261600
Tags
Green List (high evidence)
PAK1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Tags
Green List (high evidence)
PARS2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 75, 618437
Tags
Green List (high evidence)
PCCA
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Propionicacidemia 606054
Tags
Green List (high evidence)
PCCB
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Propionicacidemia 606054
Tags
Green List (high evidence)
PCDH12
6 reviews
2 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly, seizures, spasticity, and brain calcification 251280
Tags
Green List (high evidence)
PCDH19
8 reviews
5 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 9
Tags
Green List (high evidence)
PCDHGC4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
Tags
Green List (high evidence)
PCYT2
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Developmental regression
  • Intellectual disability
  • Spastic paraparesis
  • Seizures
  • Cerebral atrophy
  • Cerebellar atrophy
  • Spastic paraplegia 82, autosomal recessive, 618770
Tags
Green List (high evidence)
PDHA1
4 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pyruvate dehydrogenase E1-alpha deficiency 312170
  • X-LINKED LEIGH SYNDROME
  • PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES
  • INTELLECTUAL DISABILTIY
Tags
Green List (high evidence)
PDHX
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Lacticacidemia due to PDX1 deficiency, OMIM:245349
Tags
Green List (high evidence)
PET100
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • seizures
Tags
  • founder-effect
Green List (high evidence)
PGM2L1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191
Tags
Green List (high evidence)
PHACTR1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 70, OMIM:618298
Tags
Green List (high evidence)
PHGDH
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency 601815
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)
PIDD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • 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
8 reviews
6 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868
Tags
  • Skewed X-inactivation
Green List (high evidence)
PIGB
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 80, OMIM:618580
Tags
Green List (high evidence)
PIGC
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816
Tags
Green List (high evidence)
PIGG
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917
Tags
Green List (high evidence)
PIGH
5 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 17, 618010
  • epilepsy
  • febrile seizures
Tags
Green List (high evidence)
PIGK
3 reviews
2 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)
PIGM
5 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glycosylphosphatidylinositol deficiency, OMIM:610293
Tags
  • non-coding-known-pathogenic
  • promoter
Green List (high evidence)
PIGN
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Tags
Green List (high evidence)
PIGO
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2, 614749
Tags
Green List (high evidence)
PIGP
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 55, OMIM:617599
Tags
Green List (high evidence)
PIGQ
12 reviews
2 green 5 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome-4, OMIM:618548
Tags
Green List (high evidence)
PIGT
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3
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)
PIGW
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 11, 616025
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5
Tags
Green List (high evidence)
PIK3R2
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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
  • epilepsy, MONDO:0005027
Tags
Green List (high evidence)
PLA2G6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Other
Phenotypes
  • Infantile neuroaxonal dystrophy 1, OMIM:256600
  • neurodegeneration with brain iron accumulation 2A, MONDO:0024457
  • Neurodegeneration with brain iron accumulation 2B, OMIM:610217
  • neurodegeneration with brain iron accumulation 2B, MONDO:0012444
  • Parkinson disease 14, autosomal recessive, OMIM:612953
  • autosomal recessive Parkinson disease 14, MONDO:0013060
Tags
  • watchlist_moi
Green List (high evidence)
PLAA
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527
  • Lethal Infantile Epileptic Encephalopathy
Tags
Green List (high evidence)
PLCB1
7 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Recessive
  • Epileptic encephalopathy, early infantile, 12
Tags
Green List (high evidence)
PLK1
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100062
Tags
  • gene-checked
Green List (high evidence)
PLPBP
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, 617290
Tags
Green List (high evidence)
PLXNA1
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
Green List (high evidence)
PMM2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green List (high evidence)
PMPCB
4 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954
  • multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785
Tags
Green List (high evidence)
PNKP
7 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Early infantile epileptic encephalopathy type 10
  • Ataxia-oculomotor apraxia 4
  • Microcephaly, seizures, and developmental delay
Tags
Green List (high evidence)
PNPLA8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • ?Mitochondrial myopathy with lactic acidosis, OMIM:251950
  • mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825
Tags
Green List (high evidence)
PNPO
8 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, 610090
Tags
  • treatable
Green List (high evidence)
PNPT1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 13, OMIM:614932
  • Combined oxidative phosphorylation defect type 13, MONDO:0013977
Tags
Green List (high evidence)
POLG
8 reviews
6 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type)
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Tags
Green List (high evidence)
POMGNT1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Tags
Green List (high evidence)
POMT1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
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
2 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)
PPOX
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
Phenotypes
  • Variegate porphyria, childhood-onset, OMIM:620483
  • variegate porphyria, childhood-onset, MONDO:0957577
Tags
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
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green List (high evidence)
PPP2CA
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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)
PPP2R2B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental syndrome
Tags
Green List (high evidence)
PPP2R5C
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Houge-Janssens syndrome 4, OMIM:621185
Tags
Green List (high evidence)
PPP3CA
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 1 617711
Tags
Green List (high evidence)
PPT1
9 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1 256730
Tags
Green List (high evidence)
PRMT7
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
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)
PRRT2
8 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis
  • Episodic kinesigenic dyskinesia 1
  • Seizures, benign familial infantile, 2
  • BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
Tags
Green List (high evidence)
PSAP
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined SAP deficiency 611721
Tags
Green List (high evidence)
PTCD3
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
  • combined oxidative phosphorylation deficiency 51, MONDO:0033631
Tags
Green List (high evidence)
PTEN
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome
  • BANNAYAN-RILEY-RUVALCABA SYNDROME
Tags
Green List (high evidence)
PTPN23
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Rare severe autosomal-recessive developmental and epileptic encephalopathy
  • Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
Tags
Green List (high evidence)
PTS
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
Tags
Green List (high evidence)
PUM1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 47 617931
Tags
Green List (high evidence)
PURA
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 31
  • INTELLECTUAL DISABILITY
Tags
Green List (high evidence)
QARS
8 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Tags
  • new-gene-name
Green List (high evidence)
RAB11B
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Tags
Green List (high evidence)
RAB18
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Warburg micro syndrome 3, 614222
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)
RAC3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577
Tags
Green List (high evidence)
RALA
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Abnormality of nervous system morphology
Tags
Green List (high evidence)
RALGAPA1
4 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)
RARS
3 reviews
1 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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523
Tags
Green List (high evidence)
RELN
4 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Lissencephaly 2 (Norman-Roberts type), OMIM:257320
  • Norman-Roberts syndrome, MONDO:0009760
  • {Epilepsy, familial temporal lobe, 7}, OMIM:616436
  • familial temporal lobe epilepsy 7, MONDO:0014639
Tags
  • missense
Green List (high evidence)
RFT1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type In, 612015
Tags
Green List (high evidence)
RHEB
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epilepsy and cortical dysplasia
Tags
  • gene-checked
  • mosaicism
  • somatic
Green List (high evidence)
RHOBTB2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 64 618004
Tags
Green List (high evidence)
RMND1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, 614922
Tags
Green List (high evidence)
RNASEH2A
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Aicardi-Goutieres syndrome 4, 610333
Tags
Green List (high evidence)
RNASEH2B
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Aicardi-Goutieres syndrome 2, OMIM:610181
Tags
Green List (high evidence)
RNASEH2C
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Aicardi-Goutieres syndrome 3, 610329
Tags
Green List (high evidence)
RNASET2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly 612951
Tags
Green List (high evidence)
RNF113A
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
  • Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Tags
  • Skewed X-inactivation
Green List (high evidence)
RNF13
7 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 73, OMIM:618379
Tags
Green List (high evidence)
RNU2-2P
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
  • locus-type-rna-small-nuclear
  • new-gene-name
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)
RNU5B-1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
  • RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179
Tags
  • gene-checked
  • locus-type-rna-small-nuclear
Green List (high evidence)
ROGDI
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Kohlschutter-Tonz syndrome 226750
Tags
Green List (high evidence)
RORA
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Tags
Green List (high evidence)
RORB
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357
Tags
Green List (high evidence)
RTN4IP1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Tags
Green List (high evidence)
RTTN
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures 614833
Tags
Green List (high evidence)
SAMHD1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952
  • seizures
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
  • watchlist_moi
Green List (high evidence)
SATB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder
Tags
Green List (high evidence)
SATB2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Glass syndrome, OMIM:612313
Tags
Green List (high evidence)
SCAF4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
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)
SCARB2
7 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Tags
Green List (high evidence)
SCN1A
8 reviews
6 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2 604403
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208
  • Febrile seizures, familial, 3A 604403
  • Migraine, familial hemiplegic, 3 609634
Tags
Green List (high evidence)
SCN1B
9 reviews
5 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 52, OMIM:617350 (AR)
  • Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD)
Tags
Green List (high evidence)
SCN2A
8 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 11 613721
  • Seizures, benign familial infantile, 3 607745
Tags
Green List (high evidence)
SCN3A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, familial focal, with variable foci 4 617935
  • Epileptic encephalopathy, early infantile, 62 617938
Tags
Green List (high evidence)
SCN8A
12 reviews
7 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 13, OMIM:614558
  • Seizures, benign familial infantile, 5, OMIM:617080
  • ?Myoclonus, familial, 2, OMIM:618364
Tags
Green List (high evidence)
SEMA6B
6 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic, 11 OMIM:618876
Tags
Green List (high evidence)
SEPSECS
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pontocerebellar hypoplasia type 2D 613811
Tags
Green List (high evidence)
SERPINI1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Encephalopathy, familial, with neuroserpin inclusion bodies 604218
Tags
Green List (high evidence)
SETBP1
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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)
SETD5
10 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 23, 615761
Tags
Green List (high evidence)
SGSH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900
  • seizures
Tags
Green List (high evidence)
SHQ1
3 reviews
2 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)
SIK1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
  • Epileptic encephalopathy, early infantile, 30
Tags
Green List (high evidence)
SLC12A5
8 reviews
6 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • epilepsy of infancy with migrating focal seizures (EIMFS)
  • Epileptic encephalopathy, early infantile, 34, 616645
  • {Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685
Tags
Green List (high evidence)
SLC13A3
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384
Tags
Green List (high evidence)
SLC13A5
7 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 25
Tags
Green List (high evidence)
SLC16A2
8 reviews
6 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
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Allan-Herndon-Dudley syndrome, OMIM:300523
Tags
Green List (high evidence)
SLC1A2
5 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 41, OMIM:617105
  • developmental and epileptic encephalopathy, 41, MONDO:0014916
Tags
Green List (high evidence)
SLC1A4
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Tags
Green List (high evidence)
SLC25A1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria
Tags
Green List (high evidence)
SLC25A12
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 39 612949
Tags
Green List (high evidence)
SLC25A22
7 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 3
Tags
Green List (high evidence)
SLC2A1
9 reviews
5 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Dystonia 9 601042 AD
  • GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR
  • GLUT1 deficiency syndrome 2, childhood onset 612126 AD
  • Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD
  • {Epilepsy, idiopathic generalized, susceptibility to, 12} 614847
Tags
  • treatable
Green List (high evidence)
SLC32A1
5 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Developmental and epileptic encephalopathy 114, OMIM:620774
  • Generalized epilepsy with febrile seizures plus, type 12, OMIM:620755
Tags
Green List (high evidence)
SLC35A2
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
  • NHS GMS
  • Other
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy)
  • Epileptic encephalopathy, early infantile, 22 (EIEE22)
  • early-onset epileptic encephalopathy
  • epilepsy
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)
SLC39A8
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type IIn, OMIM:616721
  • SLC39A8-CDG, MONDO:0014746
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)
SLC6A1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Myoclonic-atonic epilepsy, OMIM:616421
Tags
Green List (high evidence)
SLC6A8
8 reviews
2 green 4 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebral creatine deficiency syndrome 1 300352
Tags
Green List (high evidence)
SLC9A6
7 reviews
5 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
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
Tags
Green List (high evidence)
SMARCA2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Nicolaides-Baraitser syndrome 601358
Tags
Green List (high evidence)
SMARCC2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Coffin-Siris syndrome 8, 618362
  • 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)
SMC1A
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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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)
SMS
8 reviews
2 green 4 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked, Snyder-Robinson type 309583
Tags
Green List (high evidence)
SNAP25
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Myasthenic syndrome, congenital 18, 616330
  • ?Myasthenic syndrome, congenital, 18
Tags
Green List (high evidence)
SNIP1
7 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts 614561
Tags
  • locus-type-small-nucleolar
Green List (high evidence)
SPATA5
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
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)
SPOUT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Tags
Green List (high evidence)
SPTAN1
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • autosomal dominant neurodevelopmental syndrome
Tags
Green List (high evidence)
ST3GAL3
9 reviews
2 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 15, OMIM:615006
  • developmental and epileptic encephalopathy, 15, MONDO:0014003
Tags
Green List (high evidence)
ST3GAL5
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Salt and pepper developmental regression syndrome 609056
Tags
Green List (high evidence)
STAG1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 47 617635
Tags
Green List (high evidence)
STAMBP
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly-capillary malformation syndrome, OMIM:614261
Tags
Green List (high evidence)
STRADA
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087
Tags
Green List (high evidence)
STX1B
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Generalized epilepsy with febrile seizures plus, type 9, 616172
Tags
Green List (high evidence)
STXBP1
10 reviews
3 green 3 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Developmental and epileptic encephalopathy 4, OMIM:612164
Tags
Green List (high evidence)
SUCLA2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Tags
Green List (high evidence)
SUOX
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Sulfite oxidase deficiency
Tags
Green List (high evidence)
SURF1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Green List (high evidence)
SYN1
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 list
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491
Tags
Green List (high evidence)
SYNGAP1
6 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
Tags
Green List (high evidence)
SYNJ1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Other
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 53, 617389
Tags
Green List (high evidence)
SZT2
6 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 18,
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)
TANGO2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Tags
Green List (high evidence)
TARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 21, OMIM: 615918
  • combined oxidative phosphorylation defect type 21,NDO:0014398
Tags
Green List (high evidence)
TBC1D24
8 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • DOORS syndrome 220500
  • Epileptic encephalopathy, early infantile, 16 615338
  • Myoclonic epilepsy, infantile, familial 605021
Tags
Green List (high evidence)
TBC1D2B
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
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)
TBCD
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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)
TBCK
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900
  • seizures
Tags
Green List (high evidence)
TBL1XR1
7 reviews
2 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 41, 616944
  • Pierpont syndrome, 602342
Tags
Green List (high evidence)
TCF4
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pitt-Hopkins syndrome 610954
Tags
Green List (high evidence)
TDP2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23, 616949
Tags
Green List (high evidence)
TFE3
6 reviews
3 green 2 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066
Tags
  • Skewed X-inactivation
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
6 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • 3-methylglutaconic aciduria, type IX, 617698
  • intellectual disability and seizure
  • epilepsy and developmental delay
  • epileptic encephalopathy
Tags
Green List (high evidence)
TMEM167A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328
Tags
Green List (high evidence)
TMEM222
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
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)
TMEM63B
3 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)
TMX2
5 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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Intellectual disability
  • Dysmorphic features
  • Microcephaly
  • Seizures
  • Hypotonia
Tags
Green List (high evidence)
TPP1
8 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2 204500
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
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green List (high evidence)
TRAK1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 68 618201
Tags
Green List (high evidence)
TRAPPC12
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
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)
TREX1
3 reviews
2 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
  • Wessex and West Midlands GLH
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, 225750
  • seizures
  • Vasculopathy, retinal, with cerebral leukodystrophy, 192315
  • {Systemic lupus erythematosus, susceptibility to}, 152700
Tags
Green List (high evidence)
TRIM8
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Early-onset epileptic encephalopathy (EOEE)
  • EE
  • Seizures
Tags
Green List (high evidence)
TRIT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 35, OMIM:617873
  • combined oxidative phosphorylation deficiency 35, MONDO:0054742
Tags
  • gene-checked
Green List (high evidence)
TRPM3
7 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224
Tags
  • missense
Green List (high evidence)
TRPM6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hypomagnesemia 1, intestinal 602014
Tags
Green List (high evidence)
TRPM7
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • hypomagnesaemia with secondary hypocalcaemia
Tags
Green List (high evidence)
TSC1
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-1 191100
Tags
  • mosaicism
Green List (high evidence)
TSC2
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-2 613254
Tags
Green List (high evidence)
TSEN54
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • ?Pontocerebellar hypoplasia type 5, OMIM:610204
  • Pontocerebellar hypoplasia type 2A, OMIM:277470
  • Pontocerebellar hypoplasia type 4, OMIM:225753
Tags
Green List (high evidence)
TUBA1A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Lissencephaly 3, 611603
Tags
Green List (high evidence)
TUBB2A
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031
Tags
Green List (high evidence)
TUBB3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1, 614039
Tags
Green List (high evidence)
TUBB4A
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
Tags
Green List (high evidence)
TUBG1
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, 615412
Tags
Green List (high evidence)
TUBGCP2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Tags
  • gene-checked
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
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132
Tags
Green List (high evidence)
UBAP2L
3 reviews
1 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
7 reviews
5 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type
Tags
Green List (high evidence)
UBE3A
7 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Angelman syndrome 105830
Tags
Green List (high evidence)
UBR5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • complex neurodevelopmental disorder, MONDO:0100038
Tags
Green List (high evidence)
UBR7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • epilepsy
  • hypothyroidism
  • congenital anomalies
  • dysmorphic features
Tags
Green List (high evidence)
UFM1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Leukodystrophy hypomyelinating 14, 617899
Tags
Green List (high evidence)
UFSP2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Poor weight gain
  • microcephaly
  • epilepsy
  • developmental delay
  • lack of speech
  • intellectual disability
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)
UGGT1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • congenital disorder of glycosylation, MONDO:0015286
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)
UNC13A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100620
Tags
  • Q1_26_MOI
Green List (high evidence)
UNC80
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801
Tags
Green List (high evidence)
USP18
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397
Tags
  • treatable
Green List (high evidence)
VAMP2
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802
Tags
  • new-gene-name
Green List (high evidence)
VPS11
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 12 (MIM 616683)
  • Leukodystrophy, hypomyelinating, 12
Tags
Green List (high evidence)
WARS2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Tags
Green List (high evidence)
WASF1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with absent language and variable seizures, 618707
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)
WDR45
7 reviews
5 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
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodegeneration with brain iron accumulation 5, 300894
Tags
Green List (high evidence)
WDR45B
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Tags
Green List (high evidence)
WDR47
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Green List (high evidence)
WDR73
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Galloway-Mowat syndrome 1, 251300
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)
WWOX
6 reviews
5 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 28, 616211
Tags
Green List (high evidence)
YIPF5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Tags
Green List (high evidence)
YWHAG
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 56 617665
Tags
Green List (high evidence)
ZBTB18
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 22, 612337
Tags
Green List (high evidence)
ZBTB47
3 reviews
3 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)
ZDHHC9
4 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • epilepsy
  • intellectual disability
  • Mental retardation, X-linked syndromic, Raymond type, OMIM:300799
Tags
Green List (high evidence)
ZEB2
6 reviews
5 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • UKGTN
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mowat-Wilson syndrome
Tags
Green List (high evidence)
ZNF142
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Seizures
  • Dystonia
  • Intellectual disability
  • Global developmental delay
  • Tremor
  • Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425
Tags
Green List (high evidence)
ZNF335
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 10, primary, autosomal recessive, 615095
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
Amber List (moderate evidence)
ABCA2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
Amber List (moderate evidence)
ABI2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Amber List (moderate evidence)
ADAM22
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • ?Epileptic encephalopathy, early infantile, 61 OMIM:617933
  • developmental and epileptic encephalopathy, 61 MONDO:0033370
Tags
  • watchlist
Amber List (moderate evidence)
ADAT3
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286
Tags
Amber List (moderate evidence)
ADD1
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Ventriculomegaly
  • Abnormality of the corpus callosum
Tags
  • watchlist
Amber List (moderate evidence)
ADGRL1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065
Tags
Amber List (moderate evidence)
AIMP2
6 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 17, OMIM:618006
  • eukodystrophy, hypomyelinating, 17, MONDO:0054817
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
AJAP1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
  • watchlist
Amber List (moderate evidence)
AMACR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Alpha-methylacyl-CoA racemase deficiency, OMIM:614307
Tags
  • Q1_26_expert_review
  • Q1_26_promote_green
Amber List (moderate evidence)
ASTN1
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
ATP2B1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 66, OMIM:619910
Tags
  • Q1_26_NHS_review
  • Q1_26_promote_green
Amber List (moderate evidence)
ATP5A1
5 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228
  • Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Tags
  • new-gene-name
  • watchlist
Amber List (moderate evidence)
ATP6AP2
3 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, X-linked, syndromic, Hedera type
Tags
  • watchlist
Amber List (moderate evidence)
BAIAP2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • developmental and epileptic encephalopathy, MONDO:0100620
  • classic lissencephaly, MONDO:0015146
Tags
  • Q4_25_NHS_review
  • Q4_25_promote_green
Amber List (moderate evidence)
BLOC1S1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • severe intellectual disability
  • severe global developmental delay
  • epilepsy
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)
BORCS8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987
Tags
  • watchlist
Amber List (moderate evidence)
BSN
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
  • Q4_25_NHS_review
  • Q4_25_promote_green
Amber List (moderate evidence)
CACNA1H
8 reviews
5 red 		Not set
Sources
  • Expert
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperaldosteronism, familial, type IV 617027
  • {Epilepsy, childhood absence, susceptibility to, 6} 611942
  • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
Tags
Amber List (moderate evidence)
CACNA2D1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Early onset developmental epilepsy
Tags
Amber List (moderate evidence)
CAMK2D
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
  • gene-checked
Amber List (moderate evidence)
CCDC88C
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Spinocerebellar ataxia 40 616053 AD
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Tags
  • watchlist
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)
CDC42BPB
3 reviews
 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)
CELF4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Amber List (moderate evidence)
CELSR3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
CLN6
6 reviews
4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
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)
COG4
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type IIj, OMIM:613489
Tags
Amber List (moderate evidence)
COG6
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Iil 614576
Tags
Amber List (moderate evidence)
COG8
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type IIh 611182
Tags
Amber List (moderate evidence)
COLGALT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Brain small vessel disease 3, OMIM:618360
Tags
  • watchlist
Amber List (moderate evidence)
COQ6
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650
Tags
Amber List (moderate evidence)
COX10
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Tags
Amber List (moderate evidence)
COX11
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275
  • Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Tags
Amber List (moderate evidence)
COX15
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
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)
CSNK1G1
8 reviews
6 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
  • gene-checked
Amber List (moderate evidence)
CTU2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • seizures
  • DREAM‐PL syndrome
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Tags
Amber List (moderate evidence)
CYP27A1
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
  • seizures
  • photosensitive epilepsy
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
  • watchlist
Amber List (moderate evidence)
DENND5B
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • DENND5B associated neurodevelopmental disorder
Tags
  • gene-checked
Amber List (moderate evidence)
DHCR24
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Desmosterolosis, 602398
Tags
  • watchlist
Amber List (moderate evidence)
DHCR7
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
Tags
Amber List (moderate evidence)
DHRSX
6 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type 1DD, OMIM:301133
Tags
  • gene-checked
  • Pseudoautosomal region 1
Amber List (moderate evidence)
DHX16
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733
Tags
  • watchlist
Amber List (moderate evidence)
DNAJC5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350
  • autosomal dominant Kufs disease
  • generalized tonic–clonic seizures
Tags
Amber List (moderate evidence)
DPM2
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Iu, OMIM:615042
Tags
Amber List (moderate evidence)
EFHC1
7 reviews
1 green 4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • Literature
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Wessex and West Midlands GLH
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 1} 607631
  • {Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770
Tags
Amber List (moderate evidence)
EIF2AK2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877
Tags
Amber List (moderate evidence)
EMX2
6 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Schizencephaly, OMIM:269160
Tags
Amber List (moderate evidence)
EXOC7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Brain atrophy
  • Seizures
  • Developmental delay
  • Microcephaly
Tags
  • watchlist
Amber List (moderate evidence)
FAM50A
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
  • Mental retardation syndrome, X-linked, Armfield type, OMIM:300261
  • Armfield syndrome, MONDO:0010284
Tags
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)
FH
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Fumarase deficiency, OMIM:606812
Tags
Amber List (moderate evidence)
FKRP
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
  • seizures
  • Walker-warburg syndrome or muscle-eye-brain disease
  • Muscular dystrophy, congenital, 1c
Tags
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)
GABRA3
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
GCH1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • seizures
Tags
Amber List (moderate evidence)
GFM1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 1 609060
Tags
Amber List (moderate evidence)
GLI3
4 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Greig cephalopolysyndactyly syndrome, OMIM:175700
  • Pallister-Hall syndrome, OMIM:146510
Tags
Amber List (moderate evidence)
GLRA1
8 reviews
4 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
  • Hyperekplexia
  • developmental delay
  • infantile spasms and generalized tonic-clonic seizures
Tags
Amber List (moderate evidence)
GLYCTK
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • D-glyceric aciduria 220120
Tags
Amber List (moderate evidence)
GSS
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Glutathione synthetase deficiency 266130
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
Tags
Amber List (moderate evidence)
GTPBP3
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 23, 616198
Tags
  • watchlist
Amber List (moderate evidence)
GUF1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epileptic encephalopathy, early infantile, 40, 617065
Tags
Amber List (moderate evidence)
HCCS
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
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, 309801
Tags
  • watchlist
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)
HLCS
8 reviews
1 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Holocarboxylase synthetase deficiency, 253270
Tags
Amber List (moderate evidence)
HOXA1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome, 601536
  • Bosley-Salih-Alorainy syndrome, 601536
Tags
  • watchlist
Amber List (moderate evidence)
HPRT1
4 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Lesch-Nyhan syndrome, OMIM:300322
Tags
Amber List (moderate evidence)
HSPD1
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leukodystrophy, hypomyelinating, 4, OMIM:612233
Tags
  • watchlist
Amber List (moderate evidence)
ISPD
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
  • Walker-Warburg syndrome
Tags
  • new-gene-name
  • watchlist
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)
KATNB1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534
Tags
  • watchlist
Amber List (moderate evidence)
KCNB2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
  • gene-checked
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)
KIF1BP
8 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome 609460
Tags
  • new-gene-name
Amber List (moderate evidence)
LARGE1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840
Tags
  • watchlist
Amber List (moderate evidence)
LIPT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lipoyltransferase 1 deficiency 616299
Tags
Amber List (moderate evidence)
LIPT2
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668
Tags
  • watchlist
Amber List (moderate evidence)
LMAN2L
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • Epilepsy
Tags
Amber List (moderate evidence)
LMNB1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microcephaly 26, primary, autosomal dominant, OMIM:619179
Tags
  • watchlist
Amber List (moderate evidence)
LYST
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Chediak-Higashi syndrome 214500
Tags
Amber List (moderate evidence)
MANBA
4 reviews
 Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Amber List (moderate evidence)
MAST1
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
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
Tags
  • watchlist
Amber List (moderate evidence)
MED17
5 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668
Tags
  • watchlist
Amber List (moderate evidence)
MTR
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
  • methionine synthase deficiency type cblG
  • seizures
Tags
Amber List (moderate evidence)
NCDN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • epilepsy
Tags
Amber List (moderate evidence)
NDP
4 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Amber List (moderate evidence)
NDUFA2
5 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Amber List (moderate evidence)
NDUFAF3
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber List (moderate evidence)
NDUFAF4
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 15, 618237
Tags
  • watchlist
Amber List (moderate evidence)
NDUFS1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Tags
Amber List (moderate evidence)
NDUFS2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber List (moderate evidence)
NDUFS6
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber List (moderate evidence)
NDUFS7
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 3, 618224
Tags
  • watchlist
Amber List (moderate evidence)
NECAP1
9 reviews
1 green 5 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 21, 615833
  • Early onset epileptic encephalopathy (EOEE)
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)
NSF
4 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 96, OMIM:619340
Tags
Amber List (moderate evidence)
NUBPL
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber List (moderate evidence)
OTX2
3 reviews
 Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Amber List (moderate evidence)
PAK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Knobloch 2 syndrome, OMIM:618458
Tags
  • 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)
PDSS2
4 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Amber List (moderate evidence)
PEX1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) 214100
  • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
  • Adrenoleukodystrophy
Tags
Amber List (moderate evidence)
PEX10
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
Tags
Amber List (moderate evidence)
PEX12
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) 614859
Tags
Amber List (moderate evidence)
PEX13
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) 614883
Tags
Amber List (moderate evidence)
PEX19
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Tags
Amber List (moderate evidence)
PEX2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) 614866
Tags
Amber List (moderate evidence)
PEX3
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Amber List (moderate evidence)
PEX5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
  • Peroxisome biogenesis disorder 2B 202370
  • Rhizomelic chondrodysplasia punctata, type 5 616716
Tags
  • watchlist
Amber List (moderate evidence)
PEX6
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
  • Peroxisome biogenesis disorder 4B 614863
Tags
Amber List (moderate evidence)
PEX7
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 1 215100
Tags
Amber List (moderate evidence)
PIGS
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 18 618143
Tags
  • watchlist
Amber List (moderate evidence)
POLG2
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528
  • Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Tags
Amber List (moderate evidence)
POMT2
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Tags
Amber List (moderate evidence)
PPP2R1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Houge-Janssens syndrome 2, OMIM:616362
  • Houge-Janssens syndrome 2, MONDO:0014605
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
PRICKLE1
10 reviews
1 green 4 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Amber
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, progressive myoclonic 1B, OMIM:612437
Tags
  • disputed
Amber List (moderate evidence)
PRMT9
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)
PRODH
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperprolinemia, type I, OMIM:239500
  • hyperprolinemia type 1, MONDO:0009400
Tags
Amber List (moderate evidence)
PSAT1
4 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Amber List (moderate evidence)
PSPH
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Phosphoserine phosphatase deficiency 614023
Tags
  • watchlist
Amber List (moderate evidence)
PTF1A
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pancreatic and cerebellar agenesis, 609069
Tags
  • watchlist
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)
QDPR
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630
  • DHPR deficiency
Tags
Amber List (moderate evidence)
RAB11A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Global developmental delay, HP:0001263
  • Intellectual disability, HP:0001249
  • seizures
Tags
  • gene-checked
Amber List (moderate evidence)
RAB3GAP1
4 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Amber List (moderate evidence)
RAB3GAP2
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Martsolf syndrome 1, OMIM:212720
  • Warburg micro syndrome 2, OMIM:614225
Tags
Amber List (moderate evidence)
RANBP2
6 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033
Tags
Amber List (moderate evidence)
RNF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • epilepsy
  • intellectual disability
  • intrauterine growth retardation
Tags
Amber List (moderate evidence)
RNU4ATAC
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Tags
  • locus-type-rna-small-nuclear
Amber List (moderate evidence)
RPIA
4 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ribose 5-phosphate isomerase deficiency, OMIM:608611
Tags
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)
RRM2B
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
  • seizures
  • status epilepticus
Tags
Amber List (moderate evidence)
RUSC2
4 reviews
1 red 		Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal recessive 61 617773
Tags
Amber List (moderate evidence)
RYR2
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
Tags
Amber List (moderate evidence)
RYR3
9 reviews
1 green 5 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • idiopathic(non-lesional) partial epilepsy/susceptibility of seizures
Tags
Amber List (moderate evidence)
SAMD12
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Epilepsy, familial adult myoclonic, 1, OMIM:601068
  • epilepsy, familial adult myoclonic, 1, MONDO:0010985
Tags
  • STR
Amber List (moderate evidence)
SCO1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
Tags
Amber List (moderate evidence)
SCO2
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Tags
Amber List (moderate evidence)
SDHA
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Leigh syndrome 256000
  • Mitochondrial respiratory chain complex II deficiency 252011
Tags
Amber List (moderate evidence)
SIX3
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Holoprosencephaly 2 157170
  • Schizencephaly 269160
Tags
Amber List (moderate evidence)
SLC31A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
  • Epilepsy, MONDO:0005027
Tags
Amber List (moderate evidence)
SLC35A1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type IIf, 603585
  • seizures
Tags
Amber List (moderate evidence)
SLC35A3
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Tags
  • watchlist
Amber List (moderate evidence)
SLC45A1
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual developmental disorder with neuropsychiatric features 617532
Tags
  • watchlist
Amber List (moderate evidence)
SNF8
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
Amber List (moderate evidence)
SNX27
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Seizures
Tags
  • gene-checked
  • watchlist
Amber List (moderate evidence)
SPR
5 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Tags
Amber List (moderate evidence)
SPTBN4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Tags
Amber List (moderate evidence)
STARD7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Epilepsy, familial adult myoclonic, 2, OMIM:607876
  • epilepsy, familial adult myoclonic, 2, MONDO:0011930
Tags
  • STR
Amber List (moderate evidence)
SUCLG1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Tags
  • watchlist
Amber List (moderate evidence)
SYNCRIP
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Myoclonic atonic seizures
  • Abnormality of nervous system morphology
Tags
  • gene-checked
Amber List (moderate evidence)
TANC2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906
Tags
  • Q1_26_promote_green
Amber List (moderate evidence)
TBC1D20
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Warburg micro syndrome 4, 615663
  • seizures
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)
TEFM
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 58, OMIM:620451
Tags
Amber List (moderate evidence)
TELO2
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • You-Hoover-Fong syndrome 616954
Tags
Amber List (moderate evidence)
TET3
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Beck-Fahrner syndrome OMIM:618798
Tags
  • watchlist
Amber List (moderate evidence)
TMEM106B
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 16, OMIM:617964
  • Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Tags
  • missense
Amber List (moderate evidence)
TMEM70
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
  • seizures
Tags
Amber List (moderate evidence)
TNK2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • severe autosomal recessive infantile onset epilepsy
  • EE
Tags
  • watchlist
Amber List (moderate evidence)
TRAF7
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay, 618164
  • Global developmental delay
  • Abnormal heart morphology
  • Abnormality of digit
  • Abnormality of limbs
Tags
  • watchlist
Amber List (moderate evidence)
TRAPPC6B
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862
Tags
Amber List (moderate evidence)
TRIP13
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, 617598
Tags
  • watchlist
Amber List (moderate evidence)
TRRAP
5 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly
  • Seizures
  • Abnormal heart morphology
  • Autism
  • Developmental delay with or without dysmorphic facies and autism, 618454
  • Intellectual disability
  • Abnormality of the urinary system
  • Global developmental delay
Tags
Amber List (moderate evidence)
TSEN15
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Pontocerebellar hypoplasia, type 2F, OMIM:617026
Tags
Amber List (moderate evidence)
TSEN2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Pontocerebellar hypoplasia type 2B, 612389
Tags
Amber List (moderate evidence)
TSEN34
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • ?Pontocerebellar hypoplasia type 2C, 612390
Tags
  • watchlist
Amber List (moderate evidence)
TSFM
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
  • seizures
Tags
  • watchlist
Amber List (moderate evidence)
TUBA8
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 8, 613180
  • seizures
Tags
  • watchlist
Amber List (moderate evidence)
TUBB
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
Tags
  • watchlist
Amber List (moderate evidence)
TXNRD1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • genetic generalized epilepsy
Tags
Amber List (moderate evidence)
UFC1
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth, 618076
Tags
Amber List (moderate evidence)
USP7
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hao-Fountain syndrome, 616863
Tags
Amber List (moderate evidence)
VLDLR
4 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Tags
  • watchlist
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)
WDR62
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
Tags
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)
XK
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 Amber
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
  • McLeod neuroacanthocytosis syndrome, MONDO:0018945
Tags
Amber List (moderate evidence)
YIF1B
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Kaya-Barakat-Masson syndrome, OMIM:619125
Tags
  • gene-checked
Amber List (moderate evidence)
ZMIZ1
4 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • 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
  • Seizures
Tags
Amber List (moderate evidence)
ZMYM2
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522
Tags
Red List (low evidence)
AARS2
4 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
ADGRV1
4 reviews
 Not set
Sources
  • Expert Review Red
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
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
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cortical myoclonus and epilepsy
Tags
Red List (low evidence)
AGMO
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • microcephaly
  • intellectual disability
  • epilepsy
  • generalized tonic-clonic seizures
Tags
Red List (low evidence)
AKT1
5 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Proteus syndrome, somatic 176920
Tags
  • mosaicism
  • somatic
Red List (low evidence)
ALG12
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
Tags
Red List (low evidence)
ALG2
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • ?Congenital disorder of glycosylation type Ii, 607906
  • Myasthenic syndrome congenital 14 with tubular aggregates, 616228
Tags
Red List (low evidence)
BCORL1
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual disability and seizures
  • Shukla-Vernon syndrome, 301029
Tags
Red List (low evidence)
BET1
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Epilepsy, MONDO:0005027
Tags
Red List (low evidence)
CACNB4
11 reviews
8 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Wessex and West Midlands GLH
Phenotypes
  • {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682
  • {Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682
  • Episodic ataxia, type 5 OMIM:613855
  • Intellectual disability
Tags
  • refuted
Red List (low evidence)
CAMK2G
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Early infantile epileptic encephalopathy
Tags
Red List (low evidence)
CAMLG
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIz, OMIM:620201
Tags
Red List (low evidence)
CASR
2 reviews
1 red 		Not set
Sources
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of}
Tags
Red List (low evidence)
CBL
9 reviews
4 red 		Not set
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
CCDC186
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Epileptic encephalopathy
Tags
  • watchlist
Red List (low evidence)
CCND2
4 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
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)
CHRM1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental delay
  • intellectual disability, MONDO:0001071
  • autism
Tags
Red List (low evidence)
CLCN2
4 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Wessex and West Midlands GLH
Phenotypes
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628
  • {Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628
Tags
Red List (low evidence)
CLCN6
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
CLN5
6 reviews
4 red 		Not set
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
CPA6
10 reviews
2 green 3 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, familial temporal lobe, 5 614417 AR, AD
  • Febrile seizures, familial, 11 614418
Tags
  • refuted
Red List (low evidence)
CRH
6 reviews
5 red 		Not set
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
CSNK2A1
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Okur-Chung neurodevelopmental syndrome, OMIM:617062
Tags
Red List (low evidence)
DMBX1
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • global developmental delay, intellectual disability, and epilepsy
Tags
Red List (low evidence)
EIF2A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Intellectual disability
  • Seizures
  • ASD
Tags
Red List (low evidence)
FIG4
4 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
FTL
3 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Wessex and West Midlands GLH
Phenotypes
  • L-ferritin deficiency, dominant and recessive 615604
Tags
Red List (low evidence)
FUT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy
Tags
Red List (low evidence)
GAL
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, familial temporal lobe, 8 616461
Tags
Red List (low evidence)
GATAD2B
8 reviews
5 red 		Not set
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
GATM
8 reviews
6 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebral creatine deficiency syndrome 3, OMIM:612718
Tags
Red List (low evidence)
GLRB
7 reviews
5 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 2, 614619
Tags
Red List (low evidence)
GNB2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Tags
  • somatic
Red List (low evidence)
IDH2
5 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • D-2-hydroxyglutaric aciduria 2, 613657
Tags
Red List (low evidence)
INO80
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual disability, epilepsy and primary microcephaly
Tags
Red List (low evidence)
KCNH8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Familial Progressive Myoclonus Epilepsy
Tags
Red List (low evidence)
KMT5B
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mental retardation, autosomal dominant 51, 617788
Tags
Red List (low evidence)
LMNB2
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, progressive myoclonic, 9, OMIM:616540
Tags
Red List (low evidence)
MAGI2
12 reviews
6 green 4 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Nephrotic syndrome, type 15 617609
  • Infantile Spasms
Tags
  • cnv
  • refuted
Red List (low evidence)
MAPK10
9 reviews
4 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic Encephalopathy
  • EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
Tags
Red List (low evidence)
MATN4
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus
Tags
Red List (low evidence)
MCM3AP
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124
Tags
Red List (low evidence)
MT-CO3
1 review
 MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • seizures
Tags
Red List (low evidence)
MT-TL1
6 reviews
5 red 		MITOCHONDRIAL
Sources
  • Expert Review Red
  • NHS GMS
  • UKGTN
  • Wessex and West Midlands GLH
Tags
  • locus-type-rna-transfer
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)
NDUFA11
3 reviews
 Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Red List (low evidence)
NID1
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hydrocephalus, focal epilepsy and hemiparesis
Tags
Red List (low evidence)
NRAS
4 reviews
1 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
PCDHB4
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual disability, microcephaly and epilepsy
Tags
Red List (low evidence)
PCLO
5 reviews
3 red 		Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
PIK3CA
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Tags
  • mosaicism
  • somatic
Red List (low evidence)
PRDM8
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Epilepsy, progressive myoclonic, 10, 616640
Tags
Red List (low evidence)
PRICKLE2
6 reviews
4 red 		Not set
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
PSMB8
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Tags
Red List (low evidence)
PTCH1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Holoprosencephaly 7, OMIM:610828
Tags
Red List (low evidence)
RALGAPB
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorders, autism
Tags
Red List (low evidence)
RNU12
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208
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)
RTEL1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Familial Progressive Myoclonus Epilepsy
Tags
Red List (low evidence)
RUBCN
4 reviews
3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705
Tags
Red List (low evidence)
SAMD12_TTTCA
STR
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Epilepsy, familial adult myoclonic, 1, OMIM:601068
  • epilepsy, familial adult myoclonic, 1, MONDO:0010985
Tags
  • NGS Not Validated
  • STR
Red List (low evidence)
SCN2B
6 reviews
5 red 		Not set
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
SCN9A
11 reviews
7 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • North West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 7 613863
  • Febrile seizures, familial, 3B 613863
  • {Dravet syndrome, modifier of} 607208
Tags
Red List (low evidence)
SEC24D
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Intellectual disability and epilepsy
Tags
Red List (low evidence)
SEC31A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651
Tags
  • watchlist
Red List (low evidence)
SHH
4 reviews
 Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Wessex and West Midlands GLH
Tags
Red List (low evidence)
SLC25A19
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly, Amish type, 607196
  • Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Tags
Red List (low evidence)
SLC5A6
4 reviews
1 green 3 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973
Tags
Red List (low evidence)
SLC6A19
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
  • Literature
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Wessex and West Midlands GLH
Phenotypes
  • Hartnup disorder, 234500
Tags
Red List (low evidence)
SLC6A5
8 reviews
4 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Red List (low evidence)
SLC7A6OS
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Epilepsy, progressive myoclonic, 12 OMIM:619191
Tags
  • founder-effect
Red List (low evidence)
SRPX2
8 reviews
6 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643
Tags
Red List (low evidence)
STARD7_ATTTC
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Epilepsy, familial adult myoclonic, 2, OMIM:607876
  • epilepsy, familial adult myoclonic, 2, MONDO:0011930
Tags
  • NGS Not Validated
  • STR
Red List (low evidence)
STIL
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly 7, primary, 612703
Tags
Red List (low evidence)
TGIF1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Holoprosencephaly 4, 142946
Tags
Red List (low evidence)
TUBA3E
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Global developmental delay, primary microcephaly, lissencephaly, epilepsy
Tags
Red List (low evidence)
TXN2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 29, 616811
  • infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy
Tags
Red List (low evidence)
UNC13B
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • partial epilepsy, MONDO:0005384
Tags
Red List (low evidence)
ZIC2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Holoprosencephaly 5, 609637
Tags
No list
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Removed
  • NHS GMS
Phenotypes
  • microcephaly
  • 105832
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
Tags
  • curated_removed
No list
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss
Region
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Removed
Phenotypes
  • Learning difficulties
  • immune deficiency
  • renal anomalies
  • cleft palate, polydactyly
  • 22q11.2 deletion syndrome
  • diaphragmatic hernia
  • 192430
  • polyhydramnios
  • DiGeorge syndrome
  • Velocardiofacial syndrome
  • 188400
  • facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay
  • congenital heart disease
Tags
  • curated_removed
No list
PROSC
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent 617290
Tags
  • curated_removed
  • new-gene-name

Major version comments

  • 2025-04-30 16:20 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.

    2024-10-30 12:25 Eleanor Williams (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.

    2024-08-07 16:25 Eleanor Williams (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.

    2024-05-01 12:29 Achchuthan Shanmugasundram (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.

    2023-03-22 14:56 Arina Puzriakova (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.

    2022-11-30 15:38 Catherine Snow (Genomics England) promoted panel to 3.0
    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 (3.0)

    2019-12-10 11:59 Rebecca Foulger (Genomics England curator) promoted panel to 2.0
    The content of this panel (version 1.497) was signed off under NHS Genomic Medicine Service governance on (10/December/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

    2018-12-11 17:14 Sarah Leigh (Genomics England Curator) promoted panel to 1.0
    11th December 2018
    After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.

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  • Green and Amber Genes
  • Amber Genes
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