The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Early onset or syndromic epilepsy (Version 4.196)

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders

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: v4.0 (22 Mar 2023)
Previously signed off versions: 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.

Panel Activity

57 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
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
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 (NHS)

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

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rachel Challis (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Natalie Trump (Congenica)

Group: Other
Workplace: Industry
Julia Baptista (Faculty of Health, University of Plymouth)

Group: Other
Workplace: Other
Jana Jezkova (All Wales Medical Genomics Service)

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

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

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

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

Group: Other
Workplace: Research lab
Annalisa Vetro (Genetica Medica AO Ospedali Riuniti Villa Sofia - Cervello)

Group: Other
Workplace: NHS diagnostic lab

847 Entities

847 reviewed, 575 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 847 Entitiess
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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, adult 146300 AD, AR Hypophosphatasia, childhood 241510 AR Hypophosphatasia, infantile 241500 AR Odontohypophosphatasia 146300 AD, AR Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	C2orf69	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 53, OMIM:619423 Tags gene-checked
Green Green List (high evidence)	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 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 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 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 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 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 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 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 Green List (high evidence)	CACNB4	10 reviews 7 red	BOTH monoallelic and 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, idiopathic generalized, susceptibility to, 9} OMIM:607682 {Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682 Episodic ataxia, type 5 OMIM:613855 Intellectual disability Tags Q4_23_demote_red Q4_23_expert_review refuted
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	CHRNA2	9 reviews 5 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 Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	CPLX1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 63, OMIM:617976 developmental and epileptic encephalopathy, 63, MONDO:0033372 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	DHDDS	3 reviews 1 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	DPH5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 Tags
Green Green List (high evidence)	DPM1	3 reviews 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 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 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 Green List (high evidence)	DTYMK	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Microcephaly Seizures Global brain atrophy Cardiorespiratory arrest Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green 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 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 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 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 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 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 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 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 Green List (high evidence)	FBXO28	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Developmental and epileptic encephalopathy 100, OMIM:619777 developmental and epileptic encephalopathy 100, MONDO:0030695 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 Green List (high evidence)	FRMD5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 Tags
Green Green List (high evidence)	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 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 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 Green List (high evidence)	GABBR2	7 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 EPILEPTIC ENCEPHALOPATHY Rett syndrome Epileptic encephalopathy, early infantile, 59, 617904 Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	GLUL	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Phenotypes Glutamine deficiency, congenital, 610015 seizures Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	HCN2	6 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 Genetic epilepsy with febrile seizures plus Other seizure disorders Tags
Green 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 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 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 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 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 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 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 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 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 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 Epileptic encephalopathy Epileptic encephalopathy, early infantile, 54, 617391 Tags
Green Green List (high evidence)	HPDL	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 Tags gene-checked
Green Green List (high evidence)	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 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 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 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 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 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
Green 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 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 Green List (high evidence)	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 Green NHS GMS Phenotypes microcephaly 105832 Developmental delay, muscle weakness Mental retardation Angelman syndrome 176270 Prader-Willi syndrome Tags
Green 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 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 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 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 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 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 Green List (high evidence)	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 Green 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
Green 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 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 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 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 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 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 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 Green List (high evidence)	16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46297-Loss Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	Xq28 region (includes MECP2) Gain ISCA-46304-Gain Region	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources ClinGen Expert Review Green Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	KCNT2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes epilepsy ?Epileptic encephalopathy, early infantile, 57 Tags
Green 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 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 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 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 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 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 Green List (high evidence)	KLHL20	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder Tags gene-checked
Green Green List (high evidence)	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 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 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 Green List (high evidence)	LARS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Infantile liver failure syndrome 1, MIM# 615438 Tags new-gene-name
Green Green List (high evidence)	LGI1	9 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 600512 Tags
Green 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	MED11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 Tags
Green Green List (high evidence)	MED12	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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	MTHFS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags
Green Green List (high evidence)	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 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 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 Green List (high evidence)	NAPB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Developmental and epileptic encephalopathy 107, OMIM:620033 Tags
Green Green List (high evidence)	NARS	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091 Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 Tags new-gene-name
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	NSRP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes NSRP1-associated developmental delay, epilepsy and microcephaly Tags
Green Green List (high evidence)	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 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 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 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 Green List (high evidence)	OGDHL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 Tags
Green Green List (high evidence)	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 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 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 gene-checked
Green Green List (high evidence)	OXR1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000 Tags
Green Green List (high evidence)	P4HTM	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Mental retardation, autosomal recessive 53 616917 Tags
Green 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 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 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 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 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 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 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 Green List (high evidence)	PIGU	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 Tags missense
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	PPFIBP1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 Tags
Green Green List (high evidence)	PPIL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly Tags
Green Green List (high evidence)	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 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 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 Green List (high evidence)	PRICKLE1	9 reviews 1 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, progressive myoclonic 1B, OMIM:612437 Tags disputed Q1_24_demote_amber Q1_24_expert_review
Green 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 Green List (high evidence)	PRPF8	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes PRPF8-related developmental disorder (monoallelic) Retinitis pigmentosa 13, OMIM:600059 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	RELN	3 reviews 1 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 {Epilepsy, familial temporal lobe, 7}, OMIM:616436 Tags missense
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	SCAMP5	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of nervous system morphology Behavioral abnormality Tags gene-checked
Green Green List (high evidence)	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 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 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 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 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 Green List (high evidence)	SCN8A	11 reviews 7 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 for-review to_be_confirmed_NHSE
Green 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 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 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 Green List (high evidence)	SETBP1	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 Schinzel-Giedion midface retraction syndrome 269150 Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Green List (high evidence)	SLC38A3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Other Phenotypes Developmental and epileptic encephalopathy 102, 619881 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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
Green 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 Green List (high evidence)	SPATA5L1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 Tags gene-checked new-gene-name
Green Green List (high evidence)	SPTAN1	6 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 and epileptic encephalopathy, 5, MONDO:0013277 Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 Mental retardation, autosomal dominant 5 Tags
Green 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 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 Green List (high evidence)	TAF8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 Green List (high evidence)	TIAM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodevelopmental disorder with language delay and seizures, OMIM:619908 Tags
Green Green List (high evidence)	TIMM50	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 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 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 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 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 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 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 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 Green List (high evidence)	TRAPPC4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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, 618737 Tags gene-checked
Green 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 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 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 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 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 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 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 Green List (high evidence)	UGDH	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 84 - MIM #618792 Tags
Green Green List (high evidence)	UGP2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 83, OMIM:618744 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 Green List (high evidence)	WDR37	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Global developmental delay Intellectual disability Seizures Abnormality of the eye Abnormality of nervous system morphology Hearing abnormality Abnormality of the cardiovascular system Abnormality of the skeletal system Abnormality of the genitourinary system Neurooculocardiogenitourinary syndrome, OMIM:618652 Tags gene-checked missense
Green Green List (high evidence)	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 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 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 Green List (high evidence)	WNK3	4 reviews 1 green 3 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Prieto syndrome, OMIM:309610 Intellectual disability, MONDO:0001071 Tags
Green Green List (high evidence)	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 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 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 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 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 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 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 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
Amber 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 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 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 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 Amber List (moderate evidence)	AGO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	AIMP2	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Wessex and West Midlands GLH Phenotypes Epileptic Encephalopathy Infantile Spasms Leukodystrophy, hypomyelinating, 17, 618006 neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis Tags watchlist
Amber Amber List (moderate evidence)	ANK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	ARF3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Intellectual disability, MONDO:0001071 Seizures Morphological abnormality of the central nervous system microcephaly, MONDO:0001149 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ASL	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Literature Phenotypes Argininosuccinic aciduria, OMIM:207900 argininosuccinic aciduria, MONDO:0008815 seizure, HP:0001250 Tags Q4_23_NHS_review Q4_23_promote_green
Amber Amber List (moderate evidence)	ATP2B1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 66, 619910 Tags watchlist
Amber 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 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 Amber List (moderate evidence)	ATP6V0C	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	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 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 Amber List (moderate evidence)	CACNA2D1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Early onset developmental epilepsy Tags
Amber Amber List (moderate evidence)	CAMSAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	CCDC88A	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Phenotypes ?PEHO syndrome-like 617507 Tags watchlist
Amber 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 Amber List (moderate evidence)	CDC42BPB	2 reviews	Unknown	Sources Expert Review Amber Literature Phenotypes CDC42BPB-related Neurodevelopmental Disorder Central hypotonia Global developmental delay Intellectual disability Seizures Autistic behavior Behavioral abnormality Tags
Amber Amber List (moderate evidence)	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 Amber List (moderate evidence)	CNOT9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes epilepsy, MONDO:0005027 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	COG3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IIbb, OMIM:620546 Tags
Amber Amber List (moderate evidence)	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 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 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 Amber List (moderate evidence)	COL4A3BP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 34, OMIM:616351 Tags new-gene-name Q1_24_promote_green
Amber 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 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 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 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 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 Amber List (moderate evidence)	CPSF3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 Tags
Amber Amber List (moderate evidence)	CRELD1	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome, OMIM:606217 {Atrioventricular septal defect, susceptibility to, 2}, OMIM:606217 atrioventricular septal defect, susceptibility to, 2, MONDO:0011650 Tags Q3_23_promote_green
Amber 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 Amber List (moderate evidence)	CTSF	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 Tags
Amber 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 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 Amber List (moderate evidence)	DALRD3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Developmental and epileptic encephalopathy 86, # 618910 Tags
Amber Amber List (moderate evidence)	DENND5B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes DENND5B associated neurodevelopmental disorder Tags
Amber 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 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 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 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 Amber List (moderate evidence)	DNAJC6	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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 Q3_23_promote_green
Amber 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 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 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 Amber List (moderate evidence)	EIF4A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	EMX2	5 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, 269160 Tags
Amber Amber List (moderate evidence)	ESAM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 Tags Q3_23_promote_green
Amber 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 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 Amber List (moderate evidence)	FDFT1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Squalene synthase deficiency, 618156 Tags watchlist
Amber Amber List (moderate evidence)	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 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 Amber List (moderate evidence)	FUK	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber 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
Amber 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 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 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 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 Amber List (moderate evidence)	GLS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 71, OMIM:618328 Tags
Amber 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 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 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 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 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 Amber List (moderate evidence)	HEATR5B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes pontocerebellar hypoplasia, MONDO:0020135 intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber Amber List (moderate evidence)	HECTD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 Tags gene-checked Q4_23_promote_green
Amber 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 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 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 Amber List (moderate evidence)	HSD17B10	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 HSD10 mitochondrial disease, OMIM:300438 Tags Q1_24_promote_green
Amber 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 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 Amber List (moderate evidence)	JAKMIP1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability, MONDO:0001071 seizures Tags watchlist
Amber Amber List (moderate evidence)	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 Amber List (moderate evidence)	KCNA1	8 reviews 2 green 5 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber NHS GMS North West GLH Wessex and West Midlands GLH Phenotypes Episodic ataxia/ myokymia syndrome, OMIM:160120 epilepsy, MONDO:0005027 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	KCNA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q1_24_NHS_review Q1_24_promote_green
Amber Amber List (moderate evidence)	KCNH5	6 reviews 2 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Developmental and epileptic encephalopathy 112, OMIM:620537 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	KDM6B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber 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 Q3_23_promote_green
Amber 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 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 Amber List (moderate evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	LIPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lipoyltransferase 1 deficiency 616299 Tags
Amber 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 Amber List (moderate evidence)	LMAN2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Intellectual disability Epilepsy Tags
Amber 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 Amber List (moderate evidence)	LNPK	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Wessex and West Midlands GLH Phenotypes Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090 Tags
Amber Amber List (moderate evidence)	LSS	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature NHS GMS Wessex and West Midlands GLH Phenotypes Alopecia Abnormality of the skin Microcephaly Cataract 44, 616509, Hypotrichosis 14, 618275 Seizures Abnormality of the genital system Hypotonia Intellectual disability Global developmental delay Tags
Amber 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 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 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 Amber List (moderate evidence)	MAST4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, MAST4-related Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Amber List (moderate evidence)	PABPC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Global developmental delay Expressive language delay Intellectual disability Behavioral abnormality Seizures Tags Q3_23_MOI Q3_23_promote_green
Amber Amber List (moderate evidence)	PARP6	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual disability Epilepsy Microcephaly Tags watchlist
Amber Amber List (moderate evidence)	PDSS2	4 reviews 1 red	Not set	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Tags
Amber 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 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 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 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 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 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 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 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 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 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 Amber List (moderate evidence)	PIGM	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Glycosylphosphatidylinositol deficiency, OMIM:610293 Tags non-coding-known-pathogenic promoter Q4_23_promote_green
Amber 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 Amber List (moderate evidence)	PIP5K1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	PLA2G6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature 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 Q4_23_promote_green watchlist_moi
Amber 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 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 Amber List (moderate evidence)	PPP1R3F	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 epilepsy, MONDO:0005027 Tags Q3_23_promote_green
Amber 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 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 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 Amber List (moderate evidence)	PTCD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 combined oxidative phosphorylation deficiency 51, MONDO:0033631 Tags Q4_23_promote_green
Amber 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 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 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 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 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 Amber List (moderate evidence)	RAB5C	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, RAB5C-related Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	RANBP2	5 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} 608033 Tags
Amber 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 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
Amber 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 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 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 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 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 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 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 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 Amber List (moderate evidence)	SHQ1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Dystonia 35, childhood-onset, OMIM:619921 dystonia 35, childhood-onset, MONDO:0030958 Neurodevelopmental disorder with dystonia and seizures, OMIM:619922 neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	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 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 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 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, mental retardation, and seizures (MIM 615553) Early onset epileptic encephalopathy with skeletal defects Tags watchlist
Amber 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 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 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 Amber List (moderate evidence)	SPR	4 reviews 1 green	BOTH monoallelic and 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 612716 Tags
Amber 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 MIM#617519 Tags
Amber 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, 607876 Familial adult myoclonic epilepsy-2 FAME-2 Tags STR
Amber 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 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 Amber List (moderate evidence)	TANC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder with autistic features and language delay, with or without seizures, 618906 Tags
Amber 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 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 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 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 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 Amber List (moderate evidence)	TMEM63B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes developmental and epileptic encephalopathy, MONDO:0100062 Tags Q3_23_promote_green
Amber Amber List (moderate evidence)	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 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 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 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 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 Amber List (moderate evidence)	TRIT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873 combined oxidative phosphorylation deficiency 35, MONDO:0054742 Tags Q4_23_promote_green
Amber 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 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 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 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 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 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 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 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 Amber List (moderate evidence)	U2AF2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 intellectual disability, MONDO:0001071 Tags Q3_23_promote_green
Amber 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 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 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 Amber List (moderate evidence)	VPS50	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neonatal cholestatic liver disease Failure to thrive Profound global developmental delay Postnatal microcephaly Seizures Abnormality of the corpus callosum Tags watchlist
Amber Amber List (moderate evidence)	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 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 Amber List (moderate evidence)	YIF1B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Central hypotonia Failure to thrive Microcephaly Global developmental delay Intellectual disability Seizures Spasticity Abnormality of movement Tags
Amber Amber List (moderate evidence)	ZBTB47	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	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 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
Amber Amber List (moderate evidence)	ZNFX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 91 and hyperinflammation, OMIM:619644 immunodeficiency 91 and hyperinflammation, MONDO:0030491 Tags Q1_24_NHS_review Q1_24_promote_green
Red Red List (low evidence)	AARS2	4 reviews 1 red	Not set	Sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Tags
Red 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 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 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 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 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 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 Red List (low evidence)	ASTN1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Intellectual disability epilepsy cortical malformations Tags
Red 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 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 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 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 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 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 Red List (low evidence)	CCDC186	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epileptic encephalopathy Tags watchlist
Red 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 Red List (low evidence)	CHMP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Complex spastic quadriplegia associated with developmental delay and seizures Tags
Red Red List (low evidence)	CHRM1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental delay intellectual disability, MONDO:0001071 autism Tags
Red 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 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 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 Red List (low evidence)	CNTN2	2 reviews	Not set	Sources NHS GMS Radboud University Medical Center, Nijmegen Wessex and West Midlands GLH Phenotypes Epilepsy, familial adult myoclonic, 5 Tags
Red 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 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 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 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 Red List (low evidence)	EIF2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Intellectual disability Seizures ASD Tags
Red 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Red List (low evidence)	MT-CO3	1 review	MITOCHONDRIAL	Sources Expert Review Red Literature Phenotypes seizures Tags
Red Red List (low evidence)	MT-TL1	6 reviews 5 red	MITOCHONDRIAL	Sources Expert Review Red NHS GMS UKGTN Wessex and West Midlands GLH Tags
Red Red List (low evidence)	MYO1H	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 Tags
Red Red List (low evidence)	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 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 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 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 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 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 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 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 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 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 Red List (low evidence)	RALGAPB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Neurodevelopmental disorders, autism Tags
Red 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 Red List (low evidence)	RYR3	8 reviews 5 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Epileptic encephalopathy Tags
Red 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 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 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 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 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 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 Red List (low evidence)	SLC5A6	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 Tags
Red 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 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 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 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 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 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 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 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 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 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 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

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.

Early onset or syndromic epilepsy (Version 4.196)

57 reviewers

847 Entities

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