Description
This panel is a component of super panel 'Epilepsy - early onset or syndromic'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

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.

22 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

  • Donavan Cheng (Illumina)

    Group: Other biotech or pharmaceutical
    Workplace: Industry

  • Andrea Haworth (ACGS, Congenica)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • 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: Genomics England

  • 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

  • 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

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

591 Entities

575 reviewed, 404 green

List Entity Reviews Mode of inheritance Details
591 Entitiess
Green Green List (high evidence)
AARS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 29 616339
Tags
Green Green List (high evidence)
ADSL
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenylosuccinase deficiency
Tags
Green Green List (high evidence)
ALDH7A1
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, pyridoxine-dependent 266100
Tags
  • treatable
Green Green List (high evidence)
ALG11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ip
Tags
Green Green List (high evidence)
ALG13
5 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Is
  • Infantile spasms and LGS
Tags
Green Green List (high evidence)
ARHGEF9
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 8 300607
Tags
Green Green List (high evidence)
ARX
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
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)
ATN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR
Green Green List (high evidence)
ATP1A3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
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)
ATP6V0A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA 219200
  • Wrinkly skin syndrome 278250
Tags
Green Green List (high evidence)
ATRX
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome
  • Mental retardation-hypotonic facies syndrome, X-linked
Tags
Green Green List (high evidence)
BRAT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Tags
Green Green List (high evidence)
BSCL2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Encephalopathy, progressive, with or without lipodystrophy 615924
  • Lipodystrophy, congenital generalized, type 2 269700
  • Neuropathy, distal hereditary motor, type VA 600794
  • Silver spastic paraplegia syndrome 270685
Tags
Green Green List (high evidence)
CACNA1D
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD
  • Sinoatrial node dysfunction and deafness 614896 AR
Tags
Green Green List (high evidence)
CDKL5
5 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Angelman syndrome-like
  • Epileptic encephalopathy, early infantile, 2
Tags
Green Green List (high evidence)
CHD2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, childhood-onset 615369
Tags
Green Green List (high evidence)
CHRNA2
7 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, nocturnal frontal lobe, type 4
Tags
Green Green List (high evidence)
CHRNA4
7 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1 600513
Tags
Green Green List (high evidence)
CHRNB2
8 reviews
4 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3 605375
Tags
Green Green List (high evidence)
CIC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 45 617600
Tags
Green Green List (high evidence)
CLN8
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Tags
Green Green List (high evidence)
CLTC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Mental retardation, autosomal dominant 56, 617854
  • Autosomal dominant non-syndromic intellectual disability
  • Epilepsy and intellectual disability
Tags
Green Green List (high evidence)
CNKSR2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked, syndromic, Houge type 301008
Tags
Green Green List (high evidence)
CNTNAP2
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome
  • Pitt-Hopkins like syndrome 1
Tags
Green Green List (high evidence)
CPA6
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial temporal lobe, 5 614417 AR, AD
  • Febrile seizures, familial, 11 614418
Tags
Green Green List (high evidence)
CYFIP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Tags
Green Green List (high evidence)
DEPDC5
6 reviews
2 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, familial focal, with variable foci 1 604364
Tags
Green Green List (high evidence)
DIAPH1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Seizures, cortical blindness, microcephaly syndrome, MIM:616632
Tags
Green Green List (high evidence)
DNM1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DOCK7
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
  • EIEE23
Tags
Green Green List (high evidence)
DPYD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 5-fluorouracil toxicity 274270
  • Dihydropyrimidine dehydrogenase deficiency 274270
Tags
Green Green List (high evidence)
DYRK1A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Tags
Green Green List (high evidence)
EHMT1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Kleefstra syndrome
Tags
Green Green List (high evidence)
EML1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, 600348
Tags
Green Green List (high evidence)
EPG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
EPM2A
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green Green List (high evidence)
FOXG1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Rett syndrome, congenital variant
Tags
Green Green List (high evidence)
GABBR2
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Rett syndrome
Tags
Green Green List (high evidence)
GABRA1
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • {Epilepsy, childhood absence, susceptibility to, 4} 611136
  • {Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136
Tags
Green Green List (high evidence)
GABRB3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
  • EPILEPTIC ENCEPHALOPATHIES
Tags
Green Green List (high evidence)
GABRG2
8 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 3 611277
  • Febrile seizures, familial, 8 611277
  • {Epilepsy, childhood absence, susceptibility to, 2} 607681
Tags
Green Green List (high evidence)
GLYCTK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • D-glyceric aciduria 220120
Tags
Green Green List (high evidence)
GNAO1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Epileptic encephalopathy, early infantile, 17
Tags
Green Green List (high evidence)
GPAA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GRIN1
6 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820
  • NDHMSR
  • Mental retardation, autosomal dominant 8
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254
  • NDHMSD
  • early onset epileptic encephalopathies
  • involuntary movements
  • severe developmental delay
  • intellectual disability
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GRIN2A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
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
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 6
  • Epileptic encephalopathy, early infantile, 27
  • EPILEPTIC ENCEPHALOPATHY
  • AUTISM
Tags
Green Green List (high evidence)
GSS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Glutathione synthetase deficiency 266130
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
Tags
Green Green List (high evidence)
HCN1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 24
Tags
Green Green List (high evidence)
HECW2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268
Tags
Green Green List (high evidence)
HMGCL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • HMG-CoA lyase deficiency, 246450
  • 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
  • HMGCLD
Tags
Green Green List (high evidence)
HNRNPH2
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 Green
  • Other
Phenotypes
  • Mental retardation, X-linked, syndromic, Bain type, 300986
  • MRXSB
Tags
Green Green List (high evidence)
HNRNPU
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy
  • Epileptic encephalopathy, early infantile, 54, 617391
Tags
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type VIII
Tags
Green Green List (high evidence)
IDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • D-2-hydroxyglutaric aciduria 2
Tags
Green Green List (high evidence)
IER3IP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
Tags
Green Green List (high evidence)
IQSEC2
5 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 1
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems
  • 612001
  • PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms
  • PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia
Tags
Green Green List (high evidence)
16p13.11 recurrent region (includes MYH11) Loss
ISCA-37415-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects
Tags
Green Green List (high evidence)
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.
  • mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly)
  • congenital heart disease
  • 8p23.1 duplication syndrome
Tags
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Tags
Green Green List (high evidence)
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay
  • growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment
  • Chromosome 17p13.3 duplication syndrome
  • prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw
  • Characteristic facies, pre- and post-natal growth retardation
  • 247200
  • classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities
  • Miller-Dieker lissencephaly syndrome
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia
  • Speech and language delay
  • Seizures (not all)
  • Chromosome 17q12 duplication syndrome
  • 614526
  • Behavioural difficulties
Tags
Green Green List (high evidence)
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • posteriorly rotated, low-set, abnormal ears
  • brachycephaly
  • epicanthus
  • heart defects
  • pointed chin
  • deep-set eyes
  • microcephaly
  • hypotonia
  • seizures
  • poor/absent speech
  • central nervous system anomalies
  • large anterior fontanels
  • microbrachycephaly
  • mental retardation
  • growth impairment
  • large, late-closing anterior fontanel
  • flat nose
  • nasal bridge
  • developmental delay
  • hearing impairment
  • distinct dysmorphic features
  • 1p36 deletion syndrome
  • 607872
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105830
Tags
Green Green List (high evidence)
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • microcephaly
  • seizures
  • agenesis of the corpus callosum
  • intellectual disability
  • hand and foot anomalies
  • 612337
  • non-specific craniofacial anomalies
  • hypoplasia
  • psychomotor retardation
  • hypogenesis of the corpus callosum
Tags
Green Green List (high evidence)
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain
Region
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep
  • 300801
Tags
Green Green List (high evidence)
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • seizures
  • 20236110
  • mental retardation
  • 22775350
  • dysmorphic features
  • developmental delay
  • severe epileptic encephalopathy
Tags
Green Green List (high evidence)
ITPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, 616647
Tags
Green Green List (high evidence)
KCNA2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 32
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
KCNB1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 26
Tags
Green Green List (high evidence)
KCNC1
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 7 616187
Tags
Green Green List (high evidence)
KCNJ10
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)
  • SESAME syndrome
Tags
Green Green List (high evidence)
KCNQ2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1)
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7)
  • Epileptic encephalopathy, early infantile, 7
  • Myokymia
  • Seizures, benign neonatal, 1
Tags
Green Green List (high evidence)
KCNQ3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Seizures, benign neonatal, type 2
Tags
Green Green List (high evidence)
KCNT1
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
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)
KCTD7
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726
Tags
Green Green List (high evidence)
KIF1BP
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome 609460
Tags
Green Green List (high evidence)
LGI1
7 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
Phenotypes
  • Epilepsy, familial temporal lobe, 1 600512
Tags
Green Green List (high evidence)
MBD5
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 1
Tags
Green Green List (high evidence)
MBOAT7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 57 617188
Tags
Green Green List (high evidence)
MDH2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 51
Tags
Green Green List (high evidence)
MECP2
5 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
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)
MEF2C
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
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
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Tags
Green Green List (high evidence)
MOGS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIb, 606056
Tags
Green Green List (high evidence)
MTOR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Focal cortical dysplasia, type II, somatic
Tags
Green Green List (high evidence)
NACC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393
Tags
Green Green List (high evidence)
NEXMIF
6 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 98
Tags
Green Green List (high evidence)
PCDH19
6 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 9
Tags
Green Green List (high evidence)
PIGA
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2
Tags
Green Green List (high evidence)
PIGN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080
Tags
Green Green List (high evidence)
PIGT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3
Tags
Green Green List (high evidence)
PLCB1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Recessive
  • Epileptic encephalopathy, early infantile, 12
Tags
Green Green List (high evidence)
PLPBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, 617290
Tags
Green Green List (high evidence)
PNKP
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Early infantile epileptic encephalopathy type 10
  • Ataxia-oculomotor apraxia 4
  • Microcephaly, seizures, and developmental delay
Tags
Green Green List (high evidence)
PNPO
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • treatable
Green Green List (high evidence)
POLG
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
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)
PRODH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hyperprolinemia, type I 239500
Tags
Green Green List (high evidence)
PRRT2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
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)
PURA
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 31
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
QARS
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Tags
Green Green List (high evidence)
RANBP2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
Tags
Green Green List (high evidence)
SCARB2
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Tags
Green Green List (high evidence)
SCN1A
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
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
7 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 1 604233 AD
  • Epileptic encephalopathy, early infantile, 52 617350 AR
Tags
Green Green List (high evidence)
SCN2A
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 11 613721
  • Seizures, benign familial infantile, 3 607745
Tags
Green Green List (high evidence)
SCN8A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia
  • Intellectual disability
  • Epileptic encephalopathy, early infantile, 13
Tags
Green Green List (high evidence)
SCN9A
7 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 7 613863
  • Febrile seizures, familial, 3B 613863
  • {Dravet syndrome, modifier of} 607208
Tags
Green Green List (high evidence)
SETD5
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 23
Tags
Green Green List (high evidence)
SIK1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
  • Epileptic encephalopathy, early infantile, 30
Tags
Green Green List (high evidence)
SLC12A5
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • epilepsy of infancy with migrating focal seizures (EIMFS)
Tags
Green Green List (high evidence)
SLC13A5
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 25
Tags
Green Green List (high evidence)
SLC16A2
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Allan-Herndon-Dudley syndrome
Tags
Green Green List (high evidence)
SLC1A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 41, 617105
Tags
Green Green List (high evidence)
SLC25A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria
Tags
Green Green List (high evidence)
SLC25A22
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 3
Tags
Green Green List (high evidence)
SLC2A1
7 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • UKGTN
  • Victorian Clinical Genetics Services
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
Green Green List (high evidence)
SLC35A2
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
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy)
  • Epileptic encephalopathy, early infantile, 22 (EIEE22)
  • early-onset epileptic encephalopathy
Tags
Green Green List (high evidence)
SLC6A1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC6A19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Tags
Green Green List (high evidence)
SLC9A6
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type
Tags
Green Green List (high evidence)
SPTAN1
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 5
Tags
Green Green List (high evidence)
STRADA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087
Tags
Green Green List (high evidence)
STX1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STXBP1
5 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 4
Tags
Green Green List (high evidence)
SUOX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Sulfite oxidase deficiency
Tags
Green Green List (high evidence)
SYNGAP1
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 5
Tags
Green Green List (high evidence)
SYNJ1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 53, 617389
Tags
Green Green List (high evidence)
SZT2
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 18,
Tags
Green Green List (high evidence)
TBC1D24
6 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • DOORS syndrome 220500
  • Epileptic encephalopathy, early infantile, 16 615338
  • Myoclonic epilepsy, infantile, familial 605021
Tags
Green Green List (high evidence)
TCF4
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Pitt-Hopkins syndrome 610954
Tags
Green Green List (high evidence)
TPP1
6 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2 204500
Tags
Green Green List (high evidence)
TRAK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Fatal encephalopathy
Tags
Green Green List (high evidence)
TRPM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypomagnesemia 1, intestinal 602014
Tags
Green Green List (high evidence)
UBE2A
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type
Tags
Green Green List (high evidence)
UBE3A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Angelman syndrome
Tags
Green Green List (high evidence)
WDR45
5 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR45B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations
Tags
Green Green List (high evidence)
WWOX
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ZEB2
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Mowat-Wilson syndrome
Tags
Green Green List (high evidence)
ABAT
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • GABA-transaminase deficiency 613163
Tags
Green Green List (high evidence)
ACOX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisomal acyl-CoA oxidase deficiency 264470
Tags
Green Green List (high evidence)
ACTL6B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Spasticity
  • epileptic encephalopathy
Tags
Green Green List (high evidence)
ADAR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 6 615010
Tags
Green Green List (high evidence)
ADGRG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, 606854
Tags
Green Green List (high evidence)
ADPRHL2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability, cerebellar atrophy, ataxia and epilepsy
Tags
Green Green List (high evidence)
AIMP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating 3 260600
Tags
Green Green List (high evidence)
AKT1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteus syndrome, somatic 176920
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
AKT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937
Tags
Green Green List (high evidence)
ALDH5A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency 271980
Tags
Green Green List (high evidence)
ALG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ik 608540
Tags
Green Green List (high evidence)
ALG3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Id 601110
Tags
Green Green List (high evidence)
ALG6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ic 603147
Tags
Green Green List (high evidence)
ALG8
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ih 608104
Tags
Green Green List (high evidence)
ALG9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation type Il 608776
Tags
Green Green List (high evidence)
ALPL
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia, adult 146300 AD, AR
  • Hypophosphatasia, childhood 241510 AR
  • Hypophosphatasia, infantile 241500 AR
  • Odontohypophosphatasia 146300 AD, AR
Tags
  • drug-indication
Green Green List (high evidence)
AMPD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 9 615809
Tags
Green Green List (high evidence)
AMT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycine encephalopathy 605899
Tags
Green Green List (high evidence)
AP3B2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 48 617276
Tags
Green Green List (high evidence)
ARFGEF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular heterotopia with microcephaly 608097
Tags
Green Green List (high evidence)
ARG1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Argininemia 207800
Tags
Green Green List (high evidence)
ARID1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 1, 135900
Tags
Green Green List (high evidence)
ARV1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 38 617020
Tags
  • watchlist
Green Green List (high evidence)
ASPA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Canavan disease 271900
Tags
Green Green List (high evidence)
ATP1A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Hypomagnesemia
  • Seizures
  • Intellectual disability
Tags
Green Green List (high evidence)
ATP1A2
8 reviews
2 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
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)
ATP6V1A
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 3 618012
  • Cutis laxa, autosomal recessive, type IID 617403
Tags
Green Green List (high evidence)
ATP7A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Menkes disease 309400
Tags
Green Green List (high evidence)
BCKDHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ia 248600
Tags
Green Green List (high evidence)
BCKDHB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type Ib 248600
Tags
Green Green List (high evidence)
BCS1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 1 124000
  • Leigh syndrome 256000
  • GRACILE syndrome 603358
Tags
Green Green List (high evidence)
BOLA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
Tags
Green Green List (high evidence)
BRAF
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 115150
  • Noonan syndrome 7 613706
  • LEOPARD syndrome 3 613707
Tags
Green Green List (high evidence)
BTD
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Biotinidase deficiency 253260
Tags
Green Green List (high evidence)
C12orf57
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Temtamy syndrome 218340
Tags
Green Green List (high evidence)
CACNA1A
7 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 42, 617106
  • Epilepsy and migraine
  • Absence epilepsy
  • Migraine, familial hemiplegic, 1, 141500
  • Familial hemiplegic migraine 1 (FHM)
Tags
Green Green List (high evidence)
CACNA1E
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Dystonia
  • Congenital contracture
  • Macrocephaly
Tags
Green Green List (high evidence)
CACNA1G
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 42 616795
Tags
  • missense
Green Green List (high evidence)
CAD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 50 - MIM 616457
Tags
Green Green List (high evidence)
CASK
6 reviews
1 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
  • Victorian Clinical Genetics Services
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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 9 612285
Tags
Green Green List (high evidence)
CLCN4
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Raynaud-Claes syndrome 300114
  • Mental retardation, X-linked 49/15
Tags
Green Green List (high evidence)
CLN3
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 204200
Tags
Green Green List (high evidence)
CNNM2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation 616418
Tags
Green Green List (high evidence)
COG7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIe, 608779
Tags
Green Green List (high evidence)
COL18A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Knobloch syndrome, type 1 267750
Tags
Green Green List (high evidence)
COL4A1
6 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
6 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Porencephaly 2 614483
Tags
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1 607426
Tags
Green Green List (high evidence)
COQ4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 7 616276
Tags
Green Green List (high evidence)
COQ9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5, 614654
Tags
Green Green List (high evidence)
CREBBP
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Rubinstein-Taybi syndrome 1 180849
Tags
Green Green List (high evidence)
CSTB
7 reviews
2 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Tags
  • nucleotide-repeat-expansion
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
  • STR
Green Green List (high evidence)
CTNNA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, 618174, seizures
Tags
Green Green List (high evidence)
CTSD
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, 610127
Tags
Green Green List (high evidence)
D2HGDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
DCX
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly, X-linked 300067
  • Subcortical laminal heterotopia, X-linked 300067
Tags
Green Green List (high evidence)
DDX3X
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 102, 300958
Tags
Green Green List (high evidence)
DEAF1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Dyskinesia, seizures, and intellectual developmental disorder 617171
Tags
Green Green List (high evidence)
DENND5A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, 617281
Tags
Green Green List (high evidence)
DHCR7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
DHDDS
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay and seizures with or without movement abnormalities, 617836
  • developmental and epileptic encephalopathy (DEE)
  • ?Congenital disorder of glycosylation, type 1bb,613861
Tags
Green Green List (high evidence)
DHX30
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with severe motor impairment and absent language 617804
Tags
Green Green List (high evidence)
DNM1L
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388
  • refractory epilepsy
  • refractory focal status epilepticus
Tags
Green Green List (high evidence)
DPAGT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093
Tags
Green Green List (high evidence)
DPM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ie, 608799
Tags
Green Green List (high evidence)
DYNC1H1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
EARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 33 616409
Tags
Green Green List (high evidence)
EFTUD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
Tags
Green Green List (high evidence)
EIF2B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter 603896
  • Ovarioleukodystrophy 603896
Tags
Green Green List (high evidence)
EIF2S3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MEHMO syndrome, 300148
Tags
Green Green List (high evidence)
EIF3F
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Seizures
  • Behavioral abnormality
  • Sensorineural hearing impairment
Tags
Green Green List (high evidence)
EMX2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schizencephaly, 269160
Tags
Green Green List (high evidence)
ETHE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ethylmalonic encephalopathy, 602473
Tags
Green Green List (high evidence)
EXOSC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, 614678
Tags
Green Green List (high evidence)
FAR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder 616154
Tags
Green Green List (high evidence)
FARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 14, 614946
Tags
Green Green List (high evidence)
FBXL4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471
  • Seizures
Tags
Green Green List (high evidence)
FBXO11
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089
Tags
Green Green List (high evidence)
FGF12
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 47, 617166
Tags
Green Green List (high evidence)
FGFR3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypochondroplasia, 146000
  • Focal Epilepsy
  • Muenke syndrome, 602849
  • Epilepsy
Tags
Green Green List (high evidence)
FH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fumarase deficiency, 606812
  • Seizures
Tags
Green Green List (high evidence)
FKTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Heterotopia, periventricular 300049
Tags
Green Green List (high evidence)
FOLR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • seizures
Tags
Green Green List (high evidence)
FRRS1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile 37, 616981
Tags
Green Green List (high evidence)
FUCA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fucosidosis, 230000
  • seizures
Tags
Green Green List (high evidence)
FUT8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation with defective fucosylation, 618005
  • Intellectual disability
Tags
Green Green List (high evidence)
GABRB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 2, 617829
Tags
Green Green List (high evidence)
GALC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Krabbe disease, 245200
  • seizures
  • CALC deficiency
  • Galactosylceramide beta-galactosidase deficiency
Tags
Green Green List (high evidence)
GAMT
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral creatine deficiency syndrome 2, 612736
  • Seizures
  • Deficiency of guanidinoacetate methyltransferase
  • GAMT deficiency
Tags
Green Green List (high evidence)
GBA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gaucher disease, perinatal lethal, 608013
  • Gaucher disease, type II, 230900
  • Gaucher disease, type III, 231000
  • Gaucher disease, type IIIC, 231005
  • seizures
Tags
Green Green List (high evidence)
GCH1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, B, 233910
  • seizures
Tags
Green Green List (high evidence)
GFAP
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alexander disease, 203450
  • seizures
Tags
Green Green List (high evidence)
GFM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 1 609060
Tags
Green Green List (high evidence)
GLB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM1-gangliosidosis, type II, 230600
  • seizures
Tags
Green Green List (high evidence)
GLDC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycine encephalopathy, 605899
  • seizures
Tags
Green Green List (high evidence)
GLUD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperinsulinism-hyperammonemia syndrome, 606762
  • epilepsy
Tags
Green Green List (high evidence)
GLUL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glutamine deficiency, congenital, 610015
  • seizures
Tags
Green Green List (high evidence)
GM2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM2-gangliosidosis, AB variant, 272750
  • seizures
  • Hexosaminidase activator deficiency
  • Tay-Sachs disease
Tags
Green Green List (high evidence)
GNAQ
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, 185300
Tags
Green Green List (high evidence)
GNB1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 42, 616973
  • seizures
Tags
Green Green List (high evidence)
GNB5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with cardiac arrhythmia, 617173
  • Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182
Tags
Green Green List (high evidence)
GOSR2
6 reviews
2 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
  • founder-effect
Green Green List (high evidence)
GPHN
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency C, 615501
Tags
Green Green List (high evidence)
GRIA4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864
Tags
Green Green List (high evidence)
GRIN2D
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 46 617162
Tags
Green Green List (high evidence)
GTPBP2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Jaberi-Elahi syndrome 617988
  • Global developmental delay
  • Intellectual disability
  • Seizures
Tags
Green Green List (high evidence)
HACE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures 616756
Tags
Green Green List (high evidence)
HAX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Green Green List (high evidence)
HCFC1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
Tags
Green Green List (high evidence)
HCN2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Genetic epilepsy with febrile seizures plus
  • Other seizure disorders
Tags
Green Green List (high evidence)
HEPACAM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925
Tags
Green Green List (high evidence)
HEXA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HLCS
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HRAS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Costello syndrome, 218040
  • Schimmelpenning-Feuerstein-Mims syndrome, 218040
Tags
Green Green List (high evidence)
HSD17B4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • D-bifunctional protein deficiency, 261515
Tags
Green Green List (high evidence)
IFIH1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 7, 615846
  • seizures
Tags
Green Green List (high evidence)
IKBKG
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Incontinentia pigmenti, 308300
Tags
Green Green List (high evidence)
IRF2BPL
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 618088
Tags
Green Green List (high evidence)
KARS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Charcot-Marie-Tooth disease, recessive intermediate, B - 613641
  • Deafness, autosomal recessive 89 - 613916
Tags
Green Green List (high evidence)
KCNA1
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Episodic ataxia/myokymia syndrome 160120
Tags
Green Green List (high evidence)
KCNJ11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes, permanent neonatal, with or without neurologic features, 606176
  • DEND syndrome
Tags
Green Green List (high evidence)
KCNK4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental delay
  • Intellectual disability
  • Seizures
  • Gingival overgrowth
  • Hypertrichosis
Tags
Green Green List (high evidence)
KCNQ5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 46, 617601
Tags
  • watchlist
Green Green List (high evidence)
KCTD3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • No OMIM number
  • Epileptic encephalopathy
Tags
Green Green List (high evidence)
KIF1A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 9 614255
Tags
Green Green List (high evidence)
KIF2A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 3, 615411
Tags
Green Green List (high evidence)
KIF5C
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 2, 615282
Tags
Green Green List (high evidence)
KRAS
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 2, 615278
Tags
Green Green List (high evidence)
LIAS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperglycinemia, lactic acidosis, and seizures, 614462
Tags
Green Green List (high evidence)
LYST
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chediak-Higashi syndrome 214500
Tags
Green Green List (high evidence)
MACF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Seizures
  • Lissencephaly
  • Brainstem dysplasia
  • Lissencephaly 9 with complex brainstem malformation, 618325
Tags
Green Green List (high evidence)
MAF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ayme-Gripp syndrome 601088
Tags
Green Green List (high evidence)
MAGI2
7 reviews
4 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Nephrotic syndrome, type 15 617609
  • Infantile Spasms
Tags
  • cnv
Green Green List (high evidence)
MAP2K1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 3, 615279
Tags
Green Green List (high evidence)
MAP2K2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiofaciocutaneous syndrome 4, 615280
Tags
Green Green List (high evidence)
MED12
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lujan-Fryns syndrome, 309520
  • Opitz-Kaveggia syndrome, 305450
Tags
Green Green List (high evidence)
MFSD8
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7 610951
Tags
Green Green List (high evidence)
MLC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephalic leukoencephalopathy with subcortical cysts, 604004
  • generalized tonic-clonic seizures
  • focal seizures
Tags
Green Green List (high evidence)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MMADHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblD type, 277410
Tags
Green Green List (high evidence)
MOCS1
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency A 252150
Tags
Green Green List (high evidence)
MOCS2
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Molybdenum cofactor deficiency B 252160
Tags
Green Green List (high evidence)
MPDU1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type If, 609180
  • seizures
Tags
Green Green List (high evidence)
MTHFR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Homocystinuria due to MTHFR deficiency, 236250
  • seizures
Tags
Green Green List (high evidence)
MTR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
  • methionine synthase deficiency type cblG
  • seizures
Tags
Green Green List (high evidence)
NAGA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schindler disease, type I, 609241
  • seizures
Tags
Green Green List (high evidence)
NARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 24, 616239
  • seizures
Tags
Green Green List (high evidence)
NBEA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • No OMIM number
Tags
Green Green List (high evidence)
NDE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 4 (with microcephaly), 614019
Tags
Green Green List (high evidence)
NDUFA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Green Green List (high evidence)
NDUFA10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leigh syndrome, 256000
Tags
Green Green List (high evidence)
NDUFAF2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, 252010
Tags
Green Green List (high evidence)
NDUFAF5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex 1 deficiency 252010
Tags
Green Green List (high evidence)
NDUFS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leigh syndrome 256000
  • Mitochondrial complex I deficiency 252010
Tags
Green Green List (high evidence)
NDUFS8
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NDUFV1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Green Green List (high evidence)
NGLY1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of deglycosylation 615273
Tags
Green Green List (high evidence)
NHLRC1
6 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
Green Green List (high evidence)
NPRL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, familial focal, with variable foci 3, 617118
Tags
Green Green List (high evidence)
NRXN1
6 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • UKGTN
  • Victorian Clinical Genetics Services
Phenotypes
  • Pitt-Hopkins-like syndrome 2, 614325
Tags
Green Green List (high evidence)
NSD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sotos syndrome 1, 117550
Tags
Green Green List (high evidence)
NSDHL
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CK syndrome 300831
Tags
Green Green List (high evidence)
NTRK2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 58 (MIM 617830)
  • Obesity, hyperphagia, and developmental delay (MIM 613886)
Tags
Green Green List (high evidence)
OCLN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudo-TORCH syndrome 1 251290
Tags
Green Green List (high evidence)
OPHN1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486
  • MENTAL RETARDATION X-LINKED OPHN1-RELATED
Tags
Green Green List (high evidence)
OTUD6B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452
Tags
Green Green List (high evidence)
PACS1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Schuurs-Hoeijmakers syndrome, 615009
Tags
Green Green List (high evidence)
PACS2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 66, 618067
Tags
Green Green List (high evidence)
PAFAH1B1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 1 607432
Tags
Green Green List (high evidence)
PAH
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Phenylketonuria 261600
Tags
Green Green List (high evidence)
PCCA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PCCB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Propionicacidemia 606054
Tags
Green Green List (high evidence)
PCDH12
4 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Microcephaly, seizures, spasticity, and brain calcification 251280
Tags
Green Green List (high evidence)
PDHA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lacticacidemia due to PDX1 deficiency 245349
Tags
Green Green List (high evidence)
PET100
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • seizures
Tags
  • founder-effect
Green Green List (high evidence)
PEX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger) 214100
  • Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
  • Adrenoleukodystrophy
Tags
Green Green List (high evidence)
PEX10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 6A (Zellweger) 614870
Tags
Green Green List (high evidence)
PEX12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 3A (Zellweger) 614859
Tags
Green Green List (high evidence)
PEX13
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 11A (Zellweger) 614883
Tags
Green Green List (high evidence)
PEX19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger) 614886
Tags
Green Green List (high evidence)
PEX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 5A (Zellweger) 614866
Tags
Green Green List (high evidence)
PEX3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 10A (Zellweger) 614882
Tags
Green Green List (high evidence)
PEX6
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisome biogenesis disorder 4A (Zellweger) 614862
  • Peroxisome biogenesis disorder 4B 614863
Tags
Green Green List (high evidence)
PEX7
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 1 215100
Tags
Green Green List (high evidence)
PHACTR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
Tags
Green Green List (high evidence)
PHGDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoglycerate dehydrogenase deficiency 601815
Tags
Green Green List (high evidence)
PIGG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 53 616917
Tags
Green Green List (high evidence)
PIGO
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 2, 614749
Tags
Green Green List (high evidence)
PIGW
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 11, 616025
  • HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
PIK3R2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387
Tags
Green Green List (high evidence)
PLAA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527
  • Lethal Infantile Epileptic Encephalopathy
Tags
Green Green List (high evidence)
PMM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
POMGNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
Tags
Green Green List (high evidence)
POMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Tags
Green Green List (high evidence)
PPP3CA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, infantile or early childhood, 1 617711
Tags
Green Green List (high evidence)
PPT1
7 reviews
1 green 4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1 256730
Tags
Green Green List (high evidence)
PRICKLE1
6 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 1B 612437
Tags
Green Green List (high evidence)
PRMT7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Short stature, brachydactyly, intellectual developmental disability, and seizures 617157
Tags
Green Green List (high evidence)
PSAP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined SAP deficiency 611721
Tags
Green Green List (high evidence)
PTEN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cowden syndrome 1 158350
  • Lhermitte-Duclos syndrome
  • BANNAYAN-RILEY-RUVALCABA SYNDROME
Tags
Green Green List (high evidence)
PTPN23
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rare severe autosomal-recessive developmental and epileptic encephalopathy
Tags
Green Green List (high evidence)
PTS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, A, 261640
Tags
Green Green List (high evidence)
QDPR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, C, 261630
Tags
Green Green List (high evidence)
RAB11B
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807
Tags
Green Green List (high evidence)
RAB18
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 3, 614222
Tags
Green Green List (high evidence)
RALA
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 nervous system morphology
Tags
Green Green List (high evidence)
RARS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 6, 611523
Tags
Green Green List (high evidence)
RELN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {Epilepsy, familial temporal lobe, 7} 616436
Tags
  • missense
Green Green List (high evidence)
RFT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type In, 612015
Tags
Green Green List (high evidence)
RHOBTB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 64 618004
Tags
Green Green List (high evidence)
RMND1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, 614922
Tags
Green Green List (high evidence)
RNASEH2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 4, 610333
Tags
Green Green List (high evidence)
RNASEH2B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 2, 610181
Tags
Green Green List (high evidence)
RNASEH2C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 3, 610329
Tags
Green Green List (high evidence)
RNASET2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy, cystic, without megalencephaly 612951
Tags
Green Green List (high evidence)
ROGDI
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kohlschutter-Tonz syndrome 226750
Tags
Green Green List (high evidence)
RORA
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060
Tags
Green Green List (high evidence)
RORB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • generalized epilepsies with predominant absence seizures
Tags
Green Green List (high evidence)
RTN4IP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Tags
Green Green List (high evidence)
RTTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, short stature, and polymicrogyria with seizures 614833
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 5, 612952
  • seizures
Tags
Green Green List (high evidence)
SCN3A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, familial focal, with variable foci 4 617935
  • Epileptic encephalopathy, early infantile, 62 617938
Tags
Green Green List (high evidence)
SCO1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
SCO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377
Tags
Green Green List (high evidence)
SEPSECS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2D 613811
Tags
Green Green List (high evidence)
SETBP1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schinzel-Giedion midface retraction syndrome 269150
Tags
Green Green List (high evidence)
SLC1A4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Tags
Green Green List (high evidence)
SLC25A12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 39 612949
Tags
Green Green List (high evidence)
SLC35A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIf, 603585
  • seizures
Tags
Green Green List (high evidence)
SLC6A8
6 reviews
1 green 4 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebral creatine deficiency syndrome 1 300352
Tags
Green Green List (high evidence)
SMARCA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nicolaides-Baraitser syndrome 601358
Tags
Green Green List (high evidence)
SMARCC2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • neurodevelopmental delay and growth retardation
  • prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features
Tags
Green Green List (high evidence)
SMS
6 reviews
1 green 4 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, Snyder-Robinson type 309583
Tags
Green Green List (high evidence)
SNORD118
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy, brain calcifications, and cysts 614561
Tags
Green Green List (high evidence)
ST3GAL5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Salt and pepper developmental regression syndrome 609056
Tags
Green Green List (high evidence)
STAG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 47 617635
Tags
Green Green List (high evidence)
STAMBP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly-capillary malformation syndrome 614261
Tags
Green Green List (high evidence)
SUCLA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Tags
Green Green List (high evidence)
SURF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leigh syndrome, due to COX IV deficiency, 256000
Tags
Green Green List (high evidence)
SYN1
1 review
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
  • Expert list
Phenotypes
  • Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491
Tags
Green Green List (high evidence)
TANGO2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878
Tags
Green Green List (high evidence)
TBCD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193
  • seizures
  • West syndrome
Tags
Green Green List (high evidence)
TBCK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900
  • seizures
Tags
Green Green List (high evidence)
TBL1XR1
6 reviews
1 green 4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 41, 616944
  • Pierpont syndrome, 602342
Tags
Green Green List (high evidence)
TMEM70
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
  • seizures
Tags
Green Green List (high evidence)
TREX1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Early-onset epileptic encephalopathy (EOEE)
  • EE
  • Seizures
Tags
Green Green List (high evidence)
TSC1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-1 191100
Tags
  • mosaicism
Green Green List (high evidence)
TSC2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
  • Tuberous sclerosis-2 613254
Tags
Green Green List (high evidence)
TSEN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2B, 612389
Tags
Green Green List (high evidence)
TSEN54
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 4, 225753
  • Pontocerebellar hypoplasia type 2A, 277470
  • ?Pontocerebellar hypoplasia type 5, 610204
Tags
Green Green List (high evidence)
TUBA1A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lissencephaly 3, 611603
Tags
Green Green List (high evidence)
TUBB2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 5, 615763
  • infantile-onset epilepsy
Tags
Green Green List (high evidence)
TUBB2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 7, 610031
Tags
Green Green List (high evidence)
TUBB3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1, 614039
Tags
Green Green List (high evidence)
TUBB4A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
Tags
Green Green List (high evidence)
TUBG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 4, 615412
Tags
Green Green List (high evidence)
UBA5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132
Tags
Green Green List (high evidence)
UFM1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy hypomyelinating 14, 617899
Tags
Green Green List (high evidence)
UNC80
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801
Tags
Green Green List (high evidence)
VARS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802
Tags
Green Green List (high evidence)
WASF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ID associated with autistic features, seizures, and developmental delay
  • Intellectual disability
Tags
Green Green List (high evidence)
WDR62
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
Tags
Green Green List (high evidence)
WDR73
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
YWHAG
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 56 617665
Tags
Green Green List (high evidence)
ZBTB18
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 22, 612337
Tags
Amber Amber List (moderate evidence)
ADAT3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 36 615286
Tags
Amber Amber List (moderate evidence)
AIMP2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 17, 618006
  • neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Tags
Amber Amber List (moderate evidence)
ATP5A1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Combined oxidative phosphorylation deficiency 22 616045
  • ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228
Tags
  • new-gene-name
  • watchlist
Amber Amber List (moderate evidence)
ATP6AP2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked, syndromic, Hedera type
Tags
  • watchlist
Amber Amber List (moderate evidence)
CACNA1H
6 reviews
5 red
Not set
Sources
  • Expert
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
CACNA2D2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Absence epilepsy
Tags
  • watchlist
Amber Amber List (moderate evidence)
CCDC88A
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?PEHO syndrome-like 617507
Tags
  • watchlist
Amber Amber List (moderate evidence)
CCDC88C
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Spinocerebellar ataxia 40 616053 AD
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Tags
  • watchlist
Amber Amber List (moderate evidence)
CCND2
2 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
CNPY3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 60 617929
Tags
  • watchlist
Amber Amber List (moderate evidence)
COG4
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
COG6
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iil 614576
Tags
Amber Amber List (moderate evidence)
COG8
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIh 611182
Tags
Amber Amber List (moderate evidence)
COQ6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6, 614650
Tags
Amber Amber List (moderate evidence)
COX10
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
COX15
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 615119
  • Leigh syndrome 256000
Tags
Amber Amber List (moderate evidence)
CSNK2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Myoclonic epilepsy and intellectual disability
Tags
  • watchlist
Amber Amber List (moderate evidence)
CUX2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Seizures
  • Intellectual disability
  • Autistic behavior
  • Developmental epileptic encephalopathy
Tags
Amber Amber List (moderate evidence)
DBT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Maple syrup urine disease, type II, 248600
Tags
  • watchlist
Amber Amber List (moderate evidence)
DHCR24
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Desmosterolosis, 602398
Tags
  • watchlist
Amber Amber List (moderate evidence)
DNAJC6
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
DOLK
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Im, 610768
Tags
  • watchlist
Amber Amber List (moderate evidence)
DPM2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iu 615042
Tags
Amber Amber List (moderate evidence)
EFHC1
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
  • Literature
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 1} 607631
  • {Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770
Tags
Amber Amber List (moderate evidence)
EIF2B1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
  • watchlist
Amber Amber List (moderate evidence)
EIF2B3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
  • watchlist
Amber Amber List (moderate evidence)
FASTKD2
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
FKRP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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)
FOXRED1
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
GLI3
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
GLRA1
6 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Amber
Phenotypes
  • Hyperekplexia, hereditary 1, 149400
  • Hyperekplexia
  • developmental delay
  • infantile spasms and generalized tonic-clonic seizures
Tags
Amber Amber List (moderate evidence)
GTPBP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 23, 616198
Tags
  • watchlist
Amber Amber List (moderate evidence)
HCCS
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, 309801
Tags
  • watchlist
Amber Amber List (moderate evidence)
HEXB
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800
Tags
Amber Amber List (moderate evidence)
HOXA1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Athabaskan brainstem dysgenesis syndrome, 601536
  • Bosley-Salih-Alorainy syndrome, 601536
Tags
  • watchlist
Amber Amber List (moderate evidence)
HPRT1
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
HSPD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 4, 612233
Tags
  • watchlist
Amber Amber List (moderate evidence)
ISPD
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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)
KCNMA1
8 reviews
1 green 5 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Cerebellar atrophy, developmental delay, and seizures 617643 AR
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 609446 AD
Tags
Amber Amber List (moderate evidence)
KIAA1109
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Alkuraya-Kucinskas syndrome 617822
Tags
  • watchlist
Amber Amber List (moderate evidence)
KPTN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Mental retardation, autosomal recessive 41615637
Tags
  • watchlist
Amber Amber List (moderate evidence)
LARGE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
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)
LIPT2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668
Tags
  • watchlist
Amber Amber List (moderate evidence)
LNPK
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090
Tags
Amber Amber List (moderate evidence)
MANBA
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
MAST1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures
  • Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures
Tags
  • watchlist
Amber Amber List (moderate evidence)
MED17
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy 613668
Tags
Amber Amber List (moderate evidence)
NDP
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
NDUFA2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leigh syndrome due to mitochondrial complex I deficiency 256000
Tags
Amber Amber List (moderate evidence)
NDUFAF3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber Amber List (moderate evidence)
NDUFAF4
1 review
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
  • watchlist
Amber Amber List (moderate evidence)
NDUFS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency, 252010
  • LEIGH SYNDROME
  • MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Tags
Amber Amber List (moderate evidence)
NDUFS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber Amber List (moderate evidence)
NDUFS6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber Amber List (moderate evidence)
NDUFS7
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
  • watchlist
Amber Amber List (moderate evidence)
NECAP1
8 reviews
1 green 5 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 21, 615833
  • Early onset epileptic encephalopathy (EOEE)
Tags
Amber Amber List (moderate evidence)
NEDD4L
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Periventricular nodular heterotopia 7, 617201
Tags
Amber Amber List (moderate evidence)
NPRL2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Epilepsy, familial focal, with variable foci 2 617116
Tags
  • watchlist
Amber Amber List (moderate evidence)
NUBPL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Amber Amber List (moderate evidence)
NUS1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • #617082 - ?Congenital disorder of glycosylation, type 1aa
  • #617831 - Mental retardation, autosomal dominant 55, with seizures
  • Abnormality of extrapyramidal motor function
Tags
Amber Amber List (moderate evidence)
OTX2
1 review
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
PAK1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)
Tags
Amber Amber List (moderate evidence)
PCLO
2 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
PDSS2
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
PEX5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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)
PIGC
1 review
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
PIGH
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 17 618010
Tags
Amber Amber List (moderate evidence)
PIGQ
7 reviews
5 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Intractable seizures
  • developmental delay
  • optic atrophy
Tags
Amber Amber List (moderate evidence)
POMT2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Tags
Amber Amber List (moderate evidence)
PSAT1
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
PSPH
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoserine phosphatase deficiency 614023
Tags
  • watchlist
Amber Amber List (moderate evidence)
PTF1A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Pancreatic and cerebellar agenesis, 609069
Tags
  • watchlist
Amber Amber List (moderate evidence)
RAB3GAP1
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
RAB3GAP2
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
RNU4ATAC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type I 210710
Tags
Amber Amber List (moderate evidence)
RPIA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Ribose 5-phosphate isomerase deficiency 608611
Tags
Amber Amber List (moderate evidence)
RRM2B
1 review
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
RUSC2
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
RYR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 604772
Tags
Amber Amber List (moderate evidence)
SDHA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leigh syndrome 256000
  • Mitochondrial respiratory chain complex II deficiency 252011
Tags
Amber Amber List (moderate evidence)
SETD1B
2 reviews
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
SIX3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Holoprosencephaly 2 157170
  • Schizencephaly 269160
Tags
Amber Amber List (moderate evidence)
SLC35A3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?Arthrogryposis, mental retardation, and seizures (MIM 615553)
  • Early onset epileptic encephalopathy with skeletal defects
Tags
  • watchlist
Amber Amber List (moderate evidence)
SLC45A1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder with neuropsychiatric features 617532
Tags
  • watchlist
Amber Amber List (moderate evidence)
SMC1A
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 Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 2 300590
Tags
Amber Amber List (moderate evidence)
SNIP1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Psychomotor retardation, epilepsy, and craniofacial dysmorphism 614501
Tags
Amber Amber List (moderate evidence)
SPR
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716
Tags
Amber Amber List (moderate evidence)
SRPX2
5 reviews
4 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Amber
Phenotypes
  • ?Rolandic epilepsy, mental retardation, and speech dyspraxia 300643
Tags
Amber Amber List (moderate evidence)
ST3GAL3
5 reviews
5 red
Not set
Sources
  • Expert Review Amber
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 15
Tags
Amber Amber List (moderate evidence)
SUCLG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
Tags
  • watchlist
Amber Amber List (moderate evidence)
TBC1D20
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Warburg micro syndrome 4, 615663
  • seizures
Tags
  • watchlist
Amber Amber List (moderate evidence)
TELO2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • You-Hoover-Fong syndrome 616954
Tags
Amber Amber List (moderate evidence)
TFE3
1 review
1 red
Not set
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
TIMM50
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type IX, 617698
  • intellectual disability and seizure
  • epilepsy and developmental delay
Tags
  • watchlist
Amber Amber List (moderate evidence)
TNK2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • severe autosomal recessive infantile onset epilepsy
  • EE
Tags
  • watchlist
Amber Amber List (moderate evidence)
TRAF7
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay, 618164
  • Global developmental delay
  • Abnormal heart morphology
  • Abnormality of digit
  • Abnormality of limbs
Tags
Amber Amber List (moderate evidence)
TRAPPC12
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669
Tags
Amber Amber List (moderate evidence)
TRAPPC6B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862
Tags
Amber Amber List (moderate evidence)
TRIP13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mosaic variegated aneuploidy syndrome 3, 617598
Tags
  • watchlist
Amber Amber List (moderate evidence)
TSEN15
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pontocerebellar hypoplasia, type 2F, 617026
  • seizures
Tags
Amber Amber List (moderate evidence)
TSEN34
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Pontocerebellar hypoplasia type 2C, 612390
Tags
  • watchlist
Amber Amber List (moderate evidence)
TSFM
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3, 610505
  • seizures
Tags
  • watchlist
Amber Amber List (moderate evidence)
TUBA8
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 8, 613180
  • seizures
Tags
  • watchlist
Amber Amber List (moderate evidence)
TUBB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
Tags
  • watchlist
Amber Amber List (moderate evidence)
TXNRD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • genetic generalized epilepsy
Tags
Amber Amber List (moderate evidence)
UFC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with spasticity and poor growth, 618076
Tags
Amber Amber List (moderate evidence)
VLDLR
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Tags
  • watchlist
Red Red List (low evidence)
AARS2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
ADGRV1
2 reviews
Not set
Sources
  • Expert Review Red
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
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)
ALG12
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ig 607143
Tags
Red Red List (low evidence)
ALG2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
ASAH1
0 reviews
Not set
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Tags
Red Red List (low evidence)
CACNB4
5 reviews
5 red
Not set
Sources
  • Expert
  • Expert Review Red
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Tags
Red Red List (low evidence)
CAMK2G
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Early infantile epileptic encephalopathy
Tags
Red Red List (low evidence)
CASR
0 reviews
Not set
Sources
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Radboud University Medical Center, Nijmegen
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
7 reviews
4 red
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
CLCN2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Phenotypes
  • Leukoencephalopathy with ataxia, 615651
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Tags
Red Red List (low evidence)
CLN5
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CLN6
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
Red Red List (low evidence)
CNTN2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial adult myoclonic, 5
Tags
Red Red List (low evidence)
CRH
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CSNK1G1
6 reviews
5 red
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
CYP27A1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Cerebrotendinous xanthomatosis 213700
Tags
Red Red List (low evidence)
DMBX1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • global developmental delay, intellectual disability, and epilepsy
Tags
Red Red List (low evidence)
FIG4
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FTL
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • L-ferritin deficiency, dominant and recessive 615604
Tags
Red Red List (low evidence)
GABRD
6 reviews
5 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • {Epilepsy, idiopathic generalized, 10} 613060
  • {Epilepsy, juvenile myoclonic, susceptibility to} 613060
  • {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to} 613060
Tags
Red Red List (low evidence)
GAL
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Epilepsy, familial temporal lobe, 8 616461
Tags
Red Red List (low evidence)
GATAD2B
6 reviews
4 red
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
GATM
6 reviews
5 red
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GCSH
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
GLRB
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Hyperekplexia 2, 614619
Tags
Red Red List (low evidence)
H3F3A
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
H3F3B
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
INO80
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability, epilepsy and primary microcephaly
Tags
Red Red List (low evidence)
KAT5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
MAPK10
7 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epileptic Encephalopathy
  • EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
Tags
Red Red List (low evidence)
MATN4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus
Tags
Red Red List (low evidence)
MT-TL1
4 reviews
4 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
NDUFA11
1 review
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency 252010
Tags
Red Red List (low evidence)
NID1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hydrocephalus, focal epilepsy and hemiparesis
Tags
Red Red List (low evidence)
NRAS
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
PCDHB4
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability, microcephaly and epilepsy
Tags
Red Red List (low evidence)
PRICKLE2
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
Tags
Red Red List (low evidence)
PSMB8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome 256040
Tags
Red Red List (low evidence)
RUBCN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive 15 615705
Tags
Red Red List (low evidence)
RYR3
6 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy
Tags
Red Red List (low evidence)
SCN2B
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
SEC24D
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual disability and epilepsy
Tags
Red Red List (low evidence)
SHH
2 reviews
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
SLC6A5
6 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Red Red List (low evidence)
TUBA3E
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Global developmental delay, primary microcephaly, lissencephaly, epilepsy
Tags
No list No list
ATN1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Feeding difficulties
  • Abnormality of the cardiovascular system
  • Cleft palate
  • Abnormality of the kidney
Tags
No list No list
CACNA1B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Global developmental delay
  • Developmental regression
  • Seizures
  • Intellectual disability
  • Abnormality of movement
Tags
No list No list
DHPS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Abnormal muscle tone
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • EEG abnormality
  • Behavioral abnormality
  • Abnormality of head or neck
Tags
No list No list
FUK
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Feeding difficulties
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Abnormality of vision
Tags
  • new-gene-name
No list No list
KCND2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • autism
  • epilepsy
Tags
No list No list
KCNH5
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • epilepsy
Tags
No list No list
KCNT2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • epilepsy
Tags
No list No list
KMT2E
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Seizures
  • Abnormality of skull size
Tags
No list No list
LSS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Alopecia
  • Abnormality of the skin
  • Hypotonia
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Abnormality of the genital system
  • Microcephaly
Tags
No list No list
P4HTM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Central hypotonia
  • Muscular hypotonia
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Abnormality of the eye
  • Hypoventilation
  • Sleep apnea
  • Dysautonomia
Tags
No list No list
PPP2CA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Feeding difficulties
  • Muscular hypotonia
  • Global developmental delay
  • Intellectual disability
  • Language impairment
  • Seizures
  • Abnormality of nervous system morphology
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
  • new-gene-name
No list No list
RNF13
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Congenital microcephaly
  • Feeding difficulties
  • Failure to thrive
  • Abnormal muscle tone
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Cortical visual impairment
  • Sensorineural hearing impairment
Tags
No list No list
SNAP25
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • ?Myasthenic syndrome, congenital 18, 616330
Tags
No list No list
TRRAP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Autism
  • Microcephaly
  • Abnormal heart morphology
  • Abnormality of the urinary system
  • Seizures
Tags
No list No list
USP7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Global developmental delay
  • Delayed speech and language development
  • Intellectual disability
  • Behavioral abnormality
  • Seizures
  • Abnormality of brain morphology
  • Hypogonadism
Tags
No list No list
VAMP2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Generalized hypotonia
  • Global developmental delay
  • Intellectual disability
  • Autistic behavior
  • Stereotypic behavior
  • Seizures
  • Abnormality of movement
  • Cortical visual impairment
Tags
No list No list
VPS11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Leukodystrophy, hypomyelinating, 12 (MIM 616683)
Tags
No list No list
WARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710
Tags
No list No list
ZDHHC9
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • intellectual disability
  • epilepsy
Tags
No list No list
ZMIZ1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
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
No list No list
ZNF142
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Tremor
  • Dystonia
Tags

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