Description
Epileptic encephalopathy eligibility statement:

Epileptic encephalopathy inclusion criteria (29508)
- Recurrent seizures with onset of epilepsy prior to two years of age AND
- Negative genome wide microarray copy number analysis

Epileptic encephalopathy exclusion criteria (29508)
- Major structural brain malformation such as cortical malformation, neuronal migration defect AND/OR
- Known clear biochemical, enzymatic or molecular genetic evidence of underlying metabolic cause, e.g. organic aciduria, vitamin B6 metabolism defect

Prior genetic testing guidance (29508)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29508)
These requirements will be kept under continual review during the main programme and may be subject to change.

17 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

  • Rachel Jones (GSTT)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

182 genes

182 reviewed, 109 green

List Gene Reviews Mode of inheritance Details
182 genes
Green Green List (high evidence)
KIF1BP
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome
Green Green List (high evidence)
NEXMIF
6 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 98
Green Green List (high evidence)
PLPBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, early-onset, vitamin B6-dependent, 617290
Tags
  • treatable
Green Green List (high evidence)
ADSL
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Adenylosuccinase deficiency
Green Green List (high evidence)
ALG11
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type Ip 613661
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
Phenotypes
  • Congenital disorder of glycosylation, type Is
  • Infantile spasms and LGS
Green Green List (high evidence)
ARHGEF9
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Green Green List (high evidence)
ARX
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Green Green List (high evidence)
ATP1A3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Alternating hemiplegia of childhood 2
  • Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly
  • Dystonia-12
  • CAPOS Syndrome (recurrent mutation)
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
Green Green List (high evidence)
ATRX
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome
  • Mental retardation-hypotonic facies syndrome, X-linked
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
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
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 Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Angelman syndrome-like
  • Epileptic encephalopathy, early infantile, 2
Green Green List (high evidence)
CHD2
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
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
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
Green Green List (high evidence)
CNTNAP2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Cortical dysplasia-focal epilepsy syndrome
  • Pitt-Hopkins like syndrome 1
Green Green List (high evidence)
CYFIP2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
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
Green Green List (high evidence)
DNM1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Green Green List (high evidence)
DOCK7
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
  • EIEE23
Green Green List (high evidence)
DPYD
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • 5-fluorouracil toxicity 274270
  • Dihydropyrimidine dehydrogenase deficiency 274270
Tags
  • pharmacogenetics
Green Green List (high evidence)
DYRK1A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Green Green List (high evidence)
EHMT1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Kleefstra syndrome
Green Green List (high evidence)
EML1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, 600348
Green Green List (high evidence)
EPG5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Green Green List (high evidence)
FOXG1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Rett syndrome, congenital variant
Green Green List (high evidence)
GABBR2
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Rett syndrome
Tags
  • de novo
Green Green List (high evidence)
GABRA1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Epileptic encephalopathy, early infantile, 19
  • EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)
GABRB3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
  • EPILEPTIC ENCEPHALOPATHIES
Green Green List (high evidence)
GLYCTK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • D-glyceric aciduria 220120
Tags
  • treatable
Green Green List (high evidence)
GNAO1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Epileptic encephalopathy, early infantile, 17
Green Green List (high evidence)
GPAA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Green Green List (high evidence)
GRIN1
6 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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
Green Green List (high evidence)
GRIN2A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Epilepsy, focal, with speech disorder and with or without mental retardation
  • EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS
  • LANDAU-KLEFFNER SYNDROME
Green Green List (high evidence)
GRIN2B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 6
  • Epileptic encephalopathy, early infantile, 27
  • EPILEPTIC ENCEPHALOPATHY
  • AUTISM
Green Green List (high evidence)
GSS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Glutathione synthetase deficiency 266130
  • Hemolytic anemia due to glutathione synthetase deficiency 231900
Tags
  • treatable
Green Green List (high evidence)
HCN1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 24
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
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
Green Green List (high evidence)
HNRNPU
5 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy
  • Epileptic encephalopathy, early infantile, 54, 617391
Green Green List (high evidence)
HTRA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type VIII 617248
Green Green List (high evidence)
IDH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • D-2-hydroxyglutaric aciduria 2 613657
Green Green List (high evidence)
IER3IP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • MEDS
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 Green
Phenotypes
  • Mental retardation, X-linked 1
Green Green List (high evidence)
ITPA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, 616647
Tags
  • pharmacogenetics
Green Green List (high evidence)
KCNA2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 32
  • EPILEPTIC ENCEPHALOPATHY
Green Green List (high evidence)
KCNB1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 26
Green Green List (high evidence)
KCNJ10
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)
  • SESAME syndrome
Green Green List (high evidence)
KCNQ2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • BENIGN NEONATAL EPILEPSY TYPE 1 (EBN1)
  • EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 (EIEE7)
  • Epileptic encephalopathy, early infantile, 7
  • Myokymia
  • Seizures, benign neonatal, 1
Green Green List (high evidence)
KCNQ3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Seizures, benign neonatal, type 2
Green Green List (high evidence)
KCNT1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 14
  • Epilepsy, nocturnal frontal lobe, 5
  • MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
  • SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Green Green List (high evidence)
MAPK10
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epileptic Encephalopathy
  • EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
Green Green List (high evidence)
MBD5
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 1
Green Green List (high evidence)
MDH2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 51 617339
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 Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopathy, neonatal severe
  • Angelman syndrome
  • Mental retardation, X-linked syndromic, Lubs type
  • Mental retardation, X-linked, syndromic 13
  • Rett syndrome
Green Green List (high evidence)
MEF2C
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 20
  • MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Green Green List (high evidence)
MFF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086
Green Green List (high evidence)
MOGS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital disorder of glycosylation, type IIb, 606056
Green Green List (high evidence)
MTOR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic
Green Green List (high evidence)
NACC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393
Green Green List (high evidence)
PCDH19
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
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epileptic encephalopathy, early infantile, 9
Tags
  • x-linked-over-dominance
Green Green List (high evidence)
PIGA
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2
Green Green List (high evidence)
PIGT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 615398
Green Green List (high evidence)
PLCB1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Recessive
  • Epileptic encephalopathy, early infantile, 12
Green Green List (high evidence)
PNKP
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Early infantile epileptic encephalopathy type 10
  • Ataxia-oculomotor apraxia 4
  • Microcephaly, seizures, and developmental delay
Green Green List (high evidence)
POLG
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type)
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Green Green List (high evidence)
PRODH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperprolinemia, type I 239500
Green Green List (high evidence)
PRRT2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • UKGTN
  • Expert Review Green
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
Green Green List (high evidence)
PURA
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 31
  • INTELLECTUAL DISABILITY
Green Green List (high evidence)
QARS
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Green Green List (high evidence)
RANBP2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033
Tags
  • treatable
Green Green List (high evidence)
SCN1A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Dravet syndrome
  • Epilepsy, generalized, with febrile seizures plus, type 2
  • Febrile seizures, familial, 3A
Green Green List (high evidence)
SCN1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 1
Green Green List (high evidence)
SCN2A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Dominant
  • Seizures, benign familial infantile, 3
  • Epileptic encephalopathy, early infantile, 11
  • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Green Green List (high evidence)
SCN8A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia
  • Intellectual disability
  • Epileptic encephalopathy, early infantile, 13
Green Green List (high evidence)
SETD5
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 23
Green Green List (high evidence)
SIK1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
  • Epileptic encephalopathy, early infantile, 30
Green Green List (high evidence)
SLC12A5
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • epilepsy of infancy with migrating focal seizures (EIMFS)
Green Green List (high evidence)
SLC13A5
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 25
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
Phenotypes
  • Allan-Herndon-Dudley syndrome
Green Green List (high evidence)
SLC1A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 41, 617105
Green Green List (high evidence)
SLC25A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Green Green List (high evidence)
SLC25A22
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 3
Green Green List (high evidence)
SLC2A1
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Dystonia 9
Tags
  • treatable
Green Green List (high evidence)
SLC35A2
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
  • Other
Phenotypes
  • Congenital disorder of glycosylation, type IIm, 300896 (includes Epileptic encephalopathy)
  • Epileptic encephalopathy, early infantile, 22 (EIEE22)
  • early-onset epileptic encephalopathy
Green Green List (high evidence)
SLC6A1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Green Green List (high evidence)
SLC6A19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Hartnup disorder 234500
Green Green List (high evidence)
SLC9A6
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • UKGTN
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type
Green Green List (high evidence)
SPATA5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, hearing loss, and mental retardation syndrome 616577
Green Green List (high evidence)
SPTAN1
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 5
Green Green List (high evidence)
STX1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Green Green List (high evidence)
STXBP1
5 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Epileptic encephalopathy, early infantile, 4
Green Green List (high evidence)
SUOX
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
Phenotypes
  • Sulfite oxidase deficiency 272300
Green Green List (high evidence)
SYNGAP1
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Expert
Phenotypes
  • Mental retardation, autosomal dominant 5
Green Green List (high evidence)
SYNJ1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Epileptic encephalopathy, early infantile, 53, 617389
Green Green List (high evidence)
SZT2
5 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 18, 615476
Green Green List (high evidence)
TCF4
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Pitt-Hopkins syndrome
Green Green List (high evidence)
TRAK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fatal encephalopathy
Green Green List (high evidence)
TRPM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypomagnesemia 1, intestinal 602014
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
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type
Green Green List (high evidence)
UBE3A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Angelman syndrome
Green Green List (high evidence)
WASF1
2 reviews
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
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 Green
Green Green List (high evidence)
WDR45B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations
Green Green List (high evidence)
WWOX
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Green Green List (high evidence)
YWHAG
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile 56, 617665
  • Seizures, multiple types
Green Green List (high evidence)
ZEB2
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mowat-Wilson syndrome
Amber Amber List (moderate evidence)
ATP6AP2
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mental retardation, X-linked, syndromic, Hedera type 300423
Amber Amber List (moderate evidence)
HAX1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Amber Amber List (moderate evidence)
TSC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic
Red Red List (low evidence)
ABAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • GABA-transaminase deficiency
Red Red List (low evidence)
ALDH7A1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
AP3B2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Epileptic encephalopathy, early infantile, 48 617276
Red Red List (low evidence)
ATP1A2
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
BTD
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CACNA1A
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CACNA1H
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CACNB4
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
CASK
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CBL
5 reviews
4 red
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
CCDC88C
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Spinocerebellar ataxia 40 616053 AD
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Red Red List (low evidence)
CHRNA2
6 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Epilepsy, nocturnal frontal lobe, type 4
Red Red List (low evidence)
CHRNA4
5 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • UKGTN
  • Expert Review Red
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1
Red Red List (low evidence)
CHRNB2
5 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • UKGTN
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3
Red Red List (low evidence)
CLN3
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CLN5
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CLN6
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
CLN8
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
COL4A1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
COL4A2
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CRH
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
CSNK1G1
5 reviews
4 red
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
CSTB
5 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
CTSD
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
DEPDC5
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
EEF1A2
4 reviews
4 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Red Red List (low evidence)
EFHC1
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
EPM2A
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
GABRD
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
GABRG2
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
GAMT
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
GATAD2B
5 reviews
4 red
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
GATM
5 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
GLRA1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
GLRB
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
GOSR2
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
GPHN
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
HLCS
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
KCNA1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
KCNC1
5 reviews
4 red
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
KCNMA1
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
KCTD7
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
LGI1
5 reviews
3 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • UKGTN
Phenotypes
  • Epilepsy, familial temporal lobe, 1
Red Red List (low evidence)
MAGI2
6 reviews
4 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Infantile Spasms
Red Red List (low evidence)
MFSD8
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
MOCS1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
MOCS2
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
MT-TL1
4 reviews
4 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • UKGTN
Red Red List (low evidence)
NECAP1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Epileptic encephalopathy, early infantile,21
Red Red List (low evidence)
NHLRC1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
NRXN1
4 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
  • UKGTN
Red Red List (low evidence)
PCDH12
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • intellectual disability
  • microcephaly
  • epilepsy
  • perithalamic hyperechogenicity
  • periventricular hyperechogenicity
  • midbrain abnormalities
  • hypothalamic abnormalities
Tags
  • founder-effect
Red Red List (low evidence)
PIGQ
5 reviews
4 red
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
PNPO
5 reviews
1 green 4 red
Not set
Sources
  • Expert Review Red
  • Expert
Tags
  • treatable
Red Red List (low evidence)
PPT1
5 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
PRICKLE1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
PRICKLE2
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
RYR3
5 reviews
4 red
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
SCARB2
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
SCN2B
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
SCN9A
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
SLC6A5
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
SLC6A8
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
SMS
4 reviews
4 red
Not set
Sources
  • Expert
  • Expert Review Red
Red Red List (low evidence)
SRPX2
4 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
ST3GAL3
4 reviews
4 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy, early infantile, 15
Red Red List (low evidence)
TBC1D24
4 reviews
4 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Red Red List (low evidence)
TBL1XR1
4 reviews
4 red
Not set
Sources
  • Expert Review Red
Red Red List (low evidence)
TPP1
5 reviews
4 red
Not set
Sources
  • Expert Review Red
  • Expert
Red Red List (low evidence)
TSC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Focal cortical dysplasia, type II, somatic 607341
Tags
  • mosaicism
  • somatic

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