Description
Epilepsy Plus eligibility statement:

Epilepsy plus other features inclusion criteria (41928)
Established diagnosis of epilepsy, confirmed by a neurologist

AND with at least one additional phenotype from: intellectual disability, autism spectrum disorder, structural abnormality (e.g. dysmorphism, cerebral or somatic malformation), unexplained cognitive/memory decline

OR
Consanguineous parents

Epilepsy plus other features exclusion criteria (41928)
Case falls into one of the other GeL epilepsy disease categories
Focal, unilateral cerebral malformations

Prior genetic testing guidance (41928)
- 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.

Epilepsy plus other features prior genetic testing genes (41928)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
As dictated by local practice and clinical phenotype including consideration of SCN1A

Closing statement (41928)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Cristina Dias (The Francis Crick Institute)

    Group: NHS Genomic Medicine Centre
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

142 Entities

6 reviewed, 68 green

List Entity Reviews Mode of inheritance Details
142 Entitiess
Green Green List (high evidence)
KIF1BP
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Goldberg-Shprintzen megacolon syndrome
Tags
Green Green List (high evidence)
NEXMIF
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 98
Tags
Green Green List (high evidence)
ADSL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Adenylosuccinase deficiency
Tags
Green Green List (high evidence)
ALG13
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Congenital disorder of glycosylation, type Is
  • Infantile spasms and LGS
Tags
Green Green List (high evidence)
ARHGEF9
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Tags
Green Green List (high evidence)
ARX
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Tags
Green Green List (high evidence)
ATP1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
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)
ATRX
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Alpha-thalassemia/mental retardation syndrome
  • Mental retardation-hypotonic facies syndrome, X-linked
Tags
Green Green List (high evidence)
CDKL5
0 reviews
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
Phenotypes
  • Angelman syndrome-like
  • Epileptic encephalopathy, early infantile, 2
Tags
Green Green List (high evidence)
CHD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
CHRNA4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Literature
  • UKGTN
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 1
  • 600513
Tags
Green Green List (high evidence)
CNTNAP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cortical Dysplasia-Focal Epilepsy Syndrome
  • Cortical dysplasia-focal epilepsy syndrome
  • Pitt-Hopkins like syndrome 1
Tags
Green Green List (high evidence)
DEPDC5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial focal, with variable foci
  • 604364
  • Epilepsy, familial focal, with variable foci
Tags
Green Green List (high evidence)
DNM1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
DOCK7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
  • EIEE23
Tags
Green Green List (high evidence)
DYRK1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Tags
Green Green List (high evidence)
EHMT1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Kleefstra syndrome
Tags
Green Green List (high evidence)
FOXG1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Rett syndrome, congenital variant
Tags
Green Green List (high evidence)
GABRA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Expert list
Phenotypes
  • 611136
  • Epileptic encephalopathy, early infantile, 19
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GABRB3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy, childhood absence, susceptibility to, 5
  • EPILEPTIC ENCEPHALOPATHIES
  • {Epilepsy,juvenilemyoclonic,susceptibilityto,8},607628{Epilepsy,juvenileabsence,susceptibilityto,2},607628{Epilepsy,idiopathicgeneralized,susceptibilityto,11},607628
Tags
Green Green List (high evidence)
GABRG2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy,generalized,withfebrileseizuresplus,type3
  • Febrile seizures, familial, 8
  • 611277
  • Generalized Epilepsy with Febrile Seizures Plus
  • Epilepsy, generalized, with febrile seizures plus, type 3
Tags
Green Green List (high evidence)
GNAO1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • EPILEPTIC ENCEPHALOPATHY
  • Epileptic encephalopathy, early infantile, 17
Tags
Green Green List (high evidence)
GRIN1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
  • NDHMSD
  • Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
  • NDHMSR
  • Mental retardation, autosomal dominant 8
  • early onset epileptic encephalopathies
  • involuntary movements
  • severe developmental delay
  • intellectual disability
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
GRIN2A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 6
  • Epileptic encephalopathy, early infantile, 27
  • EPILEPTIC ENCEPHALOPATHY
  • AUTISM
Tags
Green Green List (high evidence)
HCN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 24
Tags
Green Green List (high evidence)
IQSEC2
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 1
Tags
Green Green List (high evidence)
KCNA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 32
  • EPILEPTIC ENCEPHALOPATHY
Tags
Green Green List (high evidence)
KCNB1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 26
Tags
Green Green List (high evidence)
KCNJ10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME)
  • SESAME syndrome
Tags
Green Green List (high evidence)
KCNQ2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Benign Familial Neonatal Seizures
  • Seizures, benign neonatal, type 2
Tags
Green Green List (high evidence)
KCNT1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 615005
  • 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)
MAPK10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epileptic Encephalopathy
  • EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE
Tags
Green Green List (high evidence)
MBD5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 1
Tags
Green Green List (high evidence)
MECP2
0 reviews
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
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • 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
Tags
Green Green List (high evidence)
PCDH19
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
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 300088
  • Epileptic encephalopathy, early infantile, 9
Tags
  • x-linked-over-dominance
Green Green List (high evidence)
PIGA
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2
Tags
Green Green List (high evidence)
PLCB1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Early Infantile Epileptic Encephalopathy, Autosomal Recessive
  • Epileptic encephalopathy, early infantile, 12
Tags
Green Green List (high evidence)
PNKP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Early infantile epileptic encephalopathy type 10
  • Ataxia-oculomotor apraxia 4
  • Microcephaly, seizures, and developmental delay
Tags
Green Green List (high evidence)
POLG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • UKGTN
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)
PRRT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 31
  • INTELLECTUAL DISABILITY
Tags
Green Green List (high evidence)
QARS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
Tags
Green Green List (high evidence)
SCN1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement exclusion criteria
  • Eligibility statement prior genetic testing
  • Expert
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2
  • Febrile seizures, familial, 3A
  • 604403
  • Generalized Epilepsy With Febrile Seizures Plus, Type 2
  • GEFSP2
  • 607208
  • Dravet syndrome
Tags
Green Green List (high evidence)
SCN1B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Generalized Epilepsy with Febrile Seizures Plus
  • Epilepsy, generalized, with febrile seizures plus, type 1
  • Epilepsy, generalized, with febrile seizures plus, type 1
  • 604233
Tags
Green Green List (high evidence)
SCN2A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Benign Familial Neonatal Infantile Seizures
  • Early Infantile Epileptic Encephalopathy, Autosomal Dominant
  • Seizures, benign familial infantile, 3
  • Epileptic encephalopathy, early infantile, 11
  • BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Tags
Green Green List (high evidence)
SCN8A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia
  • Intellectual disability
  • Epileptic encephalopathy, early infantile, 13
Tags
Green Green List (high evidence)
SETD5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Mental retardation, autosomal dominant 23
Tags
Green Green List (high evidence)
SIK1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
  • Epileptic encephalopathy, early infantile, 30
Tags
Green Green List (high evidence)
SLC12A5
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • epilepsy of infancy with migrating focal seizures (EIMFS)
Tags
Green Green List (high evidence)
SLC13A5
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 25
Tags
Green Green List (high evidence)
SLC16A2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Allan-Herndon-Dudley syndrome
Tags
Green Green List (high evidence)
SLC25A22
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epileptic encephalopathy, early infantile, 3
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • {Epilepsy,idiopathicgeneralized,suscpetibilityto,12}
  • 614847
  • 606777
  • 612126
  • Dystonia 9
Tags
Green Green List (high evidence)
SLC6A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC9A6
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type
Tags
Green Green List (high evidence)
SPTAN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epileptic encephalopathy, early infantile, 5
Tags
Green Green List (high evidence)
STX1B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
STXBP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epileptic encephalopathy, early infantile, 4
Tags
Green Green List (high evidence)
SYNGAP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, autosomal dominant 5
Tags
Green Green List (high evidence)
TCF4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Pitt-Hopkins syndrome
Tags
Green Green List (high evidence)
UBE2A
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, X-linked syndromic, Nascimento-type
Tags
Green Green List (high evidence)
UBE3A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert
  • Expert Review Green
  • UKGTN
Phenotypes
  • Angelman syndrome
Tags
Green Green List (high evidence)
WDR45
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
WWOX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Tags
Green Green List (high evidence)
ZEB2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mowat-Wilson syndrome
Tags
Red Red List (low evidence)
ABAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • GABA-transaminase deficiency
Tags
Red Red List (low evidence)
ADGRV1
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Febrile seizures, familial, 4, 604352Usher syndrome, type 2C, 605472Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472
Tags
Red Red List (low evidence)
ALDH7A1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
ATP1A2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
BTD
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CACNA1A
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CACNA1H
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CACNB4
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682Episodic ataxia, type 5, 613855
Tags
Red Red List (low evidence)
CASK
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CASR
0 reviews
Not set
Sources
  • 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
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
CHRNA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Red
  • Literature
Phenotypes
  • 610353
  • Epilepsy, nocturnal frontal lobe, type 4
Tags
Red Red List (low evidence)
CHRNB2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Red
  • Literature
  • UKGTN
Phenotypes
  • Epilepsy, nocturnal frontal lobe, 3
  • 605375
Tags
Red Red List (low evidence)
CLN3
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CLN5
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CLN6
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CLN8
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
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)
COL4A1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
COL4A2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CPA6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial Temporal Lobe Epilepsy
  • Febrile seizures, familial, 11
  • Epilepsy, familial temporal lobe, 5
Tags
Red Red List (low evidence)
CRH
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
CSNK1G1
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
CSTB
1 review
Not set
Sources
  • Expert
  • Expert Review Red
Tags
  • nucleotide-repeat-expansion
Red Red List (low evidence)
CTSD
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
EEF1A2
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Tags
Red Red List (low evidence)
EFHC1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
EPM2A
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
FTL
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial temporal lobe, 2 (2)
Tags
Red Red List (low evidence)
GABBR2
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
GABRD
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GAMT
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GATAD2B
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
GATM
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GLRA1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GLRB
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GOSR2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
GPHN
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
HLCS
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
HNRNPU
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy (Mefford (2011) Ann Neurol 70, 974)
Tags
Red Red List (low evidence)
KCNA1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
KCNC1
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
KCNMA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Generalized Epilepsy and Paroxysmal Dyskinesia
Tags
Red Red List (low evidence)
KCTD7
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
LGI1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Epilepsy, familial temporal lobe, 1
Tags
Red Red List (low evidence)
MAGI2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Infantile Spasms
Tags
Red Red List (low evidence)
MFSD8
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
MOCS1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
MOCS2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
MT-TL1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
NECAP1
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Epileptic encephalopathy, early infantile,21
Tags
Red Red List (low evidence)
NEDD4L
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • pilepsy,photosensitivegeneralized(Dibbens(2007)GenesBrainBehav6,750)
Tags
Red Red List (low evidence)
NHLRC1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
NRXN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
PCDH12
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • intellectual disability
  • microcephaly
  • epilepsy
  • perithalamic hyperechogenicity
  • periventricular hyperechogenicity
  • midbrain abnormalities
  • hypothalamic abnormalities
Tags
  • founder-effect
Red Red List (low evidence)
PIGQ
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
PNPO
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
PPT1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
PRICKLE1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
PRICKLE2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
RYR3
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
SCARB2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
SCN2B
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
SCN9A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial Febrile Seizures
  • Epilepsy, generalized, with febrile seizures plus, type 7
  • Febrile seizures, familial, 3B
  • Familial Febrile Seizures
  • Generalized Epilepsy with Febrile Seizures Plus
Tags
Red Red List (low evidence)
SLC6A5
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
SLC6A8
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
SMS
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
SRPX2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
ST3GAL3
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 15
Tags
Red Red List (low evidence)
SZT2
0 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epileptic encephalopathy, early infantile, 18
Tags
Red Red List (low evidence)
TBC1D24
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Familial Infantile Myoclonic Epilepsy
Tags
Red Red List (low evidence)
TBL1XR1
0 reviews
Not set
Sources
  • Expert Review
  • Expert Review Red
Tags
Red Red List (low evidence)
TPP1
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Tags
Red Red List (low evidence)
TSC1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Focal Cortical Dysplasia of Taylor
Tags

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