Description
Familial Genetic Generalised Epilepsies eligibility statement:

Familial Genetic Generalised Epilepsies inclusion criteria (29502)
- Electrographically-proven generalised epilepsy
- At least two first degree relatives or affected family members across three generations who have generalised epilepsy
- All forms of generalised epilepsy are permissible

Familial Genetic Generalised Epilepsies exclusion criteria (29502)
- Suspected acquired cause of epilepsy
- Focal neurological deficit
- MRI demonstrates structural substrate for epilepsy
- EEG demonstrates definite focal discharges

Prior genetic testing guidance (29502)
- 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 (29502)
These requirements will be kept under continual review during the main programme and may be subject to change.

5 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

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

25 genes

16 reviewed, 7 green

List Gene Reviews Mode of inheritance Details
25 genes
Green Green List (high evidence)
GABRA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • 611136
Green Green List (high evidence)
GABRG2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus,type3
  • Febrile seizures, familial, 8
  • 611277
Green Green List (high evidence)
PCDH19
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • 300088
Tags
  • x-linked-over-dominance
Green Green List (high evidence)
SCN1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2
  • Febrile seizures, familial, 3A
  • 604403
Green Green List (high evidence)
SCN1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 1
  • 604233
Green Green List (high evidence)
SLC2A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Epilepsy,idiopathicgeneralized,suscpetibilityto,12}
  • 614847
  • 606777
  • 612126
Green Green List (high evidence)
TRAK1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fatal encephalopathy
Amber Amber List (moderate evidence)
CACNA1H
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperaldosteronism, familial, type IV 617027
  • {Epilepsy, childhood absence, susceptibility to, 6} 611942
  • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
Red Red List (low evidence)
CACNA1G
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 42 616795
Red Red List (low evidence)
CACNB4
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682Episodic ataxia, type 5, 613855
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}
Red Red List (low evidence)
CLCN2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
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
Red Red List (low evidence)
CNTN2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial adult myoclonic, 5
Red Red List (low evidence)
CPA6
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Temporal Lobe Epilepsy
Red Red List (low evidence)
DEPDC5
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial focal, with variable foci
Red Red List (low evidence)
FTL
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial temporal lobe, 2 (2)
Red Red List (low evidence)
GABRB3
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Epilepsy,juvenilemyoclonic,susceptibilityto,8},607628{Epilepsy,juvenileabsence,susceptibilityto,2},607628{Epilepsy,idiopathicgeneralized,susceptibilityto,11},607628
Red Red List (low evidence)
KCNMA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Generalized Epilepsy and Paroxysmal Dyskinesia
Red Red List (low evidence)
KCNQ3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Benign Familial Neonatal Seizures
Red Red List (low evidence)
LGI1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial temporal lobe, 1
Red Red List (low evidence)
NEDD4L
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • pilepsy,photosensitivegeneralized(Dibbens(2007)GenesBrainBehav6,750)
Red Red List (low evidence)
PRRT2
1 review
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Red Red List (low evidence)
SCN2A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Benign Familial Neonatal Infantile Seizures
Red Red List (low evidence)
SCN9A
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Febrile Seizures
Tags
  • watchlist
Red Red List (low evidence)
TBC1D24
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial Infantile Myoclonic Epilepsy

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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