Description
Genetic Epilepsies with Febrile Seizures Plus (GEFS+) eligibility statement:

Genetic Epilepsies with Febrile Seizures Plus inclusion criteria (29494)
Families with:

- autosomal dominant inheritance (with at least 2 first degree family members or 3 generations affected)
- electrographically-proven generalised seizures, which may, or may not be associated with intellectual impairment; and febrile seizures or febrile seizures plus;
AND where:
- focal seizures form are a minor part of the family phenotype

Genetic Epilepsies with Febrile Seizures Plus exclusion criteria (29494)
- SCN1A positive;
- No family history of febrile seizures (recruit under familial GGE);
- No family history of generalised seizure disorder;
- Suspected acquired cause of epilepsy based on history or imaging;
- Previously identified genetic cause of epilepsy

Prior genetic testing guidance (29494)
- 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 (29494)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

6 genes

6 reviewed, 3 green

List Gene Reviews Mode of inheritance Details
6 genes
Green Green List (high evidence)
GABRG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Generalized Epilepsy with Febrile Seizures Plus
  • Epilepsy, generalized, with febrile seizures plus, type 3
  • Febrile seizures, familial, 8
  • 611277
Green Green List (high evidence)
SCN1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement exclusion criteria
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 2
  • Febrile seizures, familial, 3A
  • Generalized Epilepsy With Febrile Seizures Plus, Type 2
  • GEFSP2
  • 604403
Green Green List (high evidence)
SCN1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Generalized Epilepsy with Febrile Seizures Plus
  • Epilepsy, generalized, with febrile seizures plus, type 1
Red Red List (low evidence)
ADGRV1
2 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
Red Red List (low evidence)
CPA6
2 reviews
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Febrile seizures, familial, 11
  • Epilepsy, familial temporal lobe, 5
Red Red List (low evidence)
SCN9A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 7
  • Febrile seizures, familial, 3B
  • Familial Febrile Seizures
  • Generalized Epilepsy with Febrile Seizures Plus

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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