Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: GABRA6

Red List (low evidence)

GABRA6 (gamma-aminobutyric acid type A receptor alpha6 subunit)
EnsemblGeneIds (GRCh38): ENSG00000145863
EnsemblGeneIds (GRCh37): ENSG00000145863
OMIM: 137143, Gene2Phenotype
GABRA6 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One report in a cohort of patients with BFIE. Potential susceptibility allele in CAE.
Sources: Literature
Created: 24 Aug 2020, 8:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Benign familial inherited epilepsy; Childhood absence epilepsy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Benign familial inherited epilepsy
  • Childhood absence epilepsy
OMIM
137143
Clinvar variants
Variants in GABRA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabra6 has been classified as Red List (Low Evidence).

24 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GABRA6 was added gene: GABRA6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GABRA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRA6 were set to 21930603; 29215089; 19429026 Phenotypes for gene: GABRA6 were set to Benign familial inherited epilepsy; Childhood absence epilepsy Review for gene: GABRA6 was set to RED