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Genetic Epilepsy

Gene: GABRA2

Green List (high evidence)

GABRA2 (gamma-aminobutyric acid type A receptor alpha2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000151834
EnsemblGeneIds (GRCh37): ENSG00000151834
OMIM: 137140, Gene2Phenotype
GABRA2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated individuals reported in three publications.
Sources: Expert list
Created: 3 Jan 2020, 1:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 78, MIM# 618557

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 78, MIM# 618557
OMIM
137140
Clinvar variants
Variants in GABRA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabra2 has been classified as Green List (High Evidence).

3 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gabra2 has been classified as Green List (High Evidence).

3 Jan 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: GABRA2 was added gene: GABRA2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: GABRA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRA2 were set to 29961870; 31032849; 29422393 Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, MIM# 618557 Review for gene: GABRA2 was set to GREEN