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Intellectual disability syndromic and non-syndromic

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)

Six unrelated families reported, ID is part of the phenotype.
Sources: Expert list
Created: 4 Feb 2020, 8:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 78, 618557

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

4 Feb 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).

4 Feb 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).

4 Feb 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 Intellectual disability syndromic and non-syndromic. 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 29422393; 29961870; 31032849; 31032848 Phenotypes for gene: GABRA2 were set to Epileptic encephalopathy, early infantile, 78, 618557 Review for gene: GABRA2 was set to GREEN gene: GABRA2 was marked as current diagnostic