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DDG2P

Gene: GABRA4

Green List (high evidence)
GABRA4 (gamma-aminobutyric acid type A receptor alpha4 subunit)
EnsemblGeneIds (GRCh38): ENSG00000109158
EnsemblGeneIds (GRCh37): ENSG00000109158
OMIM: 137141, Gene2Phenotype
GABRA4 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for GABRA4-related neurodevelopmental disorder with seizures are moderate, monoallelic_autosomal and undetermined non-loss-of-function (PMID:38565639). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03766.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
GABRA4-related neurodevelopmental disorder with seizures; MONDO:0100038

Publications

Mode of pathogenicity
Other

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GABRA4-related neurodevelopmental disorder with seizures
  • MONDO:0100038
OMIM
137141
Clinvar variants
Variants in GABRA4
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GABRA4 was added gene: GABRA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRA4 were set to 38565639 Phenotypes for gene: GABRA4 were set to GABRA4-related neurodevelopmental disorder with seizures; MONDO:0100038 Mode of pathogenicity for gene: GABRA4 was set to Other