DDG2P
Gene: GABRD

GABRD (gamma-aminobutyric acid type A receptor delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000187730
EnsemblGeneIds (GRCh37): ENSG00000187730
OMIM: 137163, Gene2Phenotype
GABRD is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease GABRD-related neurodevelopmental disorder with epilepsy is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 34633442;25156961).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

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

Phenotypes
GABRD-related neurodevelopmental disorder with epilepsy

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

GABRD-related neurodevelopmental disorder with epilepsy

Tags

de novo

OMIM

137163

Clinvar variants

Variants in GABRD

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag de novo tag was added to gene: GABRD.

21 Feb 2025, 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: GABRD was added gene: GABRD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GABRD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GABRD were set to 25156961; 34633442 Phenotypes for gene: GABRD were set to GABRD-related neurodevelopmental disorder with epilepsy Mode of pathogenicity for gene: GABRD was set to Other

DDG2P Gene: GABRD