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Intellectual disability syndromic and non-syndromic

Gene: GABRD

Green List (high evidence)

GABRD (gamma-aminobutyric acid type A receptor delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000187730
EnsemblGeneIds (GRCh37): ENSG00000187730
OMIM: 137163, Gene2Phenotype
GABRD is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Susceptibility to epilepsy, MIM#613060: Limited reports. The variant originally reported in PMID 15115768 in association with epilepsy is present in >4,000 hets in gnomad and 55 homs which is not consistent with a Mendelian disorder.

PMID 34633442: 10 individuals with 7 unique variants reported in individuals with neurodevelopmental disorders and epilepsy. Six of the variants were demonstrated to be GoF, and those individuals with neurodevelopmental disorders with behavioural issues, various degrees of intellectual disability, generalized epilepsy with atypical absences and generalized myoclonic and/or bilateral tonic-clonic seizures. In contrast, the one individual carrying a loss-of-function variant had normal intelligence, no seizure history but has a diagnosis of autism spectrum disorder and suffering from elevated internalizing psychiatric symptoms.
Sources: Literature
Created: 14 Oct 2021, 3:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • Epilepsy
  • Susceptibility to epilepsy, MIM#613060
OMIM
137163
Clinvar variants
Variants in GABRD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GABRD was added gene: GABRD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: GABRD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRD were set to 15115768; 34633442 Phenotypes for gene: GABRD were set to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 Review for gene: GABRD was set to GREEN