Neurotransmitter Defects
Gene: GABRDEnsemblGeneIds (GRCh38): ENSG00000187730
EnsemblGeneIds (GRCh37): ENSG00000187730
OMIM: 137163, Gene2Phenotype
GABRD is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 14 Oct 2021, 3:19 a.m. | Last Modified: 14 Oct 2021, 3:19 a.m.
Panel Version: 1.1
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.Created: 30 Dec 2020, 1:42 a.m. | Last Modified: 14 Oct 2021, 3:19 a.m.
Panel Version: 1.1
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
- Victorian Clinical Genetics Services
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GABRD were changed from Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GABRD were changed from Susceptibility to epilepsy, MIM#613060 to Intellectual disability; Epilepsy; Susceptibility to epilepsy, MIM#613060
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GABRD were set to 15115768
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gabrd has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gabrd has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GABRD were changed from to Susceptibility to epilepsy, MIM#613060
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GABRD were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: GABRD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gabrd has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GABRD was added gene: GABRD was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GABRD was set to Unknown