Genetic Epilepsy
Gene: ADRA2B

ADRA2B (adrenoceptor alpha 2B)
EnsemblGeneIds (GRCh38): ENSG00000274286
EnsemblGeneIds (GRCh37): ENSG00000222040
OMIM: 104260, Gene2Phenotype
ADRA2B is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment when marking as ready: Association has in fact been REFUTED by Corbett et al 2019, who identified an alternative cause in the original families.
Created: 4 Jan 2020, 12:37 a.m. | Last Modified: 4 Jan 2020, 12:37 a.m.

Panel Version: 0.113

Two families reported but same mutation, ?founder effect. Most affected individuals had normal intellect.
Another paper linking to AR intellectual disability but as part of manuscript reporting multiple novel candidates.
Created: 23 Nov 2019, 2:37 a.m. | Last Modified: 23 Nov 2019, 2:37 a.m.

Panel Version: 0.14

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cortical myoclonus and epilepsy

Publications

Created: 23 Nov 2019, 2:37 a.m.
Last Modified: 23 Nov 2019, 2:37 a.m.
Panel version: Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.14

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Cortical myoclonus and epilepsy

OMIM

104260

Clinvar variants

Variants in ADRA2B

Penetrance

None

Publications

Panels with this gene