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Genetic Epilepsy

Gene: ADRA2B

Red List (low evidence)

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

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

History Filter Activity

4 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adra2b has been classified as Red List (Low Evidence).

4 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADRA2B were changed from to Cortical myoclonus and epilepsy

4 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADRA2B were set to

4 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adra2b has been classified as Red List (Low Evidence).

4 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adra2b has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADRA2B was added gene: ADRA2B was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADRA2B was set to Unknown