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Intellectual disability syndromic and non-syndromic

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)

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.
Sources: Expert list
Created: 7 Dec 2019, 2:21 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cortical myoclonus and epilepsy; Intellectual disability

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cortical myoclonus and epilepsy
  • Intellectual disability
OMIM
104260
Clinvar variants
Variants in ADRA2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, 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).

7 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADRA2B was added gene: ADRA2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ADRA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADRA2B were set to 24114805; 21937992 Phenotypes for gene: ADRA2B were set to Cortical myoclonus and epilepsy; Intellectual disability Review for gene: ADRA2B was set to RED