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  3. ADRA2A
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Lipodystrophy - childhood onset

Gene: ADRA2A

Red List (low evidence)
ADRA2A (adrenoceptor alpha 2A)
EnsemblGeneIds (GRCh38): ENSG00000150594
EnsemblGeneIds (GRCh37): ENSG00000150594
OMIM: 104210, Gene2Phenotype
ADRA2A is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Comment when marking as ready: ARDRA2A was included in this panel as a red gene as suggested by Keven Colclough (Royal Devon & Exeter Hospital). Familial partial lipodystrophy is not confirmed to be associated with ADRA2A in OMIM or Gene2Phenotype. There is only one variant reported (PMID: 27376152).
Created: 7 Jan 2019, 11:30 a.m.
Created: 7 Jan 2019, 11:30 a.m.

Panel version: 0.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
  • Expert list
Phenotypes
  • No OMIM number
  • familial partial lipodystrophy
OMIM
104210
Clinvar variants
Variants in ADRA2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Comment when marking as ready:

8 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: adra2a has been classified as Red List (Low Evidence).

7 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: adra2a has been classified as Red List (Low Evidence).

4 Jan 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ADRA2A was added gene: ADRA2A was added to Lipodystrophy - childhood onset. Sources: Expert list,Literature Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ADRA2A were set to 27376152 Phenotypes for gene: ADRA2A were set to No OMIM number; familial partial lipodystrophy