1. Panels
  2. Likely inborn error of metabolism
  3. ADAR
Genes in panel
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Likely inborn error of metabolism

Gene: ADAR

Green List (high evidence)
ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed G2P. Numerous variants reported.
Created: 6 Mar 2017, 12:09 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:55 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Intracerebral calcification disorders

Created: 6 Jan 2017, 1:55 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

History Filter Activity

25 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6 to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ADAR. Source London North GLH was added to ADAR.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ADAR was added gene: ADAR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 27604308; 12916015; 23001123 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6