Hereditary Pigmentary Disorders

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 24 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Both mono-allelic and bi-allelic variants associated with AGS.

Mono-allelic variants associated with Dyschromatosis symmetrica hereditaria, MIM#127400, reported predominantly in individuals of Asian heritage.
Created: 11 Nov 2020, 3:10 a.m. | Last Modified: 11 Nov 2020, 3:10 a.m.
Panel Version: 0.5355

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 6, MIM# 615010; Dyschromatosis symmetrica hereditaria, MIM# 127400

History Filter Activity

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adar has been classified as Green List (High Evidence).

30 May 2025, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: adar has been classified as Green List (High Evidence).

30 May 2025, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ADAR was added gene: ADAR was added to Hereditary Pigmentary Disorders. Sources: Expert list Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADAR were set to 28561207; 25982145; 24262145; 37770123; 32911246; 18705826 Phenotypes for gene: ADAR were set to ADAR-related type 1 interferonopathy MONDO:0700261