Nucleotide metabolism disorders

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 23 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

20 May 2024, Gel status: 3

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 Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 29221912; 23001123; 24262145 Phenotypes for gene: ADAR were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866