Nucleotide metabolism disorders
Gene: ADAR

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

Created: 11 Nov 2020, 3:10 a.m.
Last Modified: 11 Nov 2020, 3:10 a.m.
Panel version: Imported from Mendeliome panel version 0.5355

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Disorders of ectonucleotide and nucleic acid metabolism
Aicardi-Goutieres syndrome MONDO:0018866

OMIM

146920

Clinvar variants

Variants in ADAR

Penetrance

None

Publications

Panels with this gene

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

Nucleotide metabolism disorders Gene: ADAR