ADAR

Chr 1ARAD

adenosine deaminase RNA specific

Also known as: ADAR1, AGS6, DRADA, DSH, DSRAD, G1P1, IFI-4, IFI4

NCBI Gene: 103 ENSG00000160710 UniProt: P55265 OMIM: 146920

This gene encodes an enzyme that catalyzes adenosine-to-inosine RNA editing in double-stranded RNA, which can alter protein sequences, RNA splicing, and RNA stability. Mutations cause Aicardi-Goutières syndrome 6, a severe early-onset encephalopathy with neuroinflammation, and dyschromatosis symmetrica hereditaria, a skin pigmentation disorder. The gene shows both autosomal recessive and autosomal dominant inheritance patterns depending on the associated phenotype.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Aicardi-Goutieres syndrome 6MIM #615010

Dyschromatosis symmetrica hereditariaMIM #127400

Clinical highlights

Gene-disease validity (ClinGen)

Leigh syndrome · ARLimitednot for standalone diagnostic reporting3 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

185

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

LOF

Mechanism· G2P