RNU7-1-related type 1 interferonopathy
MONDO:0700263Mondo
Findings
No curated finding names RNU7-1-related type 1 interferonopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
Definition from the Mondo Disease Ontology (MONDO:0700263), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:34033HGNC:34033
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
- Narrower terms (1)