UV-sensitive syndrome 3
MONDO:0013834Mondo
Findings
No curated finding names UV-sensitive syndrome 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.
Definition from the Mondo Disease Ontology (MONDO:0013834), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
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.
- UVSSAHGNC:29304
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: UV-sensitive syndrome 3
- Also called
- UV-sensitive syndrome caused by mutation in UVSSAUV-sensitive syndrome type 3UVSSA UV-sensitive syndrome