POLR3A-related disorder
MONDO:0700276Mondo
Findings
No curated finding names POLR3A-related disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Disorder in which the cause of disease is a variation in the POLR3A gene.
Definition from the Mondo Disease Ontology (MONDO:0700276), 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.
- POLR3AHGNC:30074
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of