Usher syndrome type 2A
MONDO:0010169Mondo
Findings
No curated finding names Usher syndrome type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene.
Definition from the Mondo Disease Ontology (MONDO:0010169), 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.
- USH2AHGNC:12601
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Usher syndrome type 2A
- Also called
- retinal disease in usher syndrome type IIA, modifier ofUSH2AUSH2A Usher syndromeUsher syndrome caused by mutation in USH2A