cataract 13 with adult I phenotype
Findings
No curated finding names cataract 13 with adult I phenotype yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
Definition from the Mondo Disease Ontology (MONDO:0007289), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental cataractHPOHP:0000519
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.
- GCNT2HGNC:4204
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: cataract 13 with adult I phenotype
- Also called
- CTRCT13