enhanced S-cone syndrome
MONDO:0100288Mondo
Findings
No curated finding names enhanced S-cone syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Genes
2 genes
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.
- NR2E3HGNC:7974
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- NRLHGNC:8002
- Definitive · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (2)