achromatopsia 4
MONDO:0013465Mondo
Findings
No curated finding names achromatopsia 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013465), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
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.
- AchromatopsiaHPOHP:0011516
- NystagmusHPOHP:0000639
- PhotophobiaHPOHP:0000613
- Visual impairmentHPOHP:0000505
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.
- GNAT2HGNC:4394
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: achromatopsia 4
- Also called
- ACHM4achromatopsia caused by mutation in GNAT2achromatopsia type 4GNAT2 achromatopsia