achromatopsia 7
MONDO:0014677Mondo
Findings
No curated finding names achromatopsia 7 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 ATF6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014677), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- AchromatopsiaHPOHP:0011516
- 5 of 6 reported patients
- Hypoplasia of the foveaHPOHP:0007750
- 5 of 6 reported patients
- Macular atrophyHPOHP:0007401
- 5 of 6 reported patients
- PhotophobiaHPOHP:0000613
- 5 of 6 reported patients
- NystagmusHPOHP:0000639
- 4 of 6 reported patients
- Central scotomaHPOHP:0000603
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.
- ATF6HGNC:791
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: achromatopsia 7
- Also called
- ACHM7achromatopsia caused by mutation in ATF6achromatopsia type 7ATF6 achromatopsia