congenital stationary night blindness autosomal dominant 3
Findings
No curated finding names congenital stationary night blindness autosomal dominant 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.
Definition from the Mondo Disease Ontology (MONDO:0012497), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
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.
- Early-onset non-progressive night blindnessHPOHP:0007642
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.
- GNAT1HGNC:4393
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: congenital stationary night blindness autosomal dominant 3
- Also called
- congenital stationary night blindness autosomal dominant type 3CSNBAD3night blindness, congenital stationary, autosomal dominant type 3