autosomal recessive optic atrophy, OPA7 type
MONDO:0013069Mondo
Findings
No curated finding names autosomal recessive optic atrophy, OPA7 type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Central scotomaHPOHP:0000603
- Childhood onset
- Optic disc pallorHPOHP:0000543
- Visual impairmentHPOHP:0000505
- Childhood onset
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.
- TMEM126AHGNC:25382
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
Other names
1 name
Resolves to: autosomal recessive optic atrophy, OPA7 type
- Also called
- TMEM126A-related optic atrophy with or without extraocular features