ClinGen request to relabel MONDO:0013069

[peastc]

Mondo term (ID and Label):
MONDO:0013069, autosomal recessive optic atrophy, OPA7 type

Suggested new label:
TMEM126A-related optic atrophy with or without extraocular features

Your nano-attribution (ORCID)
https://orcid.org/0009-0007-1636-9645

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
Upon the curation of the gene-disease relationship between autosomal recessive optic atrophy and TMEM126A to the definitive level, the ClinGen Glaucoma and Neuro-Ophthalmology GCEP finds it relevant to relabel this term to the ClinGen preferred dyadic name to represent the very strong evidence of this gene disease relationship known to exist in the literature at this time.
PMIDs used to in the curation reviewed and approved by experts are: 19327736, 20405026, 22815638, 22815638, 31119195, 30961538, 36071901, 23500070, 33882309, 33879611, 33879611, 33879611
TMEM126A 09192024 .pdf