OPA2

optic atrophy 2 (obscure)
OMIM: 311050, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
No list OPA2 in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.30
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • Other
Phenotypes
  • Optic atrophy 2, X-linked
Tags
  • locus-type-phenotype-only
  • ensembl_ids_known_missing
  • curated_removed