MCAT

malonyl-CoA-acyl carrier protein transacylase
OMIM: 614479, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber MCAT in Optic neuropathy


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • progressive autosomal recessive optic neuropathy
  • Hereditary optic neuropathy, MONDO:0020249