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

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