OXA1L

OXA1L, mitochondrial inner membrane protein
OMIM: 601066, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber OXA1L in Mendeliome


Version 1.4235

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732

Amber OXA1L in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.14

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review Amber
    • NHS GMS
    • NHS GMS
    Phenotypes
    • OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732