Genomics England
GMS Panels
Panels
Genes and Entities

MRPL39

mitochondrial ribosomal protein L39
OMIM: 611845
PanelMode of inheritanceDetails
1 panel
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 59, OMIM:620646