PanelApp
  1. Genes and Genomic Entities
  2. MRPL39

MRPL39

mitochondrial ribosomal protein L39
OMIM: 611845, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MRPL39 in Mendeliome


Version 1.3513

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646

Green MRPL39 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646