PanelApp (stage)
  1. Genes and Genomic Entities
  2. MRPS2

MRPS2

mitochondrial ribosomal protein S2
OMIM: 611971, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MRPS2 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 36, MIM# 617950

Green MRPS2 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 36, MIM# 617950