PanelApp (stage)
  1. Genes and Genomic Entities
  2. MRPS23

MRPS23

mitochondrial ribosomal protein S23
OMIM: 611985, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MRPS23 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hepatic disease
  • Combined respiratory chain complex deficiencies
  • Hepatic disease
  • Combined respiratory chain complex deficiencies
  • Cardiomyopathy
  • Tubulopathy
  • Lactic acidosis
  • Structural brain abnormalities
  • Combined oxidative phosphorylation deficiency 45, MIM#618951

Green MRPS23 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
    • Hepatic disease
    • Combined respiratory chain complex deficiencies
    • Cardiomyopathy
    • Tubulopathy
    • Lactic acidosis
    • Structural brain abnormalities
    • Combined oxidative phosphorylation deficiency 46, MIM618952