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

MRPS23

mitochondrial ribosomal protein S23
OMIM: 611985, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green MRPS23 in Mendeliome


Version 2.0

1 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 2.0

1 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