1. Genes and Genomic Entities
  2. MRPS23

MRPS23

mitochondrial ribosomal protein S23
OMIM: 611985, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber MRPS23 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 46, OMIM:618952
    • combined oxidative phosphorylation deficiency 46, MONDO:0033534
    Tags
    • Q2_26_promote_green
    Amber MRPS23 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 46, OMIM:618952
    • combined oxidative phosphorylation deficiency 46, MONDO:0033534
    Tags
    • Q2_26_promote_green
    Amber MRPS23 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Expert list
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 46, OMIM:618952
    • combined oxidative phosphorylation deficiency 46, MONDO:0033534
    Tags
    • Q2_26_promote_green