1. Genes and Genomic Entities
  2. MRPL12

MRPL12

mitochondrial ribosomal protein L12
OMIM: 602375, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red MRPL12 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Red MRPL12 in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

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

    		•  review Unknown
    Sources
    • Expert list
    • Expert Review Red
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • No OMIM phenotype
    Amber MRPL12 in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Growth retardation and neurological deterioration
    Red MRPL12 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • No OMIM phenotype