PanelApp (test)
  1. Genes and Genomic Entities
  2. MRPL12

MRPL12

mitochondrial ribosomal protein L12
OMIM: 602375, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red MRPL12 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth retardation
  • neurological deterioration
  • mitochondrial translation deficiency
  • Combined oxidative phosphorylation deficiency 45, MIM#618951

Red MRPL12 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 Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Growth retardation
    • neurological deterioration
    • mitochondrial translation deficiency
    • Combined oxidative phosphorylation deficiency 45, MIM#618951