PanelApp (test)
  1. Genes and Genomic Entities
  2. MRPL44

MRPL44

mitochondrial ribosomal protein L44
OMIM: 611849, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green MRPL44 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 16, MIM# 615395

Green MRPL44 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
    • Combined oxidative phosphorylation deficiency 16, MIM# 615395

    Green MRPL44 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 16, 615395