1. Genes and Genomic Entities
  2. MRPL44

MRPL44

mitochondrial ribosomal protein L44
OMIM: 611849, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red MRPL44 in Genomic imprinting


Version 0.149

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
Green MRPL44 in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

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 Green
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 16, 615395
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    Green MRPL44 in Possible mitochondrial disorder - nuclear genes


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 16, 615395
    Green MRPL44 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • ?Combined oxidative phosphorylation deficiency 16, 615395
    Green MRPL44 in Paediatric or syndromic cardiomyopathy


    Version 3.44
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert Review Green
    • London South GLH
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 16, 615395
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    Amber MRPL44 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Combined oxidative phosphorylation deficiency 16, 615395