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  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 0.138

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature

Green MRPL44 in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset

    		•  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 1.94
    Latest signed off version: v1.17 (11 Nov 2020)

    		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 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset

    		•  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 Cardiomyopathies - including childhood onset


    Version 1.75
    Latest signed off version: v1.4 (19 Feb 2020)

    		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 1.127

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