MRPL49

mitochondrial ribosomal protein L49
OMIM: 606866, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MRPL49 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO:0044970, MRPL49-related

Green MRPL49 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.970

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MRPL49-related

    Green MRPL49 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.213

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MRPL49-related

    Green MRPL49 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MRPL49-related

    Green MRPL49 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.340

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MRPL49-related