MRPL50

mitochondrial ribosomal protein L50
OMIM: 611854, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MRPL50 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial disease, MONDO: 004470, MRPL50-related

Amber MRPL50 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 Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO: 004470, MRPL50-related

    Amber MRPL50 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO: 004470, MRPL50-related