MRPS36

mitochondrial ribosomal protein S36
OMIM: 611996, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber MRPS36 in Mendeliome


Version 1.4181

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
Tags
  • new gene name

Amber MRPS36 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.12

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
    Tags
    • new gene name

    Amber MRPS36 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.628

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related

    Amber MRPS36 in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.335

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
    Tags
    • new gene name

    Amber MRPS36 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.217

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related