PanelApp
  1. Genes and Genomic Entities
  2. USMG5

USMG5

up-regulated during skeletal muscle growth 5 homolog (mouse)
OMIM: 615204, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber USMG5 in Mendeliome


Version 1.3936

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683

Amber USMG5 in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.3

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
    Tags
    • new gene name

    Amber USMG5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.542

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683