1. Genes and Genomic Entities
  2. USMG5

USMG5

up-regulated during skeletal muscle growth 5 homolog (mouse)
OMIM: 615204, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber USMG5 in Mitochondrial disorder with complex V deficiency


Level 2: Mitochondrial
Version 3.7
Latest signed off version: v3.6 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683
  • mitochondrial respiratory chain complex deficiency, MONDO:0000066
Tags
  • new-gene-name
  • Q2_26_promote_green
Amber USMG5 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683
    • mitochondrial respiratory chain complex deficiency, MONDO:0000066
    Tags
    • new-gene-name
    • Q2_26_promote_green
    Amber USMG5 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683
    • mitochondrial respiratory chain complex deficiency, MONDO:0000066
    Tags
    • new-gene-name
    • Q2_26_promote_green
    Amber USMG5 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6, OMIM:618683
    • mitochondrial respiratory chain complex deficiency, MONDO:0000066
    Tags
    • new-gene-name
    • Q2_26_promote_green