TAMM41

TAM41 mitochondrial translocator assembly and maintenance homolog
OMIM: 614948, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TAMM41 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139
  • hypotonia
  • developmental delay
  • myopathy
  • ptosis

Green TAMM41 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 Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139
    • hypotonia
    • developmental delay
    • myopathy
    • ptosis

    Green TAMM41 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139