SLC25A42

solute carrier family 25 member 42
OMIM: 610823, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SLC25A42 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Tags
  • founder

Green SLC25A42 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
    Tags
    • founder

    Green SLC25A42 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
    Tags
    • founder