1. Genes and Genomic Entities
  2. SLC25A42

SLC25A42

solute carrier family 25 member 42
OMIM: 610823, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SLC25A42 in Arthrogryposis


Level 2: Neurology
Version 10.23
Latest signed off version: v10.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
Amber SLC25A42 in Congenital myopathy


Level 2: Neurology
Version 7.80
Latest signed off version: v7.77 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
    Tags
    • watchlist
    Green SLC25A42 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 Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
    • mitochondrial myopathy
    Green SLC25A42 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416
    Green SLC25A42 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
    Green SLC25A42 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 Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • mitochondrial myopathy
    • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
    Tags
    • founder-effect