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 10.7
Latest signed off version: v10.0 (6 May 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 7.44
Latest signed off version: v7.0 (6 May 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 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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 5.4
    Latest signed off version: v5.0 (6 May 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 7.1
    Latest signed off version: v7.0 (6 May 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 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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