1. Genes and Genomic Entities
  2. SLC25A42

SLC25A42

solute carrier family 25 member 42
OMIM: 610823, Gene2Phenotype

7 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0 (1 May 2024)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

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 - targeted testing not possible


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    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


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    		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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    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
    Green SLC25A42 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416