SLC25A32:Ensemblv90

solute carrier family 25 member 32
OMIM: 610815, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SLC25A32 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Exercise intolerance, riboflavin-responsive, MIM# 616839

Green SLC25A32 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1299

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Exercise intolerance, riboflavin-responsive, MIM# 616839

    Green SLC25A32 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Expert list
    Phenotypes
    • Exercise intolerance, riboflavin-responsive MONDO:0014795

    Green SLC25A32 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 1.7

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Exercise intolerance, riboflavin-responsive, MONDO:0014795
    • Disorders of riboflavin metabolism

    Green SLC25A32 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Literature
    • Expert Review Green
    Phenotypes
    • Exercise intolerance, riboflavin-responsive MONDO:0014795

    Green SLC25A32 in Vitamin metabolism disorders


    Level 2: Metabolic disorders
    Version 2.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Exercise intolerance, riboflavin-responsive, MONDO:0014795
    • Disorders of riboflavin metabolism