PanelApp
  1. Genes and Genomic Entities
  2. SLC52A1

SLC52A1

solute carrier family 52 member 1
OMIM: 607883, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SLC52A1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.39

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert Review Red
    • Expert list
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Riboflavin deficiency, MIM#615026

    Amber SLC52A1 in Mendeliome


    Version 1.3512

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Riboflavin deficiency, 615026

    Amber SLC52A1 in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Maternal riboflavin deficiency MONDO:0014013