SPNS1

sphingolipid transporter 1 (putative)
OMIM: 612583, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SPNS1 in Mendeliome


Version 1.4216

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lysosomal disorder, SPNS1-related, MONDO:0002561

Green SPNS1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.27

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lysosomal disorder, SPNS1-related, MONDO:0002561

    Green SPNS1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Lysosomal disorder, SPNS1-related, MONDO:0002561