SPNS1

sphingolipid transporter 1 (putative)
OMIM: 612583, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SPNS1 in Mendeliome


Version 1.3050

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lysosomal disorder, SPNS1-related, MONDO:0002561

Amber SPNS1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.22

Component of the following Super Panels:

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