SPNS1:Ensemblv115

SPNS lysolipid transporter 1, lysophospholipid
OMIM: 612583, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber SPNS1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 2.0

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