PanelApp
  1. Genes and Genomic Entities
  2. SGMS1

SGMS1

sphingomyelin synthase 1
OMIM: 611573, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber SGMS1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • complex neurodevelopmental disorder MONDO:0100038

Amber SGMS1 in Lysosomal Storage Disorder


Level 2: Metabolic conditions
Version 1.13

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038