Genomics England
GMS Panels
Panels
Genes and Entities

SGMS2

sphingomyelin synthase 2
OMIM: 611574
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550, calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470