1. Genes and Genomic Entities
  2. SGMS2

SGMS2

sphingomyelin synthase 2
OMIM: 611574, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green SGMS2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
    • calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470
    Red SGMS2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
    Amber SGMS2 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
    • calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470