SGMS2

sphingomyelin synthase 2
OMIM: 611574, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SGMS2 in Mendeliome


Version 1.1902

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 MIM#126550

Green SGMS2 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

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 MIM#126550

Green SGMS2 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550

Red SGMS2 in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia - MIM#126550

Green SGMS2 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550