SGMS2:Ensemblv90

sphingomyelin synthase 2
OMIM: 611574, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SGMS2 in Mendeliome Version 1.3802	1 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; Endocrine disorders Version 1.16	1 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
Red SGMS2 in Osteopetrosis Level 2: Skeletal disorders Version 0.98	2 reviews	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
Red SGMS2 in Fetal anomalies Version 1.482	1 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 Level 2: Screening Version 0.20	0 reviews	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
Green SGMS2 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders; Endocrine disorders Version 2.0	1 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
Red SGMS2 in Osteopetrosis Level 2: Skeletal disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Red Phenotypes Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550
Green SGMS2 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	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