SOST Chromosome 17
Sclerostin
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What This Gene Does
Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
DAN family
Locus Type
gene with protein product
Location
17q21.31
Ensembl
ENSG00000167941
Associated Conditions (4)
Sclerosteosis 1
Craniodiaphyseal dysplasia
autosomal dominant
SOST-related disorder
Key Variants
RS150640883
Conflicting classifications of pathogenicity
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS201706408
Conflicting classifications of pathogenicity
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS758794256
Conflicting classifications of pathogenicity
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS757158654
Likely pathogenic
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS104894644
Pathogenic
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS104894645
Pathogenic
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS377648601
Pathogenic
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS387906320
Pathogenic
Sclerosteosis 1, Sclerosteosis 1
Health Risk
RS387907169
Pathogenic
Craniodiaphyseal dysplasia, autosomal dominant, SOST-related disorder
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150640883 | Health Risk | Conflicting classifications of pathogenicity | Sclerosteosis 1, Sclerosteosis 1 |
| RS201706408 | Health Risk | Conflicting classifications of pathogenicity | Sclerosteosis 1, Sclerosteosis 1 |
| RS758794256 | Health Risk | Conflicting classifications of pathogenicity | Sclerosteosis 1, Sclerosteosis 1 |
| RS757158654 | Health Risk | Likely pathogenic | Sclerosteosis 1, Sclerosteosis 1 |
| RS104894644 | Health Risk | Pathogenic | Sclerosteosis 1, Sclerosteosis 1 |
| RS104894645 | Health Risk | Pathogenic | Sclerosteosis 1, Sclerosteosis 1 |
| RS377648601 | Health Risk | Pathogenic | Sclerosteosis 1, Sclerosteosis 1 |
| RS387906320 | Health Risk | Pathogenic | Sclerosteosis 1, Sclerosteosis 1 |
| RS387907169 | Health Risk | Pathogenic | Craniodiaphyseal dysplasia, autosomal dominant, SOST-related disorder |