ClinGen Dosage Sensitivity Curation Page

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SOST

  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

SOST mutations are associated with the autosomal recessive forms of Sclerosteosis (269500) and Van Buchem disease (239100). PMID:21221996 Also, note that two missense mutations in SOST have been associated with an autosomal dominant form of craniodiaphyseal dysplasia (122860). A de novo Val21Met change was detected in a proband with CDD. The second change (Val21Leu) was detected in a previously reported proband (PMID:17853455). Parental samples were not available, but the mutation was not found in 142 normal controls. Authors suggest a dominant negative effect based on secretion studies and since carriers for mutations associated with Sclerosteosis and Van Buchem disease are normal.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity