• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SOST (HGNC:13771) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
sclerostin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
VBCH, DAND6
%HI
25.59(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.87(Read more about gnomAD pLI score)
LOEUF
0.45(Read more about gnomAD LOEUF score)
Cytoband
17q21.31
Genomic Coordinates
GRCh37/hg19: chr17:41831106-41836159 NCBI Ensembl UCSC
GRCh38/hg38: chr17:43753738-43758791 NCBI Ensembl UCSC
MANE Select Transcript
NM_025237.3 ENST00000301691.3 (Read more about MANE Select)
Function
Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation. {ECO:0000269|PubMed:15908424}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29515
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence 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 (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)