SOST |
- 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:
- sclerosteosis 1 Monarch
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)