Osteopetrosis
Gene: SOST
SOST (sclerostin)
EnsemblGeneIds (GRCh38): ENSG00000167941
EnsemblGeneIds (GRCh37): ENSG00000167941
OMIM: 605740, Gene2Phenotype
SOST is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000167941
EnsemblGeneIds (GRCh37): ENSG00000167941
OMIM: 605740, Gene2Phenotype
SOST is in 9 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Severe bone dysplasia characterised by hyperostosis and sclerosis of bones (especially skull)
Supportive mouse model recapitulating human phenotype was conducted
PMID: 36481973 - homozygous variant in SOST (p.Gln24Ter) was identified in an affected proband and in heterozygous state in other family members. The variant is present in gnomAD v4.1 (NFE PopMax AF - 0.00001356 - rare enough for AR condition)
PMID: 35208525 - 25F presenting with high bone mineral density and thickening of the skull identified with rare homozygous variant in SOST (c.387delG, p.Asp131ThrfsTer116)Created: 3 Dec 2024, 3:18 a.m. | Last Modified: 3 Dec 2024, 3:18 a.m.
Panel Version: 0.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sclerosteosis 1 MONDO:0010016
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 605740
- Clinvar variants
- Variants in SOST
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SOST was added gene: SOST was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOST was set to Unknown