GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SOST

SOST (sclerostin)
EnsemblGeneIds (GRCh38): ENSG00000167941
EnsemblGeneIds (GRCh37): ENSG00000167941
OMIM: 605740, Gene2Phenotype
SOST is in 4 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Other sclerosing bone disorders gp of SD -several cases reported with different OMIM disorders.van Buchem - 52kb del downstream from gene, sclerosteosis LOF, craniodiaphyseal dysplasia - V21 codon mutations.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Craniodiaphyseal dysplasia, autosomal dominant 122860; Sclerosteosis 1 269500; Van Buchem disease 239100

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Craniodiaphyseal dysplasia, autosomal dominant 122860
Van Buchem disease 239100
Sclerosteosis 1 269500

OMIM

605740

Clinvar variants

Variants in SOST

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SOST was added gene: SOST was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: SOST