Skeletal dysplasia
Gene: SOST

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

4 reviews

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, 11:44 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, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SOST; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:10 p.m.

Created: 21 Jun 2016, 1:10 p.m.

Panel version: 0.82

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:08 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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert

Phenotypes

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

OMIM

605740

Clinvar variants

Variants in SOST

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500 for gene: SOST

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SOST. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4