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Skeletal dysplasia

Gene: SOST

Green List (high evidence)

SOST (sclerostin)
EnsemblGeneIds (GRCh38): ENSG00000167941
EnsemblGeneIds (GRCh37): ENSG00000167941
OMIM: 605740, Gene2Phenotype
SOST is in 5 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

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.

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.

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

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SOST were set to Craniodiaphyseal dysplasia, autosomal dominant 122860; Sclerosteosis 1 269500; Van Buchem disease 239100

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SOST was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SOST was added to Unexplained skeletal dysplasiapanel. Source: Expert

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SOST was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SOST was created by sleigh