Skeletal dysplasia
Gene: SOST
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 LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:37 a.m.
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.
Tier 1Created: 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
Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100; Sclerosteosis 1 269500 for gene: SOST
Source NHS GMS was added to SOST. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SOST were set to Craniodiaphyseal dysplasia, autosomal dominant 122860; Sclerosteosis 1 269500; Van Buchem disease 239100
Mode of inheritance for SOST was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SOST was added to Unexplained skeletal dysplasiapanel. Source: Expert
SOST was added to Unexplained skeletal dysplasiapanel. Sources:
SOST was created by sleigh