Skeletal dysplasia
Gene: SHOX
Mesomelic and rhizo-mesomelic dysplasias gp of SD - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia 249700; Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582
Comment on mode of inheritance: Monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).Created: 12 Dec 2019, 12:03 p.m. | Last Modified: 12 Dec 2019, 12:03 p.m.
Panel Version: 1.292
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: SHOX; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:51 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:08 p.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Langer mesomelic dysplasia 249700; Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SHOX were changed from Langer mesomelic dysplasia 249700; Short stature, idiopathic familial 300582; Leri-Weill dyschondrosteosis 127300 to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening
Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes Langer mesomelic dysplasia 249700; Short stature, idiopathic familial 300582; Leri-Weill dyschondrosteosis 127300 for gene: SHOX
Source NHS GMS was added to SHOX. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SHOX were set to Langer mesomelic dysplasia 249700; Leri-Weill dyschondrosteosis 127300; Short stature, idiopathic familial 300582
Mode of inheritance for SHOX was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SHOX was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen SHOX was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory SHOX was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red
SHOX was added to Unexplained skeletal dysplasiapanel. Sources:
SHOX was created by sleigh