Radial dysplasia
Gene: SHOXComment on mode of inheritance: Updating mode of inheritance as 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, 12:01 p.m. | Last Modified: 12 Dec 2019, 12:01 p.m.
Panel Version: 1.7
Comment when marking as ready: Features include mesomelia owing to shortening, and perhaps bowing, of the radius and ulna. In addition to mutations, a large proportion of the ascertained cases to date have had deletions on the X-chromosome within the pseudo-autosomal region.Created: 11 May 2017, 2:02 p.m.
Mode of Inheritance sourced from OMIM: Langer mesomelic dysplasia, 249700 (LMD) is due to homozygous defect in SHOX. Leri-Weill dyschondrosteosis, 127300 (LWD) is due to a heterozygous mutation in SHOX or by deletion of the SHOX downstream regulatory region. Hence mode-of-inheritance marked as both biallelic and monoallelic.Created: 5 Dec 2016, 9:49 p.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 Leri-Weill dyschondrosteosis, 127300; bowing of the radius; radioulnar shortening; Langer mesomelic dysplasia, 249700; curved radius; dorsolateral bowed, short radii 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
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for gene SHOX were set to Leri-Weill dyschondrosteosis, 127300; bowing of the radius; radioulnar shortening; Langer mesomelic dysplasia, 249700; curved radius; dorsolateral bowed, short radii
SHOX was added to Radial dysplasiapanel. Source: Expert list
SHOX was created by rfoulger
SHOX was added to Radial dysplasiapanel. Sources: Other