Radial dysplasia

Gene: SHOX

Green List (high evidence)

SHOX (short stature homeobox)
EnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 10 panels

4 reviews

Helen Brittain (Genomics England Curator)

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.

Rebecca Foulger (Genomics England curator)

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.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 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.

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
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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Leri-Weill dyschondrosteosis, 127300
  • bowing of the radius
  • radioulnar shortening
  • Langer mesomelic dysplasia, 249700
  • curved radius
  • dorsolateral bowed, short radii
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
Complete
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

5 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SHOX was added to Radial dysplasiapanel. Source: Expert list

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SHOX was created by rfoulger

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SHOX was added to Radial dysplasiapanel. Sources: Other