Limb disorders

Gene: SHOX

Would be good to update the mode of inheritance to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" 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, 12:02 p.m. | Last Modified: 12 Dec 2019, 12:02 p.m.

Panel Version: 2.0

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.

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.

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