Limb disordersGene: 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.
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.
Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Ana Beleza: Tier 1
Source Expert Review Green was added to SHOX. Added phenotypes Langer mesomelic dysplasia, 249700; dorsolateral bowed, short radii; bowing of the radius; curved radius; radioulnar shortening; Leri-Weill dyschondrosteosis, 127300 for gene: SHOX
gene: SHOX was added gene: SHOX was added to Limb disorders. Sources: Other Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700; radioulnar shortening; bowing of the radius; Leri-Weill dyschondrosteosis, 127300