Growth failure in early childhood
Gene: SHOXEnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 10 panels
4 reviews
Catherine Snow (Genomics England)
The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.
Panel Version: 2.33
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: Previous phenotypes: Dorsolateral bowed, short radii;Bowing and curving of radius;Radioulnar shorteningCreated: 26 Mar 2024, 4:11 p.m. | Last Modified: 26 Mar 2024, 4:11 p.m.
Panel Version: 3.53
There is sufficient evidence linking this gene with various disorders including short stature (MIM# 249700, 127300 and 300582). However, the Endocrine Specialist Group previously determined (2019) that the phenotype was not within the scope of this panel and therefore the decision was made to classify it as Red. This was likely due to the age of onset typically being outside the scope of this clinical indication (height ≤−3 SDS at the age of at least 2 years). Some cases have been reported with a mildly reduced birth length (PMID: 14513876; 15356038) and given the progressive decline in height SDS with age, it may be justified to include SHOX on this panel. Although in most cases growth failure became apparent around school age.
Will flag for GMS expert review by the Endocrine Specialist Group to reach consensus as to whether this gene is appropriate for inclusion.Created: 5 Jan 2023, 4:47 p.m. | Last Modified: 5 Jan 2023, 4:47 p.m.
Panel Version: 2.12
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Helen Storr. Mode of inheritance: Haploinsufficiency. Phenotypes: The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the short stature homeobox-containing gene (SHOX), ranges from Leri-Weill dyschondrosteosis (LWD) at the severe end of the spectrum to nonspecific short stature at the mild end of the spectrum. SHOX deficiency test can be completed separately but would be logical to include on this panel as pathogenic SHOX variants have been described as well as insetions/deletions/duplications. Important as confirmed defect confers eligibility for hGh therapy. Publications: Well established - severe defects rare, milder defects more prevalent. Mechansim: SHOX is fundemental for the growth and development of bones / skeleton. Penetrance: Full penetrance.Created: 22 Dec 2022, 11:07 a.m. | Last Modified: 22 Dec 2022, 11:07 a.m.
Panel Version: 2.5
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Langer mesomelic dysplasia, OMIM:249700 (PR)
- Leri-Weill dyschondrosteosis, OMIM:127300 (PD)
- Short stature, idiopathic familial, OMIM:300582
- Tags
- OMIM
- 312865
- Clinvar variants
- Variants in SHOX
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SHOX were changed from 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 to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_expert_review was removed from gene: SHOX.
Added New Source, Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to SHOX. Source NHS GMS was added to SHOX. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_expert_review tag was added to gene: SHOX.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SHOX were changed from 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
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)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 Tag
Ivone Leong (Genomics England Curator)Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to SHOX. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: SHOX was added gene: SHOX was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal