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  3. SHOX
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IUGR and IGF abnormalities

Gene: SHOX

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

3 reviews

Eleanor Williams (Genomics England Curator)

Comment 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, 12:16 p.m. | Last Modified: 12 Dec 2019, 12:16 p.m.
Panel Version: 1.30
Created: 12 Dec 2019, 12:16 p.m.
Last Modified: 12 Dec 2019, 12:16 p.m.
Panel version: 1.30

Philip Murray (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Peter Clayton (University of Manchester)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Langer mesomelic dysplasia, OMIM:249700 (PR)
  • Leri-Weill dyschondrosteosis, OMIM:127300 (PD)
  • Short stature, idiopathic familial, OMIM:300582
Tags
Pseudoautosomal region 1
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Dec 2022, Gel status: 3

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

4 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Pseudoautosomal region 1 tag was added to gene: SHOX.

12 Dec 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (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

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for SHOX was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

25 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for SHOX was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SHOX was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory