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  3. SHOX
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Intellectual disability

Gene: SHOX

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

5 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Although there is no ID phenotype associated to the confirmed phenotypes Leri-Weill dyschondrosteosis (AD) and Langer mesomelic dysplasia (AR), SHOX was considered as a candidate ID gene Glissen et al (2014) PMID: 24896178 (although was not confirmed) due to earlier reports of SHOX being associated to a contiguous gene syndrome where microdeletions of Xp22.3 were reported with intellectual disability (PMID: 2602357,10232745,12955766). Mode of inheritence for SHOX deficiency disorders are inherited in a pseudoautosomal dominant manner where a SHOX pathogenic variant responsible for SHOX deficiency can be located on either the X or Y chromosome of an affected male, or on either of the X chromosomes of an affected female (PMID:20301394). Currently not enough evidence to support ID phenotype and issue not being able at present to report genomic regions.
Created: 8 Jan 2018, 11:06 a.m.
Created: 8 Jan 2018, 11:06 a.m.

Panel version: 1.625

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LERI-WEILL DYSCHONDROSTEOSIS (LWD)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_gilissen_2014_known;in_UKGTN_v12 . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 8:23 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 10:28 p.m.

Panel version: 1.354

Lu Raymond (university of cambridge )

I don't know

Created: 23 Feb 2016, 10 a.m.

Panel version: 0.306

Richard Scott (Genomics England Curator)

Comment on list classification: Not an ID gene
Created: 8 Feb 2016, 12:49 a.m.
Created: 8 Feb 2016, 12:49 a.m.

Panel version: 0.236

Details

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

History Filter Activity

8 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SHOX were changed from SHOX deficiency (with Intellectual disability) to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582

8 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: SHOX was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

4 Nov 2021, Gel status: 1

Added Tag

Ivone Leong (Genomics England Curator)

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

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SHOX was set to Unknown Publications for gene SHOX was set to ['24896178', '2602357', '10232745', '12955766', '20301394']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SHOX was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SHOX was created by ellenmcdonagh