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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Langer mesomelic dysplasia are definitive, monoallelic_X_hemizygous and loss of function (PMIDs: 11889214, 12116254, 17935511, 9590292). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00460. The DDG2P confidence category, allelic requirement and molecular mechanism for SHOX-related Leri-Weill dyschondrosteosis are definitive, monoallelic_X_heterozygous and loss of function (PMIDs: 11030412, 11403039, 15356038, 21712857, 9590293). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01278.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease LANGER MESOMELIC DYSPLASIA, OMIM:249700 is definitive. The allelic requirement and mutation consequence are monoallelic_X_hem and absent gene product (PMIDs: 12116254;9590292;17935511;11889214). The DDG2P confidence category for the disease LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300 is definitive. The allelic requirement and mutation consequence are monoallelic_X_het and absent gene product (PMIDs: 15356038;11403039;11030412;9590293;21712857).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
OMIM:127300.0; SHOX-related Leri-Weill dyschondrosteosis; LERI-WEILL DYSCHONDROSTEOSIS, OMIM:127300; OMIM:249700.0; LANGER MESOMELIC DYSPLASIA, OMIM:249700; MONDO:0009588; MONDO:0007481; SHOX-related Langer mesomelic dysplasia

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

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, 12:33 p.m. | Last Modified: 12 Dec 2019, 12:33 p.m.
Panel Version: 1.180
Created: 12 Dec 2019, 12:33 p.m.
Last Modified: 12 Dec 2019, 12:33 p.m.
Panel version: 1.180

Rebecca Foulger (Genomics England curator)

I don't know

Due to a Gene2Phenotype update, the current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.
Created: 12 Dec 2019, 11:35 a.m. | Last Modified: 12 Dec 2019, 1:16 p.m.
Panel Version: 1.180
Original DDG2P rating: confirmed (for all listed disorders). Multiple MOIs in DD-G2P download: monoallelic and biallelic.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.
Last Modified: 12 Dec 2019, 1:16 p.m.
Panel version: 1.179

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • LERI-WEILL DYSCHONDROSTEOSIS 127300
  • LANGER MESOMELIC DYSPLASIA 249700
Tags
Pseudoautosomal region 1
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene SHOX was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: SHOX were updated from 9590293; 15356038; 11403039; 11030412; 21712857 to 9590292; 11403039; 12116254; 17935511; 9590293; 11889214; 15356038; 21712857; 11030412

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

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 for gene: SHOX Publications for gene SHOX were changed from 17935511; 9590292; 11889214; 12116254 to 9590293; 15356038; 11403039; 11030412; 21712857

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SHOX was added gene: SHOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SHOX were set to 17935511; 9590292; 11889214; 12116254 Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA 249700