Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: SHOX

Green List (high evidence)

SHOX (short stature homeobox)
EnsemblGeneIds (GRCh38): ENSG00000185960
EnsemblGeneIds (GRCh37): ENSG00000185960
OMIM: 312865, Gene2Phenotype
SHOX is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, radial ray abnormalities are a key feature.
Sources: Expert list
Created: 22 Jul 2020, 11:54 p.m.

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
Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
Phenotypes
  • Leri-Weill dyschondrosteosis, MIM# 127300
  • Langer mesomelic dysplasia, MIM#249700
Tags
SV/CNV
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
None
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shox has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHOX were changed from LANGER MESOMELIC DYSPLASIA; LERI-WEILL DYSCHONDROSTEOSIS to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700

28 Feb 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SHOX.

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHOX was added gene: SHOX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA; LERI-WEILL DYSCHONDROSTEOSIS