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Prepair 1000+

Gene: SHOX

Amber List (moderate evidence)

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Gene is located in the pseudoautosomal region on both X and Y chromosome. Condition does not completely fit in with autosomal recessive inheritance

Gene Reviews: 80%-90% of individuals with SHOX deficiency have deletions that vary in size from an intragenic single-exon deletion to (more commonly) 10 kb to 2.5 Mb or more
Created: 14 Jul 2022, 5:26 a.m. | Last Modified: 14 Jul 2022, 5:26 a.m.
Panel Version: 0.40

Mode of inheritance
Other

Phenotypes
Langer mesomelic dysplasia (MIM#249700), Leri-Weill dyschondrosteosis (MIM#127300), Short stature, idiopathic familial (MIM#300582)

Details

Mode of Inheritance
Other
Sources
  • Expert Review Amber
  • Mackenzie's Mission
Phenotypes
  • Langer mesomelic dysplasia, 249700 (3)
Tags
SV/CNV
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
None
Panels with this gene

History Filter Activity

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shox has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHOX was changed from BIALLELIC, autosomal or pseudoautosomal to Other

14 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shox has been classified as Amber List (Moderate Evidence).

14 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)