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Test MOI validation panel - do not edit

Gene: SHOX

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

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Allowed values MOI test - gene on chr X but in pseudoautosomal region so can have different MOI
  • Across panels tests
Tags
Pseudoautosomal region 1
OMIM
312865
Clinvar variants
Variants in SHOX
Penetrance
None
Panels with this gene

History Filter Activity

4 Nov 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

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

20 Oct 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SHOX were changed from Test - gene on chr X but in psuedoautosomal region so can have other MOI to Allowed values MOI test - gene on chr X but in pseudoautosomal region so can have different MOI; Across panels tests

19 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

19 Aug 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: SHOX was added gene: SHOX was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SHOX were set to Test - gene on chr X but in psuedoautosomal region so can have other MOI