Gene Facts External Data Attribution

HGNC Symbol
SHOX (HGNC:10853) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SHOX homeobox
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PHOG, GCFX, SS, SHOXY, SHOX1
%HI
76.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.67(Read more about gnomAD pLI score)
LOEUF
0.52(Read more about gnomAD LOEUF score)
Cytoband
Xp22.33 and Yp11.32
Genomic Coordinates
GRCh37/hg19: chrY:535079-570146 NCBI Ensembl UCSC
GRCh38/hg38: chrY:624344-659411 NCBI Ensembl UCSC
MANE Select Transcript
NM_000451.4 ENST00000686671.1 (Read more about MANE Select)
Function
Controls fundamental aspects of growth and development. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25281
Curation Status:
Under Group Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Assoc. with Reduced Penetrance:
Under Group Review
The penetrance of SHOX deficiency is high, but its clinical expression is very variable becoming more pronounced with age and being more severe in females (PMID: 21325865)
Last Evaluated:
Under Group Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)