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STRs in panel
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Skeletal dysplasia

Gene: HOXD11

Red List (low evidence)

HOXD11 (homeobox D11)
EnsemblGeneIds (GRCh38): ENSG00000128713
EnsemblGeneIds (GRCh37): ENSG00000128713
OMIM: 142986, Gene2Phenotype
HOXD11 is in 1 panel

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

unilateral absent radius - one case reported with polyAla expansion; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted


  • Fleischman 2013 Blood 122:4837 (not in PubMed)

Mode of pathogenicity
Other - please provide details in the comments

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: HOXD11; Initial rating suggestion: amber
Created: 6 Mar 2019, 11:36 a.m.


Clinvar variants
Variants in HOXD11
  • Fleischman 2013 Blood 122:4837 (not in PubMed)
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene HOXD11 were changed from to Fleischman 2013 Blood 122:4837 (not in PubMed)

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: HOXD11 was added gene: HOXD11 was added to Skeletal dysplasia. Sources: NHS GMS Mode of inheritance for gene: HOXD11 was set to