Skeletal dysplasia
Gene: HOXD11

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

Publications

Fleischman 2013 Blood 122:4837 http://www.bloodjournal.org/content/122/21/4837 (not in PubMed)

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

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.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Details

Sources

NHS GMS

OMIM

142986

Clinvar variants

Variants in HOXD11

Penetrance

None

Publications

Fleischman 2013 Blood 122:4837 http://www.bloodjournal.org/content/122/21/4837 (not in PubMed)

Panels with this gene

Skeletal dysplasia

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 http://www.bloodjournal.org/content/122/21/4837 (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

Skeletal dysplasia Gene: HOXD11