GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: HOXD11

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

2 reviews

Eleanor Williams (Genomics England Curator)

updated. Reviews were correct. Affects only internal panel
Created: 3 May 2019, 9:39 a.m.

Created: 3 May 2019, 9:39 a.m.

Panel version: 0.25

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, 11:52 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, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Syndactyly, type V 186300
Brachydactyly-syndactyly syndrome 610713
Brachydactyly, type E 113300
Synpolydactyly 1 186000
Brachydactyly, type D 113200

OMIM

142986

Clinvar variants

Variants in HOXD11

Penetrance

None

Panels with this gene

Skeletal dysplasia

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: HOXD11 was added gene: HOXD11 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HOXD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOXD11 were set to Syndactyly, type V 186300; Brachydactyly-syndactyly syndrome 610713; Brachydactyly, type E 113300; Synpolydactyly 1 186000; Brachydactyly, type D 113200

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: HOXD11