Skeletal dysplasia
Gene: HOXD13

HOXD13 (homeobox D13)
EnsemblGeneIds (GRCh38): ENSG00000128714
EnsemblGeneIds (GRCh37): ENSG00000128714
OMIM: 142989, Gene2Phenotype
HOXD13 is in 7 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mesomelic and rhizo-mesomelic dysplasias gp of SD, brachydactylies (without extraskeletal manifestations) gp of SD, polydactyly-syndactyly-triphalangism SD gp. Variants include polyAla expansion - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

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: HOXD13; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

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

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 7 Jul 2016, 9:03 a.m.

Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)
Created: 7 Jul 2016, 8:59 a.m.

Created: 7 Jul 2016, 8:59 a.m.

Panel version: 0.121

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:04 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
UKGTN
Emory Genetics Laboratory

Phenotypes

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

Tags

nucleotide-repeat-expansion

OMIM

142989

Clinvar variants

Variants in HOXD13

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Syndactyly, type V 186300; Brachydactyly-syndactyly syndrome 610713; Brachydactyly, type E 113300; Synpolydactyly 1 186000; Brachydactyly, type D 113200 for gene: HOXD13

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to HOXD13. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4