Limb disorders
Gene: HOXD13

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

2 reviews

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: Imported from Unexplained skeletal dysplasia 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: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Victorian Clinical Genetics Services
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
UKGTN
Expert Review Green
Expert list
London South East RGC GSTT
Viapath

Phenotypes

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

OMIM

142989

Clinvar variants

Variants in HOXD13

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

13 Aug 2018, Gel status: 4