DDG2P
Gene: HOXD13

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for HOXD13-related brachydactyly-syndactyly syndrome are definitive, monoallelic_autosomal and undetermined (PMIDs: 12414828, 12649808, 12900906, 17236141, 19060004, 8817328, 9758628). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00949.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12900906;12414828;17236141;8817328;19060004;9758628;12649808).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:610713.0; MONDO:0012544; HOXD13-related brachydactyly-syndactyly syndrome; BRACHYDACTYLY-SYNDACTYLY SYNDROME, OMIM:610713

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for all disorders: uncertain
Created: 19 Nov 2018, 11:30 a.m.

Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713
VACTERL ASSOCIATION 192350
BRACHYDACTYLY TYPE E 113300
SYNPOLYDACTYLY 1 186000
SYNDACTYLY TYPE 5 186300
BRACHYDACTYLY TYPE D 113200

OMIM

142989

Clinvar variants

Variants in HOXD13

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: HOXD13 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene HOXD13 was changed from Other - please provide details in the comments to Other Publications for gene: HOXD13 were updated from 12649808 to 12900906; 12414828; 17236141; 9758628; 12649808; 8817328; 19060004

29 Jan 2019, Gel status: 4