HOXD13 Chromosome 2
Homeobox D13
Upload your DNA to see your personal genotypes for variants in HOXD13.
What This Gene Does
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000128714
Associated Conditions (13)
HOXD13-related disorder
6 conditions
Inborn genetic diseases
Synpolydactyly type 1
Brachydactyly-syndactyly syndrome
Synpolydactyly
Brachydactyly type E1
Syndactyly type 5
Brachydactyly type D
Brachydactyly type E
Skeletal dysplasia
Intellectual disability
Brachydactyly-syndactyly-oligodactyly syndrome
Key Variants
RS200067774
Conflicting classifications of pathogenicity
HOXD13-related disorder, HOXD13-related disorder
Health Risk
RS200750564
Conflicting classifications of pathogenicity
6 conditions, Inborn genetic diseases, Synpolydactyly type 1
Health Risk
RS28928892
Conflicting classifications of pathogenicity
Brachydactyly type D, Brachydactyly type E, Inborn genetic diseases
Health Risk
RS3832095
Conflicting classifications of pathogenicity
Brachydactyly-syndactyly syndrome, Brachydactyly-syndactyly syndrome
Health Risk
RS536639583
Conflicting classifications of pathogenicity
Synpolydactyly type 1, Brachydactyly type E1, Brachydactyly type D
Health Risk
RS748398268
Conflicting classifications of pathogenicity
Skeletal dysplasia, Skeletal dysplasia
Health Risk
RS756844068
Conflicting classifications of pathogenicity
Brachydactyly type D, Syndactyly type 5, Synpolydactyly type 1
Health Risk
RS757175860
Conflicting classifications of pathogenicity
Health Risk
RS767527649
Conflicting classifications of pathogenicity
Intellectual disability, Intellectual disability
Health Risk
RS1432063993
Likely pathogenic
Health Risk
RS771082552
Likely pathogenic
Brachydactyly-syndactyly syndrome, Brachydactyly-syndactyly syndrome
Health Risk
RS104893635
Pathogenic
Syndactyly type 5, Syndactyly type 5
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200067774 | Health Risk | Conflicting classifications of pathogenicity | HOXD13-related disorder, HOXD13-related disorder |
| RS200750564 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, Inborn genetic diseases, Synpolydactyly type 1 |
| RS28928892 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type D, Brachydactyly type E, Inborn genetic diseases |
| RS3832095 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly-syndactyly syndrome, Brachydactyly-syndactyly syndrome |
| RS536639583 | Health Risk | Conflicting classifications of pathogenicity | Synpolydactyly type 1, Brachydactyly type E1, Brachydactyly type D |
| RS748398268 | Health Risk | Conflicting classifications of pathogenicity | Skeletal dysplasia, Skeletal dysplasia |
| RS756844068 | Health Risk | Conflicting classifications of pathogenicity | Brachydactyly type D, Syndactyly type 5, Synpolydactyly type 1 |
| RS757175860 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767527649 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Intellectual disability |
| RS1432063993 | Health Risk | Likely pathogenic | — |
| RS771082552 | Health Risk | Likely pathogenic | Brachydactyly-syndactyly syndrome, Brachydactyly-syndactyly syndrome |
| RS104893635 | Health Risk | Pathogenic | Syndactyly type 5, Syndactyly type 5 |
| RS1166147565 | Health Risk | Pathogenic | — |
| RS121912541 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1, Synpolydactyly type 1 |
| RS1553517123 | Health Risk | Pathogenic | — |
| RS1574943406 | Health Risk | Pathogenic | Brachydactyly type E1, Brachydactyly type D, Syndactyly type 5 |
| RS2105378889 | Health Risk | Pathogenic | — |
| RS2105379203 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |
| RS2468153773 | Health Risk | Pathogenic | — |
| RS28928891 | Health Risk | Pathogenic | Brachydactyly type D, Brachydactyly type E, Brachydactyly type D |
| RS28933082 | Health Risk | Pathogenic | Synpolydactyly type 1, Brachydactyly type E1, Synpolydactyly type 1 |
| RS760539494 | Health Risk | Pathogenic | HOXD13-related disorder, Syndactyly type 5, HOXD13-related disorder |
| RS764838478 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |
| RS775525473 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |
| RS875989842 | Health Risk | Pathogenic | Brachydactyly-syndactyly-oligodactyly syndrome, Brachydactyly-syndactyly-oligodactyly syndrome |
| RS878854343 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |
| RS878854344 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |
| RS878854345 | Health Risk | Pathogenic | Syndactyly type 5, Synpolydactyly type 1, Syndactyly type 5 |
| RS878854346 | Health Risk | Pathogenic | Brachydactyly-syndactyly syndrome, HOXD13-related disorder, Brachydactyly-syndactyly syndrome |
| RS878854400 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |
| RS879255265 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |
| RS886037831 | Health Risk | Pathogenic | Synpolydactyly type 1, Synpolydactyly type 1 |