DLX5 Chromosome 7
Distal-less homeobox 5
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What This Gene Does
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
7q21.3
Ensembl
ENSG00000105880
Associated Conditions (4)
Inborn genetic diseases
DLX5-related disorder
Split hand-foot malformation 1
Split hand-foot malformation 1 with sensorineural hearing loss
Key Variants
RS199567160
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2485516681
Likely pathogenic
DLX5-related disorder, DLX5-related disorder
Health Risk
RS2485520889
Likely pathogenic
Split hand-foot malformation 1, Split hand-foot malformation 1
Health Risk
RS2485521415
Likely pathogenic
DLX5-related disorder, DLX5-related disorder
Health Risk
RS1481657641
Pathogenic
Health Risk
RS387906737
Pathogenic
Split hand-foot malformation 1 with sensorineural hearing loss, Split hand-foot malformation 1 with sensorineural hearing loss
Health Risk
RS398122527
Pathogenic
Split hand-foot malformation 1, Split hand-foot malformation 1
Health Risk
RS587777842
Pathogenic
Split hand-foot malformation 1, Split hand-foot malformation 1
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199567160 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2485516681 | Health Risk | Likely pathogenic | DLX5-related disorder, DLX5-related disorder |
| RS2485520889 | Health Risk | Likely pathogenic | Split hand-foot malformation 1, Split hand-foot malformation 1 |
| RS2485521415 | Health Risk | Likely pathogenic | DLX5-related disorder, DLX5-related disorder |
| RS1481657641 | Health Risk | Pathogenic | — |
| RS387906737 | Health Risk | Pathogenic | Split hand-foot malformation 1 with sensorineural hearing loss, Split hand-foot malformation 1 with sensorineural hearing loss |
| RS398122527 | Health Risk | Pathogenic | Split hand-foot malformation 1, Split hand-foot malformation 1 |
| RS587777842 | Health Risk | Pathogenic | Split hand-foot malformation 1, Split hand-foot malformation 1 |