DLX3 Chromosome 17

Distal-less homeobox 3
13 variants 13 Health Risk

Upload your DNA to see your personal genotypes for variants in DLX3.

What This Gene Does
Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
NKL subclass homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
17q21.33
Ensembl
ENSG00000064195
Associated Conditions (7)
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
DLX3-related disorder
Inborn genetic diseases
Uterine leiomyoma
Tricho-dento-osseous syndrome
Amelogenesis imperfecta
Peripheral pulmonary artery stenosis
Key Variants
RS142563930
Conflicting classifications of pathogenicity
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, DLX3-related disorder, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS145424773
Conflicting classifications of pathogenicity
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS147702169
Conflicting classifications of pathogenicity
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Inborn genetic diseases, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS148713638
Conflicting classifications of pathogenicity
Health Risk
RS569475772
Conflicting classifications of pathogenicity
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS745373565
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772972332
Conflicting classifications of pathogenicity
Uterine leiomyoma, Tricho-dento-osseous syndrome, Uterine leiomyoma
Health Risk
RS1057518764
Likely pathogenic
Amelogenesis imperfecta, Peripheral pulmonary artery stenosis, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS2544347059
Likely pathogenic
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS1555617226
Pathogenic
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Tricho-dento-osseous syndrome, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS387906405
Pathogenic
Tricho-dento-osseous syndrome, DLX3-related disorder, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Health Risk
RS2144182867
Pathogenic/Likely pathogenic
Tricho-dento-osseous syndrome, Inborn genetic diseases, Tricho-dento-osseous syndrome
Health Risk
All Variants (13)
RSID Category Clinical Significance Conditions
RS142563930 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, DLX3-related disorder, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS145424773 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS147702169 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Inborn genetic diseases, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS148713638 Health Risk Conflicting classifications of pathogenicity
RS569475772 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS745373565 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS772972332 Health Risk Conflicting classifications of pathogenicity Uterine leiomyoma, Tricho-dento-osseous syndrome, Uterine leiomyoma
RS1057518764 Health Risk Likely pathogenic Amelogenesis imperfecta, Peripheral pulmonary artery stenosis, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS2544347059 Health Risk Likely pathogenic Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS1555617226 Health Risk Pathogenic Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Tricho-dento-osseous syndrome, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS387906405 Health Risk Pathogenic Tricho-dento-osseous syndrome, DLX3-related disorder, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS2144182867 Health Risk Pathogenic/Likely pathogenic Tricho-dento-osseous syndrome, Inborn genetic diseases, Tricho-dento-osseous syndrome
RS387906406 Health Risk Pathogenic/Likely pathogenic Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Tricho-dento-osseous syndrome, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Sign Up to Analyze Your DNA Log In