TBX18 Chromosome 6
T-box transcription factor 18
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What This Gene Does
This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
6q14.3
Ensembl
ENSG00000112837
Associated Conditions (6)
Inborn genetic diseases
Congenital anomalies of kidney and urinary tract 2
TBX18-related disorder
Ovarian serous cystadenocarcinoma
Melanoma
Congenital anomaly of kidney and urinary tract
Key Variants
RS141017435
Conflicting classifications of pathogenicity
Inborn genetic diseases, Congenital anomalies of kidney and urinary tract 2, Inborn genetic diseases
Health Risk
RS144467216
Conflicting classifications of pathogenicity
TBX18-related disorder, Ovarian serous cystadenocarcinoma, Melanoma
Health Risk
RS375648531
Conflicting classifications of pathogenicity
TBX18-related disorder, Inborn genetic diseases, TBX18-related disorder
Health Risk
RS556991020
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS886041719
Conflicting classifications of pathogenicity
Health Risk
RS748043014
Likely pathogenic
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
Health Risk
RS1384411524
Pathogenic
Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2
Health Risk
RS2127879625
Pathogenic
Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2
Health Risk
RS797045022
Pathogenic
Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2
Health Risk
RS869320679
Pathogenic/Likely pathogenic
Congenital anomalies of kidney and urinary tract 2, Congenital anomaly of kidney and urinary tract, Congenital anomalies of kidney and urinary tract 2
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141017435 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital anomalies of kidney and urinary tract 2, Inborn genetic diseases |
| RS144467216 | Health Risk | Conflicting classifications of pathogenicity | TBX18-related disorder, Ovarian serous cystadenocarcinoma, Melanoma |
| RS375648531 | Health Risk | Conflicting classifications of pathogenicity | TBX18-related disorder, Inborn genetic diseases, TBX18-related disorder |
| RS556991020 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886041719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748043014 | Health Risk | Likely pathogenic | Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS1384411524 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2 |
| RS2127879625 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2 |
| RS797045022 | Health Risk | Pathogenic | Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2 |
| RS869320679 | Health Risk | Pathogenic/Likely pathogenic | Congenital anomalies of kidney and urinary tract 2, Congenital anomaly of kidney and urinary tract, Congenital anomalies of kidney and urinary tract 2 |