TBX22 Chromosome X
T-box transcription factor 22
Upload your DNA to see your personal genotypes for variants in TBX22.
What This Gene Does
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000122145
Associated Conditions (5)
TBX22-related disorder
Abruzzo-Erickson syndrome
Cleft palate with or without ankyloglossia
X-linked
Cleft palate with ankyloglossia
Key Variants
RS1385589233
Conflicting classifications of pathogenicity
TBX22-related disorder, TBX22-related disorder
Health Risk
RS200060292
Conflicting classifications of pathogenicity
Abruzzo-Erickson syndrome, Cleft palate with or without ankyloglossia, X-linked
Health Risk
RS35602350
Conflicting classifications of pathogenicity
TBX22-related disorder, Cleft palate with or without ankyloglossia, X-linked
Health Risk
RS373817537
Conflicting classifications of pathogenicity
TBX22-related disorder, TBX22-related disorder
Health Risk
RS746947861
Conflicting classifications of pathogenicity
Cleft palate with or without ankyloglossia, X-linked, Cleft palate with or without ankyloglossia
Health Risk
RS779543847
Conflicting classifications of pathogenicity
Cleft palate with or without ankyloglossia, X-linked, Cleft palate with or without ankyloglossia
Health Risk
RS104894945
Likely pathogenic
Cleft palate with ankyloglossia, Cleft palate with or without ankyloglossia, X-linked
Health Risk
RS1555993323
Likely pathogenic
Health Risk
RS1923859591
Likely pathogenic
Health Risk
RS2147600340
Likely pathogenic
Health Risk
RS2519860240
Likely pathogenic
Cleft palate with or without ankyloglossia, X-linked, Cleft palate with or without ankyloglossia
Health Risk
RS104894943
Pathogenic
Cleft palate with ankyloglossia, Cleft palate with ankyloglossia
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1385589233 | Health Risk | Conflicting classifications of pathogenicity | TBX22-related disorder, TBX22-related disorder |
| RS200060292 | Health Risk | Conflicting classifications of pathogenicity | Abruzzo-Erickson syndrome, Cleft palate with or without ankyloglossia, X-linked |
| RS35602350 | Health Risk | Conflicting classifications of pathogenicity | TBX22-related disorder, Cleft palate with or without ankyloglossia, X-linked |
| RS373817537 | Health Risk | Conflicting classifications of pathogenicity | TBX22-related disorder, TBX22-related disorder |
| RS746947861 | Health Risk | Conflicting classifications of pathogenicity | Cleft palate with or without ankyloglossia, X-linked, Cleft palate with or without ankyloglossia |
| RS779543847 | Health Risk | Conflicting classifications of pathogenicity | Cleft palate with or without ankyloglossia, X-linked, Cleft palate with or without ankyloglossia |
| RS104894945 | Health Risk | Likely pathogenic | Cleft palate with ankyloglossia, Cleft palate with or without ankyloglossia, X-linked |
| RS1555993323 | Health Risk | Likely pathogenic | — |
| RS1923859591 | Health Risk | Likely pathogenic | — |
| RS2147600340 | Health Risk | Likely pathogenic | — |
| RS2519860240 | Health Risk | Likely pathogenic | Cleft palate with or without ankyloglossia, X-linked, Cleft palate with or without ankyloglossia |
| RS104894943 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS104894944 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS104894946 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS1602410858 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS1602410916 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS1602411954 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS1602414282 | Health Risk | Pathogenic | Cleft palate with or without ankyloglossia, X-linked, Cleft palate with or without ankyloglossia |
| RS2519860231 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |
| RS28935177 | Health Risk | Pathogenic | Cleft palate with ankyloglossia, Cleft palate with ankyloglossia |