TBR1 Chromosome 2
T-box brain transcription factor 1
Upload your DNA to see your personal genotypes for variants in TBR1.
What This Gene Does
This gene is a member of a 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 numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
T-box transcription factors
Locus Type
gene with protein product
Location
2q24.2
Ensembl
ENSG00000136535
Associated Conditions (26)
Intellectual developmental disorder with autism and speech delay
Inborn genetic diseases
Moderate global developmental delay
Autistic behavior
Attention deficit hyperactivity disorder
Aggressive behavior
Severe global developmental delay
Marfanoid habitus and intellectual disability
10 conditions
Intellectual disability
Delayed fine motor development
Limb myoclonus
Gait disturbance
Seizure
TBR1-related disorder
See cases
Neurodevelopmental disorder
Atypical behavior
Aplasia/Hypoplasia of the corpus callosum
Abnormal brainstem MRI signal intensity
+6 more conditions
Key Variants
RS1559059936
Conflicting classifications of pathogenicity
Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay
Health Risk
RS201381014
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases
Health Risk
RS2468095250
Conflicting classifications of pathogenicity
Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
Health Risk
RS762334378
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases
Health Risk
RS780210539
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases
Health Risk
RS1553510171
Likely pathogenic
Moderate global developmental delay, Autistic behavior, Moderate global developmental delay
Health Risk
RS1553510182
Likely pathogenic
Attention deficit hyperactivity disorder, Moderate global developmental delay, Autistic behavior
Health Risk
RS1553510186
Likely pathogenic
Health Risk
RS1553510217
Likely pathogenic
Severe global developmental delay, Autistic behavior, Severe global developmental delay
Health Risk
RS1553510303
Likely pathogenic
Moderate global developmental delay, Moderate global developmental delay
Health Risk
RS1553510313
Likely pathogenic
Moderate global developmental delay, Autistic behavior, Moderate global developmental delay
Health Risk
RS1553510385
Likely pathogenic
Moderate global developmental delay, Autistic behavior, Marfanoid habitus and intellectual disability
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1559059936 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay |
| RS201381014 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases |
| RS2468095250 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS762334378 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases |
| RS780210539 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with autism and speech delay, Inborn genetic diseases |
| RS1553510171 | Health Risk | Likely pathogenic | Moderate global developmental delay, Autistic behavior, Moderate global developmental delay |
| RS1553510182 | Health Risk | Likely pathogenic | Attention deficit hyperactivity disorder, Moderate global developmental delay, Autistic behavior |
| RS1553510186 | Health Risk | Likely pathogenic | — |
| RS1553510217 | Health Risk | Likely pathogenic | Severe global developmental delay, Autistic behavior, Severe global developmental delay |
| RS1553510303 | Health Risk | Likely pathogenic | Moderate global developmental delay, Moderate global developmental delay |
| RS1553510313 | Health Risk | Likely pathogenic | Moderate global developmental delay, Autistic behavior, Moderate global developmental delay |
| RS1553510385 | Health Risk | Likely pathogenic | Moderate global developmental delay, Autistic behavior, Marfanoid habitus and intellectual disability |
| RS1553510472 | Health Risk | Likely pathogenic | — |
| RS1553510679 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1553510680 | Health Risk | Likely pathogenic | Moderate global developmental delay, Autistic behavior, Moderate global developmental delay |
| RS1553511216 | Health Risk | Likely pathogenic | Severe global developmental delay, Autistic behavior, Severe global developmental delay |
| RS1553511224 | Health Risk | Likely pathogenic | Severe global developmental delay, 10 conditions, Severe global developmental delay |
| RS1553511226 | Health Risk | Likely pathogenic | Severe global developmental delay, Autistic behavior, Intellectual disability |
| RS1574152522 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1684167000 | Health Risk | Likely pathogenic | Attention deficit hyperactivity disorder, Autistic behavior, Moderate global developmental delay |
| RS1684181938 | Health Risk | Likely pathogenic | Limb myoclonus, Severe global developmental delay, Autistic behavior |
| RS1684275626 | Health Risk | Likely pathogenic | Delayed fine motor development, Severe global developmental delay, Gait disturbance |
| RS2105278913 | Health Risk | Likely pathogenic | — |
| RS2468089980 | Health Risk | Likely pathogenic | — |
| RS2468090945 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2468090992 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS2468091705 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2468091740 | Health Risk | Likely pathogenic | TBR1-related disorder, TBR1-related disorder |
| RS2468092731 | Health Risk | Likely pathogenic | — |
| RS2468093706 | Health Risk | Likely pathogenic | TBR1-related disorder, TBR1-related disorder |
| RS2468098872 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS2468098918 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2468099183 | Health Risk | Likely pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS762713626 | Health Risk | Likely pathogenic | Moderate global developmental delay, Autistic behavior, Moderate global developmental delay |
| RS1231294235 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1553510215 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553510219 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1553510677 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1559060428 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1574152672 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1684130791 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1684180699 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS1684182454 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS2105278194 | Health Risk | Pathogenic | See cases, Intellectual developmental disorder with autism and speech delay, See cases |
| RS2105278359 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2105279320 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS2105280445 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS2105282575 | Health Risk | Pathogenic | — |
| RS2468090210 | Health Risk | Pathogenic | Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay |
| RS2468090214 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |