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TBX1 |
Gene Facts External Data Attribution
- HGNC Symbol
- TBX1 (HGNC:11592) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- T-box transcription factor 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- VCF
- Alias symbols
- CATCH22
- %HI
- 4.92(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.12(Read more about gnomAD pLI score)
- LOEUF
- 0.7(Read more about gnomAD LOEUF score)
- Cytoband
- 22q11.21
- Genomic Coordinates
-
GRCh37/hg19: chr22:19744226-19771116 NCBI Ensembl UCSC GRCh38/hg38: chr22:19756703-19783593 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001379200.1 ENST00000649276.2 (Read more about MANE Select)
- Function
- Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair f... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31275
ClinGen Curation ID:
CCID:007976
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Related Links:
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)
