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TBX20 T-box transcription factor 20

Gene ID: 57057, updated on 18-Sep-2024
Gene type: protein coding
Also known as: ASD4

Summary

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Atrial septal defect 4
MedGen: C1969657OMIM: 611363GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2023-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2023-05-10)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
7p14.2
Sequence:
Chromosome: 7; NC_000007.14 (35202430..35254100, complement)
Total number of exons:
9

Links

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