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TBX20 T-box 20

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
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2013-04-26)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
7p14.3
Sequence:
Chromosome: 7; NC_000007.14 (35202430..35254100, complement)
Total number of exons:
8

Links

  • BioSystems
    BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView
  • SNP: VarView
    Related Clinical SNP

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