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CHDGene:ENSG00000164532

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TBX20

Non syndromic associated CHDs overview

pChart

[edit] Synopsys

Thus far, one study showed the presence of mutations in this gene in 2 families with a variety of heart defects: septal defects, and mitral valve defects as well as cardiomyopathies. This transcription factor is a member of the family of TATA-box binding proteins, and several members of this family have been implicated in heart development: mutations in TBX1 and TBX5 are associated with human (mostly syndromic) heart defects, while TBX2 and TBX3 have been implicated in heart development through studies in animal models.

External references for TBX20

Known phenotypes for TBX20

Non-syndromic

  
 ASD edit association
  • Support: confirmed: 2 or more independent reports > 1% incidence
  • References: PMID:17668378 (population study with screening of similar CHD patients and normal controls modify) PMID:19762328 (unspecified or mispecified modify)
  • Inheritence: autosomal dominant inheritance in 2 small families. Variable expression of mutations, 3 out 7 mutation carriers have an ASD.
  • Incidence: Rare cause of ASD (Kirk EP et al., 2007).
  • Comments:
  • Studies: (2)
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 Mitral valvar stenosis - congenital edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:17668378 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritence: autosomal dominant inheritance in 2 small families. Variable expression.
  • Incidence:
  • Comments:
  • Studies: (1)
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Add another study.


  
 VSD edit association
  • Support: unconfirmed: a single case report
  • References: PMID:17668378 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritence: autosomal dominant inheritance in 2 small families. Variable expression of mutations, 1 family member has a VSD.
  • Incidence: Rare cause of VSD, since mutations were absent in 63 patients with VSD
  • Comments:
  • Studies: (1)
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Syndromic

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Protein interaction partners

Patients reports for TBX20


Translocations

Region References OMIM Comments

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Mutations in TBX20

Mutation (DNA) Mutation (peptide) CHD Reference Other features Inheritence Additional info.
edit 374C>G (NM_020417) I121M ASD PMID:19762328 Isolated atrial septal defect type secundum Dominant Familial
show
edit 456C>G I152M ASD PMID:17668378 Dominant Familial
show
edit 456C>G I152M ASD PMID:17668378 Dominant Familial
show
edit 583C>T Q195X ASD PMID:17668378 Dominant Familial
show

Representation of protein TBX20

Heart expression domain of TBX20

No specified expression domain for TBX20

Add a new domain where gene TBX20 is expressed

Associated CHDs found by automated text mining

AGeneApart Method

  • Totally anomalous pulmonary venous connection (04.08.05) (sig = 2.951)
[ show ]
  • Atrial septum defect (05.04.01) (sig = 2.162)
[ show ]
  • Tetralogy of Fallot (01.01.01) (sig = 1.953)
[ show ]


Huge Navigator (Genopedia)

See complete results on Genopedia (including non CHD)

Heart defects
  • 4-31 congenital anomalies of the heart


This page contributors

  • Jeroen Breckpot - CME Leuven (Belgium) (association, study)