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CHDGene:ENSG00000008196

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TFAP2B

Non syndromic associated CHDs overview

Patent arterial duct (PDA) (13, 100%)

Syndromic associated CHDs overview

Aortic coarctation (1, 2.3%)
Bicuspid aortic valve (1, 2.3%)
VSD (2, 4.5%)
Patent arterial duct (PDA) (40, 90.9%)

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External references for TFAP2B

Known phenotypes for TFAP2B

Non-syndromic

  
 Patent arterial duct (PDA) edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:18752453 (single case report modify)
  • Inheritence: Mutations in TFAP2B are infrequently described in families with nonsyndromic patent arterial duct.
  • Incidence: rare
  • Comments:
  • Studies: (2)
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Syndromic

  
 Aortic coarctation edit association
  • Support: unconfirmed: a single case report
  • References: PMID:15684060 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Char syndrome (OMIM:169100) is an autosomal dominant disorder consisting of patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
  • Incidence:
  • Comments:
  • Studies: (1)
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 Bicuspid aortic valve edit association
  • Support: unconfirmed: a single case report
  • References: PMID:15684060 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Char syndrome (OMIM:169100) is an autosomal dominant disorder consisting of patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
  • Incidence:
  • Comments:
  • Studies: (1)
[ show ]
Add another study.


  
 Patent arterial duct (PDA) edit association
  • Support: confirmed: 2 or more independent reports > 1% incidence
  • References: PMID:11505339 (population study with screening of similar CHD patients and normal controls modify) PMID:10802654 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Char syndrome (OMIM:169100) is an autosomal dominant disorder consisting of patent ductus arteriosus with facial dysmorphism and abnormal fifth digits.
  • Incidence:
  • Comments:
  • Studies: (3)
[ show ]
Add another study.


  
 VSD edit association
  • Support: confirmed: 2 or more independent reports > 1% incidence
  • References: PMID:11505339 (population study with screening of similar CHD patients and normal controls modify) PMID:10802654 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Char syndrome (OMIM:169100) is an autosomal dominant disorder consisting of patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
  • Incidence:
  • Comments:
  • Studies: (2)
[ show ]
Add another study.


Add another phenotype.

Protein interaction partners


Patients reports for TFAP2B


Translocations

Region References OMIM Comments

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Mutations in TFAP2B

Mutation (DNA) Mutation (peptide) CHD Reference Other features Inheritence Additional info.

Representation of protein TFAP2B

Heart expression domain of TFAP2B

No specified expression domain for TFAP2B

Add a new domain where gene TFAP2B is expressed

Associated CHDs found by automated text mining

AGeneApart Method

  • Patent arterial duct (PDA) (09.27.21) (sig = 9.054)
[ show ]


Huge Navigator (Genopedia)

See complete results on Genopedia (including non CHD)

Heart defects


This page contributors

  • yaojuan jia - institute for human genetics (Belgium) (association, study)

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