Personal tools
Views

CHDGene:ENSG00000160973

From CHDWiki

Jump to: navigation, search

FOXH1

Non syndromic associated CHDs overview

Complete transposition of great arteries (IVS) (4, 44.4%)
Tetralogy of Fallot (5, 55.6%)

There is currently no text in this page. You can search for this page title in other pages, search the related logs, or edit this page.

External references for FOXH1

Known phenotypes for FOXH1

Non-syndromic

  
 Complete transposition of great arteries (IVS) edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:18538293 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritence: sporadic dominant
  • Incidence:
  • Comments:
  • Studies: (2)
[ show ]
Add another study.


  
 Tetralogy of Fallot edit association
  • Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
  • References: PMID:18538293 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritence: sporadic
  • Incidence:
  • Comments:
  • Studies: (1)
[ show ]
Add another study.


Add another phenotype.


Syndromic

Add another phenotype.

Protein interaction partners


Patients reports for FOXH1


Translocations

Region References OMIM Comments

Add another translocation.

Mutations in FOXH1

Mutation (DNA) Mutation (peptide) CHD Reference Other features Inheritence Additional info.
edit NM_003923.2:c.1055C>A NP_003914.1:p.Ala352Glu Complete transposition of great arteries (IVS) PMID:18538293 Dominant Sporadic
show
edit NM_003923.2:c.1049A>G NP_003914.1:p.Asp350Gly Tetralogy of Fallot PMID:18538293 Dominant Sporadic
show
edit NP_003914.1:p.Pro21Ser Complete transposition of great arteries (IVS) PMID:19933292 TGA Dominant Familial
show
edit NM_003923.2:c.910C>A NP_003914.1:p.Pro304Thr Complete transposition of great arteries (IVS) PMID:18538293 Dominant Sporadic
show
edit NM_003923.2:c.1004C>T NP_003914.1:p.Pro335Leu Tetralogy of Fallot PMID:18538293 Dominant Sporadic
show
edit NM_003923.2:c.1015A>G NP_003914.1:p.Ser339Gly Tetralogy of Fallot PMID:18538293 Dominant Sporadic
show
edit NM_003923.2:c.1036A>G NP_003914.1:p.Ser346Gly Tetralogy of Fallot PMID:18538293 Dominant Sporadic
show
edit NM_003923.2:c.1091G>T NP_003914.1:p.Ser364Ile Complete transposition of great arteries (IVS) PMID:18538293 Dominant Sporadic
show
edit NM_003923.2:c.334G>A NP_003914.1:p.Val112Met Tetralogy of Fallot PMID:18538293 Dominant Sporadic
show

Representation of protein FOXH1

Heart expression domain of FOXH1

No specified expression domain for FOXH1

Add a new domain where gene FOXH1 is expressed

Associated CHDs found by automated text mining

AGeneApart Method

Huge Navigator (Genopedia)

See complete results on Genopedia (including non CHD)

Heart defects
This page contributors

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

Retrieved from "http://homes.esat.kuleuven.be/~bioiuser/chdwiki/index.php/CHDGene:ENSG00000160973"