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CHDGene:ENSG00000113430

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IRX4

Non syndromic associated CHDs overview

VSD (2, 100%)

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External references for IRX4

Known phenotypes for IRX4

Non-syndromic

  
 VSD edit association
  • Support: unconfirmed: a single case report
  • References: PMID:21544582 (population study with screening of similar CHD patients and normal controls modify)
  • Inheritence:
  • Incidence: 2 mutations in 698 non-syndromic CHD patients. Both mutations were absent from 250 controls.
  • Comments:
  • Studies: (1)
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Syndromic

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Protein interaction partners


Patients reports for IRX4

Translocations

Region References OMIM Comments

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Mutations in IRX4

Mutation (DNA) Mutation (peptide) CHD Reference Other features Inheritence Additional info.
edit NM_016358.2:c.253A>T NP_057442.1:p.Asn85Tyr VSD PMID:21544582 Dominant Sporadic
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edit NM_016358.2:c.275A>G NP_057442.1:p.Glu92Gly VSD PMID:21544582 Dominant Sporadic
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Representation of protein IRX4

Heart expression domain of IRX4

No specified expression domain for IRX4

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Associated CHDs found by automated text mining

AGeneApart Method

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Heart defects
This page contributors

  • Bernard Thienpont - Babraham Institute (United Kingdom) (association, mutation, study)

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

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