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CHDGene:ENSG00000143815

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LBR

Syndromic associated CHDs overview

VSD (1, 100%)

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External references for LBR

Known phenotypes for LBR

Non-syndromic

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Syndromic

  
 VSD edit association
  • Support: unconfirmed: a single case report
  • References: PMID:12118250 (population study with screening of similar CHD patients and normal controls modify)
  • Syndromes: Pelger-Huet anomaly (OMIM:169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Heterozygotes show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as varying degrees of developmental delay, epilepsy, and skeletal abnormalities.
  • Incidence: 11 families from Gelenau (high incidence of Pelger-Huet anomaly) with 18 unaffected and 29 affected members: 1 patient with mental retardation, disproportionate body stature, macrocephalus with prominent forehead, ventricular septal defect and short metacarpals (PMID:12118250)
  • Comments:
  • Studies: (1)
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Protein interaction partners


Patients reports for LBR


Translocations

Region References OMIM Comments

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Mutations in LBR

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

Representation of protein LBR

Heart expression domain of LBR

No specified expression domain for LBR

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Associated CHDs found by automated text mining

AGeneApart Method

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Heart defects
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