G6PC3

Syndromic associated CHDs overview

Patent arterial duct (PDA) (2, 33.3%)

ASD (4, 66.7%)

[edit] Synopsis

Homozygous mutations in the G6PC3 gene were described in a large consanguineous Turkish family and an unrelated Turkish child with autosomal recessive severe congenital neutropenia (SCN4) (OMIM:612541) (Botzug K et al., 2009). Banka S et al., 2010 report on a homozygous mutation in the G6PC3 gene in a family with 2 affected sibs, presenting with Dursun syndrome (OMIM:612541): a triad of pulmonary arterial hypertension, atrial septal defect and congenital leukopenia.

[edit] Animal model

G6pc3 null mice are neutropenic and have defective neutrophil respiratory burst, chemotaxis, and calcium flux, as well as increased susceptibility to bacterial infection. No congenital heart defects were described in these mice.

External references for G6PC3

• ensembl: ENSG00000141349
• OMIM: not found
• Search miRBase for G6PC3
• Expression patterns from 4DXPress: G6PC3
• MGI: MGI:1915651
• ZFIN:
• Wikipedia: G6PC3
• Search Wikiproteins: G6PC3
• Search Genetic Association Database: G6PC3
• Search GeneTests: G6PC3
• CHeartED:

Known phenotypes for G6PC3

Non-syndromic

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Syndromic

ASD

Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene) References: PMID:20799326 (single case report ) PMID:20717171 (single case report ) Syndromes: Autosomal recessive severe congenital neutropenia (SCN4) or Dursun syndrome (OMIM:613034): triad of familial PPH, leucopenia, and atrial septal defect (ASD) Incidence: rare autosomal recessive disorder Comments: Studies: (2) [ show ] [ hide ] Reference: PMID:20799326 Incidence: 2/2 patients Comments: Banka S et al., 2010 report on a homozygous mutation in the G6PC3 gene in a family with 2 affected sibs, presenting pulmonary hypertension, atrial septal defect, neutropenia, lymphopenia, monocytosis, anemia, dysplastic bone marrow, thymus hypoplasia, proximally placed thumbs, broad nasal bridge, pectus carinatum, and high arched palate. Reference: PMID:20717171 Incidence: 2/2 patients Comments: Banka S et al., 2011 report on a homozygous G6PC3 mutation (p.253R>H) in four individuals with severe congenital neutropenia type 4 who belong to a single large consanguineous kindred. Atrial septal defects and patent ductus arteriosus were present in two of these patients. Add another study.

Patent arterial duct (PDA)

Support: unconfirmed: a single case report References: PMID:20717171 (single case report ) Syndromes: Autosomal recessive severe congenital neutropenia (SCN4) or Dursun syndrome (OMIM:613034): triad of familial PPH, leucopenia, and atrial septal defect (ASD) Incidence: rare autosomal recessive disorder Comments: Studies: (1) [ show ] [ hide ] Reference: PMID:20717171 Incidence: 2/2 patients Comments: Banka S et al., 2011 report on a homozygous G6PC3 mutation (p.253R>H) in four individuals with severe congenital neutropenia type 4 who belong to a single large consanguineous kindred. Atrial septal defects and patent ductus arteriosus were present in two of these patients. Add another study.

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Protein interaction partners

Patients reports for G6PC3

Translocations

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Mutations in G6PC3

Representation of protein G6PC3

Heart expression domain of G6PC3

No specified expression domain for G6PC3

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Associated CHDs found by automated text mining

AGeneApart Method

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Heart defects

This page contributors

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