ZIC3 Zic family member 3

Gene info

Synonyms

HTX, ZNF203

Previous symbol

HTX1

External ID

HGNC: 12874
Entrez Gene: 7547
Ensembl: ENSG00000156925
UCSC: uc004fak.4
OMIM: 300265
UniProtKB: O60481

Disease info

CHD Phenotype

  • Atrial septal defect
  • Transposition of the great arteries
  • Pulmonary stenosis
  • Dextrocardia
  • Ventricular septal defect
  • Single atrium
  • Single ventricle
  • Mitral valve atresia
  • Persistent ductus arteriosus

Extra Cardiac Phenotype

Failure to thrive, Hypertelorism, situs inversus, renal agenesis, Vertebral anomalies , lung lobation defects, Tracheoesophageal fistula , Imperforate anus, Anal atresia , Hydronephrosis , Enlarged kidneys, Urethral atresia, Humeral hypoplasia, Radial aplasia , Hexadactyly , Proximally placed thumb , Hydrocephalus

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

Mice homozygous for a single base mutation, or heterozygous or homozygous for a null allele have CHD

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for ZIC3: BED file

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Selected References

  1. Wessels, M., & Willems, P. (2010). Genetic factors in non-syndromic congenital heart malformations. Clinical Genetics, 78(2), 103–123. DOI:10.1111/j.1399-0004.2010.01435.x PMID:20497191
  2. Li, Y.-J., & Yang, Y.-Q. (2017). An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations. Expert Review of Molecular Diagnostics, 17(4), 393–401. DOI:10.1080/14737159.2017.1300062 PMID:28274167
  3. Chhin, B., Hatayama, M., Bozon, D., Ogawa, M., Schön, P., Tohmonda, T., … Bouvagnet, P. (2007). Elucidation of penetrance variability of aZIC3mutation in a family with complex heart defects and functional analysis ofZIC3mutations in the first zinc finger domain. Human Mutation, 28(6), 563–570. DOI:10.1002/humu.20480 PMID:17295247
  4. Mégarbané, A., Salem, N., Stephan, E., Ashoush, R., Lenoir, D., Delague, V., … Bouvagnet, P. (2000). X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. European Journal of Human Genetics, 8(9), 704–708. DOI:10.1038/sj.ejhg.5200526 PMID:10980576
  5. Ware, S. M., Peng, J., Zhu, L., Fernbach, S., Colicos, S., Casey, B., … Belmont, J. W. (2004). Identification and Functional Analysis of ZIC3 Mutations in Heterotaxy and Related Congenital Heart Defects. The American Journal of Human Genetics, 74(1), 93–105. DOI:10.1086/380998 PMID:14681828