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  2. Familial non syndromic congenital heart disease
  3. ZIC3
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Familial non syndromic congenital heart disease

Gene: ZIC3

Green List (high evidence)
ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

>5 families with situs abnormalities in listed PMID. Evidence for causation of heterotaxy.
Created: 4 Jul 2017, 7:24 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
x-linked Heterotaxy syndrome, Visceral, 1; Heterotaxy, visceral, 1, X-linked 306955; Visceral Heterotaxy; Heterotaxy, Visceral, 1, X-Linked

Publications

Created: 4 Jul 2017, 7:24 a.m.

Panel version: 1.8

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • x-linked Heterotaxy syndrome, Visceral, 1
  • Heterotaxy, visceral, 1, X-linked 306955
  • Visceral Heterotaxy
  • Heterotaxy, Visceral, 1, X-Linked
OMIM
300265
Clinvar variants
Variants in ZIC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jul 2017, Gel status: 3

Added New Source

Helen Brittain (Genomics England Curator)

ZIC3 was added to Familial non syndromic congenital heart diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN

4 Jul 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

ZIC3 was created by helen.brittain