VACTERL-like phenotypes

Gene: ZIC3

Green List (high evidence)

ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 16 panels

3 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Ellen Thomas (Genomics England Curator)

Comment on list classification: ZIC3 causes laterality defects but these can overlap in phenotype with VACTERL.
Created: 27 May 2016, 10:07 a.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Some evidence from OMIM.
Created: 10 May 2016, 9:05 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL Association, X-linked
  • Heterotaxy, visceral, 1, X-linked 306955
OMIM
300265
Clinvar variants
Variants in ZIC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for ZIC3 were set to PMID: 21465648

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ZIC3 was added to VACTERL-like phenotypepanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ZIC3 was added to VACTERL-like phenotypepanel. Sources: Illumina TruGenome Clinical Sequencing Services