Currarino triad
Gene: ZIC3
ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
1 review
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Heterotaxy, visceral, 1, X-linked; Sacral agenesis; Rectal stenosis
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Other
- Phenotypes
-
- Heterotaxy, visceral, 1, X-linked
- Sacral agenesis
- Rectal stenosis
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Currarino triad
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Radial dysplasia
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Intellectual disability
- Clefting
- Hydrocephalus
History Filter Activity
3 Nov 2016, Gel status: 0
panel promoted to version 1
Rebecca Foulger (Genomics England curator)3 November 2016: Panel review was assessed and panel was revised according to expert review and additional curation.
24 Oct 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)ZIC3 was created by rfoulger
24 Oct 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)ZIC3 was added to Currarino triadpanel. Sources: Other