Rare multisystem ciliopathy disorders
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
Alice Gardham (Genomics England)
Comment when marking as ready: Heterotaxy genes not included on this panelCreated: 25 Jan 2017, 9:53 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 Red
- Emory Genetics Laboratory
- Expert list
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Currarino triad
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Radial dysplasia
- Intellectual disability
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Limb disorders
- Familial non syndromic congenital heart disease
- DDG2P
- Clefting
- Hydrocephalus
History Filter Activity
26 Jan 2017, Gel status: 1
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
25 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
25 Nov 2016, Gel status: 1
Upload gene information
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
5 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ZIC3 was created by ellenmcdonagh