Limb 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
2 reviews
Eleanor Williams (Genomics England Curator)
Causes heterotaxy disorders/VACTERL-like but not a ciliopathy so keep on the limb panel.Created: 3 Dec 2018, 10:13 p.m.
Helen Brittain (Genomics England Curator)
Although there are two reported cases in the literature with variants in the gene, I have had personal correspondence with a colleague who is aware of a further, unpublished caseCreated: 26 Jul 2017, 2:20 p.m.
Comment when marking as ready: Owing to the presence of two published cases with mutational information at present, considered amber and watchlist.Created: 11 May 2017, 2:21 p.m.
Although the phenotype has been reported in association with several cases that include radial defects, there are only two published cases with mutational information. See PMIDs (one 6bp insertion and one 1.3Mb deletion) for info. Seems appropriate but on current evidence, mark as watchlist.Created: 11 May 2017, 9:25 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
VACTERL association, X-linked 314390
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- VACTERL association, X-linked 314390
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- None
- Publications
- 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
11 Dec 2018, Gel status: 4
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Brittain: Although the phenotype has bee
16 Oct 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: ZIC3 was added gene: ZIC3 was added to Limb disorders. Sources: Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZIC3 were set to 21465648; 20452998 Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked 314390