Thoracic dystrophies
Gene: ZIC3EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
3 reviews
Melita Irving (Guy's and St Thomas' NHS Trust)
Helen Brittain (Genomics England Curator)
Comment on list classification: Although the number of cases (two published and one unpublished) meets causation criteria for VACTERL-H, this is not a phenotype that is considered relevant to the thoracic dysplasia panel. Therefore red.Created: 30 May 2017, 12:15 p.m.
Although there are two reported cases in the literature, discussed with Richard Scott who is aware of a further, unpublished caseCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
Hannah Mitchison (UCL and GOSH)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
- VACTERLX
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Currarino triad
- Limb disorders
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- CAKUT
- Familial non syndromic congenital heart disease
- Skeletal dysplasia
- Clefting
- Hydrocephalus
- Intellectual disability
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ZIC3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)ZIC3 was added to Thoracic dystrophiespanel. Sources: Emory Genetics Laboratory