Hydrocephalus
Gene: ZIC3EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Although there are two reported cases in the literature, I have had personal correspondence with a colleague who is aware of a further, unpublished caseCreated: 26 Jul 2017, 2:18 p.m.
Two cases with VACTERL phenotype with hydrocephalus as a feature reported in literature (one with large deletion), however several others with heterotaxy reported. Inclined to include but wider discussion neededCreated: 9 May 2017, 1:23 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
VACTERL association, X-linked
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- VACTERL association, X-linked, OMIM:314390
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- Complete
- Publications
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ZIC3 were changed from VACTERL association, X-linked to VACTERL association, X-linked, OMIM:314390
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ZIC3.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Hydrocephaluspanel. Source: Expert Review Amber
Added New Source
Helen Brittain (Genomics England Curator)ZIC3 was added to Hydrocephaluspanel. Sources: Literature
Created
Helen Brittain (Genomics England Curator)ZIC3 was created by helen.brittain