Hydrocephalus
Gene: ZIC3
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
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two reported cases in the literature, I have had personal correspondence with a colleague who is aware of a further, unpublished caseCreated: 26 Jul 2017, 2:18 p.m.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
Phenotypes for gene: ZIC3 were changed from VACTERL association, X-linked to VACTERL association, X-linked, OMIM:314390
Source NHS GMS was added to ZIC3.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
ZIC3 was added to Hydrocephaluspanel. Source: Expert Review Amber
ZIC3 was added to Hydrocephaluspanel. Sources: Literature
ZIC3 was created by helen.brittain