Hydrocephalus

Gene: ZIC3

Green List (high evidence)

ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

I don't know

Although there are two reported cases in the literature, I have had personal correspondence with a colleague who is aware of a further, unpublished case
Created: 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 needed
Created: 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

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ZIC3.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ZIC3 was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

ZIC3 was added to Hydrocephaluspanel. Sources: Literature

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

ZIC3 was created by helen.brittain