Radial dysplasia

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

1 review

Helen Brittain (Genomics England Curator)

I don't know

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literature with variants in the gene, I have had personal correspondence with a colleague who is aware of a further, unpublished case
Created: 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
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL association, X-linked 314390
Tags
watchlist
OMIM
300265
Clinvar variants
Variants in ZIC3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert 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).

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

11 May 2017, Gel status: 2

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for ZIC3 were set to VACTERL association, X-linked 314390

11 May 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for ZIC3 were set to 20452998; 21465648

11 May 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Dec 2016, Gel status: 1

Upload gene information

Rebecca Foulger (Genomics England curator)

ZIC3 was added to Radial dysplasiapanel. Sources: Expert list

13 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ZIC3 was created by rfoulger

13 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

ZIC3 was added to Radial dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services