Radial dysplasia
Gene: ZIC3As a result of watchlist tag audit the watchlist tag was removed from ZIC3 this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 4:42 p.m. | Last Modified: 13 Jan 2020, 4:42 p.m.
Panel Version: 1.7
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literature with variants in the gene, I have had personal correspondence with a colleague who is aware of a further, unpublished caseCreated: 26 Jul 2017, 2:20 p.m.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
Tag watchlist was removed from gene: ZIC3.
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for ZIC3 were set to VACTERL association, X-linked 314390
Publications for ZIC3 were set to 20452998; 21465648
This gene has been classified as Amber List (Moderate Evidence).
ZIC3 was added to Radial dysplasiapanel. Sources: Expert list
ZIC3 was created by rfoulger
ZIC3 was added to Radial dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services