Radial dysplasia

Gene: ZIC3

As a result of watchlist tag audit the watchlist tag was removed from ZIC3 this is now a green gene with sufficient evidence/review

Created: 13 Jan 2020, 4:42 p.m. | Last Modified: 13 Jan 2020, 4:42 p.m.

Panel Version: 1.7

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literature with variants in the gene, I have had personal correspondence with a colleague who is aware of a further, unpublished case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

• 20452998
• 21465648