Comment on list classification: ZIC3 identified by expert review for the CAKUT panel. ZIC3 is associated with VATER/VACTERL. Renal malformations is a phenotype of this disorder. Phenotypic spectrum of ZIC3 mutation carriers is quite variable, with incomplete penetrance in males however sufficient number of unrelated cases with renal malformations for this to be classed as Green.
Created: 29 Apr 2020, 8:37 a.m. | Last Modified: 29 Apr 2020, 8:37 a.m.
Panel Version: 1.59
Renal malformations are a feature of VACTERL.
Sources: Expert list
Created: 16 Jan 2020, 4:56 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
VACTERL association, X-linked, MIM# 314390
Publications for gene: ZIC3 were set to
Gene: zic3 has been classified as Green List (High Evidence).
gene: ZIC3 was added gene: ZIC3 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM# 314390 Review for gene: ZIC3 was set to GREEN