Ciliopathies

Gene: ZIC3

Red List (low evidence)

This gene belongs on the Heterotaxy panel.

Created: 6 May 2020, 10:42 a.m. | Last Modified: 6 May 2020, 10:42 a.m.

Panel Version: 0.123

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955); Heterotaxy, visceral, 1, X-linked (MIM#306955)

Green List (high evidence)

Many patients with congenital heart defects and heterotaxy reported, which has a few overlapping features of ciliopathies?

PMID: 27406248; Paulussen 2016: Reported 6 pathogenic variants in a cohort of patients with congenital heart disease including heterotaxy and reviewed previously published cases. Functional studies performed confirming LoF mechanism. Classified inframe dups within polyA region as VUS.

PMID: 20452998; Wessels 2010: Reported exon 1 polyA expansion in a patient with VACTERL asssociation.

Created: 6 May 2020, 3:13 a.m. | Last Modified: 6 May 2020, 3:13 a.m.

Panel Version: 0.103

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955); Heterotaxy, visceral, 1, X-linked (MIM#306955)

Publications

• 27406248
• 20452998