Laterality disorders and isomerism

Gene: ZIC3

Green List (high evidence)

On CGGL Royal Brompton panel. Good literature evidence

Created: 25 Nov 2019, 11:28 p.m. | Last Modified: 25 Nov 2019, 11:28 p.m.

Panel Version: 0.51

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
OMIM 306955 Heterotaxy, visceral, 1, X-linked; Congenital heart defects, nonsyndromic, 1, X-linked

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Review on panel: Familial non syndromic congenital heart disease. 4 Jul 2017, 7:24 a.m. Panel version: 1.8. Helen Brittain (Genomics England Curator). Green List (high evidence). Review: >5 families with situs abnormalities in listed PMID. Evidence for causation of heterotaxy. Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females. Phenotypes: x-linked Heterotaxy syndrome, Visceral, 1; Heterotaxy, visceral, 1, X-linked 306955; Visceral Heterotaxy; Heterotaxy, Visceral, 1, X-Linked. Publications: 9354794

Created: 16 Jan 2019, 1:37 p.m.

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ZIC3; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

Created: 5 Dec 2018, 12:52 p.m.