Heterotaxy
Gene: ZIC3
Pathogenic loss of function variants reported in >5 patients with heterotaxy
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: 30120289; Li 2018: 1 additional hemi missense reported in a male patients inherited from carrier mother.
Sources: Expert ReviewCreated: 6 May 2020, 3:23 a.m.
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
Heterotaxy, visceral, 1, X-linked (MIM#306955)
Publications
Gene: zic3 has been classified as Green List (High Evidence).
Gene: zic3 has been classified as Green List (High Evidence).
gene: ZIC3 was added gene: ZIC3 was added to Heterotaxy. Sources: Expert Review Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZIC3 were set to 27406248; 30120289 Phenotypes for gene: ZIC3 were set to Heterotaxy, visceral, 1, X-linked (MIM#306955) Review for gene: ZIC3 was set to GREEN