Heterotaxy

Gene: ZIC3

Green List (high evidence)

ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

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 Review
Created: 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

Details

History Filter Activity

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zic3 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zic3 has been classified as Green List (High Evidence).

6 May 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

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