Heterotaxy
Gene: ZIC3EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Heterotaxy, visceral, 1, X-linked (MIM#306955)
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
- Repeat Disorders
- Hydrocephalus_Ventriculomegaly
- Radial Ray Abnormalities
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Heterotaxy
- Congenital Heart Defect
- Arthrogryposis
- Mendeliome
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic3 has been classified as Green List (High Evidence).
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