Clefting disorders
Gene: ZIC3
ZIC3 (Zic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
- VACTERLX
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- None
- 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
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ZIC3 was added gene: ZIC3 was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX