Kidneyome_SuperPanel_VCGS
Gene: ZIC3EnsemblGeneIds (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 list
- Expert Review Green
- Phenotypes
-
- VACTERL association, X-linked, MIM#314390
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- DDG2P
- Currarino triad
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- CAKUT
- Familial non syndromic congenital heart disease
- Clefting
- Limb disorders
- Skeletal dysplasia
- Hydrocephalus
- Intellectual disability
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ZIC3 was added gene: ZIC3 was added to Kidneyome_SuperPanel_VCGS. Sources: Expert Review Green,Expert list 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, MIM#314390