Kidneyome_SuperPanel_KidGen_VCGS
Gene: ZIC3EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- VACTERL association, X-linked, MIM#314390
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Rare multisystem ciliopathy disorders
- Currarino triad
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Radial dysplasia
- Fetal anomalies
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Clefting
- CAKUT
- Laterality disorders and isomerism
- Familial non syndromic congenital heart disease
- Intellectual disability
- Hydrocephalus
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes VACTERL association, X-linked, MIM#314390 for gene: ZIC3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ZIC3 was added gene: ZIC3 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,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, MIM#314390