Non-Fanconi anaemia
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- VACTERL Association, X-linked
- Heterotaxy, visceral, 1, X-linked 306955
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Currarino triad
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Radial dysplasia
- CAKUT
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Familial non syndromic congenital heart disease
- Limb disorders
- DDG2P
- Intellectual disability
- Clefting
- Hydrocephalus
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model 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)
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model 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)
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ZIC3 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen