This Panel is marked as Internal
Isomerism and laterality 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
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- x-linked Heterotaxy syndrome, Visceral, 1
- Heterotaxy, visceral, 1, X-linked 306955
- Visceral Heterotaxy, Heterotaxy, Visceral, 1, X-Linked
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- Complete
- Publications
-
- doi:10.1016/j.ejmg.2005.12.003
- 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
16 May 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Isomerism and laterality disorderspanel. Source: UKGTN
16 May 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Isomerism and laterality disorderspanel. Source: Radboud University Medical Center, Nijmegen
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ZIC3 was created by ellenmcdonagh
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ZIC3 was added to Isomerism and laterality disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature