GMS Respiratory specialist test group Laterality disorders and isomerism
Gene: ZIC3EnsemblGeneIds (GRCh38): ENSG00000156925
EnsemblGeneIds (GRCh37): ENSG00000156925
OMIM: 300265, Gene2Phenotype
ZIC3 is in 17 panels
1 review
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ZIC3; Suggested intial gene rating: Green; Evidence for inclusion: OMIM PCD or Visceral heterotaxy gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 26 Nov 2018, 2:25 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 300265
- Clinvar variants
- Variants in ZIC3
- Penetrance
- None
- Panels with this gene
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- 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
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to ZIC3. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ZIC3 was added gene: ZIC3 was added to GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ZIC3 was set to