Joubert syndrome and other neurological ciliopathies
Gene: ZIC4
ZIC4 (Zic family member 4)
EnsemblGeneIds (GRCh38): ENSG00000174963
EnsemblGeneIds (GRCh37): ENSG00000174963
OMIM: 608948, Gene2Phenotype
ZIC4 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000174963
EnsemblGeneIds (GRCh37): ENSG00000174963
OMIM: 608948, Gene2Phenotype
ZIC4 is in 3 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
No evidence supporting gene/disease association.
No OMIM phenotype. Gene is not in PanelApp UK. No P/LP SNV reported in ClinVar
PMID: 21204220 & 15338008; Deletion of linked genes ZIC1 and ZIC4 reported in patients with Dandy-walker malformationCreated: 3 May 2020, 11:29 p.m. | Last Modified: 3 May 2020, 11:29 p.m.
Panel Version: 0.20
Mode of inheritance
Unknown
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 608948
- Clinvar variants
- Variants in ZIC4
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
4 May 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic4 has been classified as Red List (Low Evidence).
4 May 2020, Gel status: 1
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ZIC4 were set to
4 May 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zic4 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ZIC4 was added gene: ZIC4 was added to Joubert syndrome and other cerebellar malformations_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZIC4 was set to Unknown