Vitreoretinopathy
Gene: VCANEnsemblGeneIds (GRCh38): ENSG00000038427
EnsemblGeneIds (GRCh37): ENSG00000038427
OMIM: 118661, Gene2Phenotype
VCAN is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 10 unrelated families reported. Note reports of CNVs.Created: 6 Jan 2021, 10:43 a.m. | Last Modified: 6 Jan 2021, 10:43 a.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Wagner syndrome 1, MIM# 143200
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Wagner syndrome 1, MIM# 143200
- Tags
- OMIM
- 118661
- Clinvar variants
- Variants in VCAN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vcan has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: VCAN were changed from to Wagner syndrome 1, MIM# 143200
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: VCAN were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: VCAN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to gene: VCAN.
Created, Added New Source, Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)gene: VCAN was added gene: VCAN was added to Vitreoretinopathy. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VCAN was set to Unknown