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  2. Syndromic Retinopathy
  3. VCAN
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Syndromic Retinopathy

Gene: VCAN

Green List (high evidence)
VCAN (versican)
EnsemblGeneIds (GRCh38): ENSG00000038427
EnsemblGeneIds (GRCh37): ENSG00000038427
OMIM: 118661, Gene2Phenotype
VCAN is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported. Note reports of CNVs.
Created: 6 Jan 2021, 10:45 a.m. | Last Modified: 6 Jan 2021, 10:45 a.m.
Panel Version: 0.5999

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Wagner syndrome 1, MIM# 143200

Publications

Created: 6 Jan 2021, 10:45 a.m.
Last Modified: 6 Jan 2021, 10:45 a.m.
Panel version: Imported from Mendeliome panel version 0.5999

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Wagner Syndrome
OMIM
118661
Clinvar variants
Variants in VCAN
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: VCAN was added gene: VCAN was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VCAN were set to Wagner Syndrome