Hydrocephalus_Ventriculomegaly
Gene: CRB2

CRB2 (crumbs 2, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable presentation ranging from isolated proteinuria or RP through to a multi-system ciliopathy disorder. Hydrocephalus a relatively common finding (9/11 in a case series, PMID 27004616).
Created: 15 Mar 2021, 2:40 a.m. | Last Modified: 15 Mar 2021, 2:40 a.m.

Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventriculomegaly with cystic kidney disease, MIM# 219730

Publications

Created: 15 Mar 2021, 2:40 a.m.
Last Modified: 15 Mar 2021, 2:40 a.m.
Panel version: 0.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ventriculomegaly with cystic kidney disease, MIM# 219730

OMIM

609720

Clinvar variants

Variants in CRB2

Penetrance

None

Publications

Panels with this gene