Renal ciliopathies

Gene: CRB2

Green List (high evidence)

CRB2 (crumbs 2, cell polarity complex component)
EnsemblGeneIds (GRCh38): ENSG00000148204
EnsemblGeneIds (GRCh37): ENSG00000148204
OMIM: 609720, Gene2Phenotype
CRB2 is in 13 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in four individuals from three families. Overlapping phenotype with ciliopathy -brain anomalies, polydactyly, cystic kidneys
Created: 25 Jan 2017, 12:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ventriculomegaly with cystic kidney disease 219730

Publications

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: CRB2 was added gene: CRB2 was added to Renal ciliopathies. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 25557780 Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease 219730