Genomics England

CRB2

crumbs 2, cell polarity complex component

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Green in Hydrocephalus R-numbers: R86 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease 219730
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 1.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease 219730
Green in Proteinuric renal disease R-numbers: R195 Signed-off version 2.32	BIALLELIC, autosomal or pseudoautosomal	Phenotypes steroid resistant nephrotic syndrome, Focal segmental glomerulosclerosis 9 #616220, Ventriculomegaly with cystic kidney disease #219730
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease 219730
Green in Unexplained paediatric onset end-stage renal disease R-numbers: R257 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease 219730