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 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease, OMIM:219730
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	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 3.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease 219730
Green in Proteinuric renal disease R-numbers: R195 Signed-off version 4.0	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 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease 219730
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ventriculomegaly with cystic kidney disease 219730