CRB2

crumbs 2, cell polarity complex component
OMIM: 609720
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly with cystic kidney disease, OMIM:219730
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly with cystic kidney disease 219730
R-numbers: R195
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
steroid resistant nephrotic syndrome, Focal segmental glomerulosclerosis 9 #616220, Ventriculomegaly with cystic kidney disease #219730
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly with cystic kidney disease 219730
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly with cystic kidney disease 219730