Genomics England
GMS Panels
Panels
Genes and Entities

CRB2

crumbs 2, cell polarity complex component
OMIM: 609720
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
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
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly with cystic kidney disease 219730
Green
in Proteinuric renal disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R195
Signed-off version 5.0
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
  • - Unexplained young onset end-stage renal disease
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ventriculomegaly with cystic kidney disease 219730