Genomics England
GMS Panels
Panels
Genes and Entities

NOTCH3

notch 3
OMIM: 600276
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310
Green
in CADASIL
R-numbers: R337
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lateral meningocele syndrome, OMIM:130720