Genomics England
GMS Panels
Panels
Genes and Entities

NOTCH2

notch 2
OMIM: 600275
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 2, Neonatal and Adult Cholestasis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HAJDU-CHENEY SYNDROME 102500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HAJDU-CHENEY SYNDROME
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500, Alagille syndrome 2 610205