JAG1

PanelMode of inheritanceDetails
4 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 1, OMIM:118450, Neonatal and Adult Cholestasis
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 1, OMIM:118450
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALAGILLE SYNDROME 279357
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALAGILLE SYNDROME