Genomics England
GMS Panels
Panels
Genes and Entities

JAG1

jagged 1
OMIM: 601920
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 1, OMIM:118450, Neonatal and Adult Cholestasis
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALAGILLE SYNDROME 279357
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ALAGILLE SYNDROME
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 1, OMIM:118450
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 1, OMIM:118450, exudative vitreoretinopathy, MONDO:0019516