Ductal plate malformation
Gene: JAG1
Discussed with Dr Bill Griffiths who confirmed that the bile duct paucity associated with Alagille syndrome is distinct from the ductal plate malformation phenotypes covered by this panel.Created: 26 Nov 2018, 10:08 p.m.
Comment on list classification: Demoted from amber to red. Based on the comment by Anna de Burca (Genomics England Curator).Created: 27 Nov 2018, 9:33 a.m.
Confirmed to be a causative gene for Alagille syndrome on Gene2Phenotype.Created: 12 Nov 2018, 1:55 p.m.
Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 (118450) to Alagille syndrome 1, OMIM:118450
Ivone Leong: Confirmed to be a causative ge
Gene: jag1 has been classified as Red List (Low Evidence).
Gene: jag1 has been classified as Red List (Low Evidence).
Source Expert Review Amber was added to JAG1.
gene: JAG1 was added gene: JAG1 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAG1 were set to Alagille syndrome 1 (118450)