Ductal plate malformation
Gene: JAG1EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels
2 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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.
Ivone Leong (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Alagille syndrome 1, OMIM:118450
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- None
- Panels with this gene
-
- CAKUT
- Cholestasis
- Hereditary neuropathy
- Tubulointerstitial kidney disease
- Familial non syndromic congenital heart disease
- DDG2P
- Intellectual disability
- Cerebral vascular malformations
- Retinal disorders
- Ductal plate malformation
- Monogenic hearing loss
- Neonatal cholestasis
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 (118450) to Alagille syndrome 1, OMIM:118450
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Confirmed to be a causative ge
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: jag1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: jag1 has been classified as Red List (Low Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to JAG1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)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)