Neonatal cholestasis
Gene: JAG1EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: added OMIM MIMidCreated: 25 Jul 2018, 2:33 p.m.
Comment on mode of inheritance: updated MOI from external clinical review to not imprintedCreated: 25 Jul 2018, 2:32 p.m.
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Major cause of Alagille syndrome; the phenotype includes cholestatic liver disease (characterized by bile duct paucity).Created: 25 Jul 2018, 12:04 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
All sorts of variants reported.
Good diagnostic rate in our cohort; 7/160 patientsCreated: 4 Jun 2018, 12:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome; cholestasis
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Alagille syndrome 1, OMIM:118450
- Neonatal and Adult Cholestasis
- OMIM
- 601920
- Clinvar variants
- Variants in JAG1
- Penetrance
- None
- Publications
- 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; Neonatal and Adult Cholestasis; Alagille syndrome 1, 118450 to Alagille syndrome 1, OMIM:118450; Neonatal and Adult Cholestasis
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: JAG1 were set to Alagille syndrome; Neonatal and Adult Cholestasis; Alagille syndrome 1, 118450
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: JAG1 were set to Alagille syndrome, 118450; Neonatal and Adult Cholestasis; Alagille syndrome 1
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: JAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: jag1 has been classified as Green List (High Evidence).
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: JAG1 were set to 23881058
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: jag1 has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to JAG1. Panel: Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)UKGTN was added to JAG1. Panel: Cholestasis Model of inheritance for gene JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene JAG1 were set to Alagille syndrome, Neonatal and Adult Cholestasis, Alagille syndrome 1
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Emory Genetics Laboratory was added to JAG1. Panel: Cholestasis Phenotypes for gene JAG1 were set to Alagille syndrome, Neonatal and Adult Cholestasis
Added New Source
Ellen Thomas (Genomics England Curator)JAG1 was added to Cholestasis panel. Sources: Other
Created
Ellen Thomas (Genomics England Curator)JAG1 was created by Ellen Thomas