CAKUT
Gene: JAG1EnsemblGeneIds (GRCh38): ENSG00000101384
EnsemblGeneIds (GRCh37): ENSG00000101384
OMIM: 601920, Gene2Phenotype
JAG1 is in 15 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by expert reviewer (Chirag Patel (Genetic Health Queensland)). JAG1 is associated with a relevant disease in OMIM and Gene2Phenotype.
Renal structural involvement for cases of Alagille syndrome caused by variants in the JAG1 gene is well known. Based on the expert review and literature evidence there is enough evidence to support a gene-disease assocation. Therefore this gene has been given Green status.Created: 11 May 2020, 10:10 a.m. | Last Modified: 11 May 2020, 10:10 a.m.
Panel Version: 1.91
chirag patel (Genetic Health Queensland)
Renal abnormalities, both structural (small hyperechoic kidney, ureteropelvic obstruction, renal cysts) and functional (most commonly renal tubular acidosis), are found in 39% of affected individuals (73/187) [Kamath et al 2012b, Romero 2018].
Romero R. The renal sequelae of Alagille Syndrome as a Product of Altered Notch Signaling During Kidney Development. In: Kamath, BM and Loomes, KM, eds. Alagille Syndrome: Pathogenesis and Clinical Management. Cham, Switzerland: Springer Nature Switzerland AG; 2018:103-20.
Sources: LiteratureCreated: 16 Jan 2020, 4:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 1; OMIM #118450
Publications
- PMID: 22105858
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Alagille syndrome 1, OMIM:118450
- 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 1 118450 to Alagille syndrome 1, OMIM:118450
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: jag1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: jag1 has been removed from the panel.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: JAG1 were set to 22105858
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: JAG1 were changed from Alagille syndrome 1; OMIM #118450 to Alagille syndrome 1 118450
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: JAG1 were set to PMID: 22105858
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
chirag patel (Genetic Health Queensland)gene: JAG1 was added gene: JAG1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: JAG1 were set to PMID: 22105858 Phenotypes for gene: JAG1 were set to Alagille syndrome 1; OMIM #118450 Review for gene: JAG1 was set to GREEN