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| CAKUT v1.164 | JAG1 | Arina Puzriakova Phenotypes for gene: JAG1 were changed from Alagille syndrome 1 118450 to Alagille syndrome 1, OMIM:118450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.92 | JAG1 | Ivone Leong Classified gene: JAG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.92 | JAG1 | Ivone Leong Gene: jag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.91 | JAG1 | Ivone Leong Classified gene: JAG1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.91 | JAG1 |
Ivone Leong Added comment: 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. |
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| CAKUT v1.91 | JAG1 | Ivone Leong Gene: jag1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.90 | JAG1 | Ivone Leong Publications for gene: JAG1 were set to 22105858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.89 | JAG1 | Ivone Leong Phenotypes for gene: JAG1 were changed from Alagille syndrome 1; OMIM #118450 to Alagille syndrome 1 118450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.88 | JAG1 | Ivone Leong Publications for gene: JAG1 were set to PMID: 22105858 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | JAG1 |
chirag patel 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 Added comment: 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: Literature |
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