| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Renal Tubulointerstitial Disease v1.7 | JAG1 | Zornitza Stark Classified gene: JAG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v1.7 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v1.6 | JAG1 | Zornitza Stark Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v1.6 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v1.6 | JAG1 | Zornitza Stark Classified gene: JAG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v1.6 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v1.4 | JAG1 |
Chirag Patel gene: JAG1 was added gene: JAG1 was added to Renal Tubulointerstitial Disease. 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: 41061854 Phenotypes for gene: JAG1 were set to JAG1-related autosomal dominant tubulointerstitial kidney disease; Alagille syndrome, MONDO:0007318 Review for gene: JAG1 was set to GREEN Added comment: Kidney malformations and chronic kidney disease are well established in Alagille syndrome. 3 large families (out of 203) with ADTKD and a (likely) pathogenic variant in JAG1 gene segregating with disease. JAG1 expression studies as well ER stress analysis suggested that the tubulointerstitial kidney disease was not due to cell toxicity of an abnormal protein, but rather to haploinsufficiency and loss of function. None of the 23 adult patients with isolated kidney failure (and tubulointerstitial nephritis in individuals with available kidney biopsy) had syndromic manifestations of Alagille syndrome (i.e. liver, bile duct, heart, eye, or skeletal). Therefore, JAG1 variants should be considered in isolated tubulointerstitial kidney disease. Sources: Literature |
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| Renal Tubulointerstitial Disease v1.4 | JAG1 |
Chirag Patel gene: JAG1 was added gene: JAG1 was added to Renal Tubulointerstitial Disease. 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: 41061854 Phenotypes for gene: JAG1 were set to JAG1-related autosomal dominant tubulointerstitial kidney disease; Alagille syndrome, MONDO:0007318 Review for gene: JAG1 was set to GREEN Added comment: Kidney malformations and chronic kidney disease are well established in Alagille syndrome. 3 large families (out of 203) with ADTKD and a (likely) pathogenic variant in JAG1 gene segregating with disease. JAG1 expression studies as well ER stress analysis suggested that the tubulointerstitial kidney disease was not due to cell toxicity of an abnormal protein, but rather to haploinsufficiency and loss of function. None of the 23 adult patients with isolated kidney failure (and tubulointerstitial nephritis in individuals with available kidney biopsy) had syndromic manifestations of Alagille syndrome (i.e. liver, bile duct, heart, eye, or skeletal). Therefore, JAG1 variants should be considered in isolated tubulointerstitial kidney disease. Sources: Literature |
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