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| Renal Tubulointerstitial Disease v1.0 | FAN1 |
Zornitza Stark changed review comment from: Phenotypic overlap. Sources: Expert Review; to: Phenotypic overlap. Well established gene-disease association. Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei. Sources: Expert Review |
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| Renal Tubulointerstitial Disease v0.19 | REN | Zornitza Stark Marked gene: REN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.19 | REN | Zornitza Stark Gene: ren has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.19 | REN | Zornitza Stark Phenotypes for gene: REN were changed from to Autosomal dominant tubulointerstitial disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.18 | REN | Zornitza Stark Publications for gene: REN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.17 | REN | Zornitza Stark Mode of inheritance for gene: REN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.16 | REN | Zornitza Stark reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586593, 31406136, 28701203, 21473025; Phenotypes: Autosomal dominant tubulointerstitial disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.16 | HNF1B | Zornitza Stark Phenotypes for gene: HNF1B were changed from to Diabetes mellitus, noninsulin-dependent 125853 AD; Renal cysts and diabetes syndrome 137920 AD; {Renal cell carcinoma} 144700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.12 | HNF1B | Michelle Torres reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25536396, 11845238, 15509593; Phenotypes: Diabetes mellitus, noninsulin-dependent 125853 AD, Renal cysts and diabetes syndrome 137920 AD, {Renal cell carcinoma} 144700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.10 | FAN1 |
Zornitza Stark gene: FAN1 was added gene: FAN1 was added to Renal Tubulointerstitial Disease. Sources: Expert Review Mode of inheritance for gene: FAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic, MIM# 614817 Review for gene: FAN1 was set to GREEN Added comment: Phenotypic overlap. Sources: Expert Review |
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| Renal Tubulointerstitial Disease v0.8 |
Zornitza Stark Panel name changed from Renal tubulointerstitial disease_KidGen_VCGS to Renal Tubulointerstitial Disease Panel types changed to Victorian Clinical Genetics Services; KidGen |
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| Renal Tubulointerstitial Disease v0.5 | Zornitza Stark Panel name changed from Renal tubulointerstitial disease_KidGen to Renal tubulointerstitial disease_KidGen_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.3 | DNAJB11 |
Zornitza Stark gene: DNAJB11 was added gene: DNAJB11 was added to Renal tubulointerstitial disease_KidGen. Sources: Expert list Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJB11 were set to 29706351; 29777155 Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 Review for gene: DNAJB11 was set to GREEN gene: DNAJB11 was marked as current diagnostic Added comment: At least 7 unrelated families with variants reported in this gene; variable presentation including tubulointerstitial disease (histologically) in addition to polycystic disease (hybrid between PKD and ADTKD). Sources: Expert list |
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| Renal Tubulointerstitial Disease v0.1 | ATP6V0A4 | Zornitza Stark reviewed gene: ATP6V0A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.0 | ATP6V0A4 |
Zornitza Stark gene: ATP6V0A4 was added gene: ATP6V0A4 was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: ATP6V0A4 was set to Unknown |
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| Renal Tubulointerstitial Disease v0.0 | AQP2 |
Zornitza Stark gene: AQP2 was added gene: AQP2 was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: AQP2 was set to Unknown |
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| Renal Tubulointerstitial Disease v0.0 | UMOD |
Zornitza Stark gene: UMOD was added gene: UMOD was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: UMOD was set to Unknown |
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| Renal Tubulointerstitial Disease v0.0 | SEC61A1 |
Zornitza Stark gene: SEC61A1 was added gene: SEC61A1 was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: SEC61A1 was set to Unknown |
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| Renal Tubulointerstitial Disease v0.0 | REN |
Zornitza Stark gene: REN was added gene: REN was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: REN was set to Unknown |
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| Renal Tubulointerstitial Disease v0.0 | MUC1 |
Zornitza Stark gene: MUC1 was added gene: MUC1 was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: MUC1 was set to Unknown |
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| Renal Tubulointerstitial Disease v0.0 | HNF1B |
Zornitza Stark gene: HNF1B was added gene: HNF1B was added to Renal tubulointerstitial disease_KidGen. Sources: KidGen_Tubulointerstitial v38.1.0,Expert Review Green Mode of inheritance for gene: HNF1B was set to Unknown |
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| Renal Tubulointerstitial Disease v0.0 | Zornitza Stark Added panel Renal tubulointerstitial disease_KidGen | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||