| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Renal Macrocystic Disease v0.94 | UMOD | Zornitza Stark Marked gene: UMOD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.94 | UMOD | Zornitza Stark Gene: umod has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.94 | UMOD | Zornitza Stark Phenotypes for gene: UMOD were changed from to Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.93 | UMOD | Zornitza Stark Publications for gene: UMOD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.92 | UMOD | Zornitza Stark Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.91 | UMOD | Zornitza Stark reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 40533238; Phenotypes: Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.91 | UMOD | Noor Al-Ali reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID: 23988501, 12471200, 32954071, 33397327, 23396133, 32450155); Phenotypes: Onset at adolescent or adult age, arterial hypertension (in some patients), renal insufficiency, nephropathy, renal failure, polydipsia, polyuria, impaired urinary concentration, chronic interstitial nephritis, tubulointerstitial abnormalities, tubular atrophy, interstitial fibrosis, hyaline material deposited around tubules, thickening of the basement membrane, medullary cysts (in some patients), glomerulosclerosis (in some patients), glomerulocystic kidney disease (in some patients), dilatation of Bowman’s space in glomeruli, rudimentary glomerular tufts, gout, hyperuricemia, decreased urinary excretion of uromodulin, onset of hyperuricemia or gout in young adulthood, slowly progressive disorder.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.91 | UMOD | Noor Al-Ali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.91 | UMOD | Noor Al-Ali reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: Other; Publications: (PMID: 23988501, 12471200, 32954071, 33397327, 23396133, 32450155); Phenotypes: Onset at adolescent or adult age, arterial hypertension (in some patients), renal insufficiency, nephropathy, renal failure, polydipsia, polyuria, impaired urinary concentration, chronic interstitial nephritis, tubulointerstitial abnormalities, tubular atrophy, interstitial fibrosis, hyaline material deposited around tubules, thickening of the basement membrane, medullary cysts (in some patients), glomerulosclerosis (in some patients), glomerulocystic kidney disease (in some patients), dilatation of Bowman’s space in glomeruli, rudimentary glomerular tufts, gout, hyperuricemia, decreased urinary excretion of uromodulin, onset of hyperuricemia or gout in young adulthood, slowly progressive disorder.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.0 | UMOD |
Zornitza Stark gene: UMOD was added gene: UMOD was added to Renal cystic disease_KidGen. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: UMOD was set to Unknown |
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