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| Renal Macrocystic Disease v0.100 | HNF1B | Zornitza Stark commented on gene: HNF1B: LoF is the established mechanism of disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.100 | HNF1B | Zornitza Stark Marked gene: HNF1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.100 | HNF1B | Zornitza Stark Gene: hnf1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.100 | HNF1B | Zornitza Stark Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.99 | HNF1B | Zornitza Stark Publications for gene: HNF1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.98 | HNF1B | Zornitza Stark Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.97 | HNF1B | Zornitza Stark Tag SV/CNV tag was added to gene: HNF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.97 | HNF1B | Zornitza Stark reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.91 | HNF1B | Noor Al-Ali reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 39114399, 38044981, 29576871, 33305128, 25700310, 22432796); Phenotypes: Congenital anomalies of the kidney and urinary tract (CAKUT), chronic renal failure, structural kidney abnormalities, unilateral kidney agenesis, renal cysts, renal hypoplasia, renal parenchymal disease, interstitial fibrosis, cortical atrophy, abnormal nephrogenesis, decreased numbers of glomeruli, enlarged glomeruli, glomerular tufts, glomerular cysts, oligomeganephronia, abnormal renal calyces, abnormal renal pelvises, pelviureteric junction obstruction, hypoplastic glomerulocystic kidney disease, reduced fractional excretion of uric acid, renal calculi, diabetes mellitus, impaired glucose tolerance, glucosuria, proteinuria, increased serum creatinine, hyperuricemia.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.91 | HNF1B | Noor Al-Ali Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.91 | HNF1B | Noor Al-Ali reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: (PMID: 39114399, 38044981, 29576871, 33305128, 25700310, 22432796); Phenotypes: Congenital anomalies of the kidney and urinary tract (CAKUT), chronic renal failure, structural kidney abnormalities, unilateral kidney agenesis, renal cysts, renal hypoplasia, renal parenchymal disease, interstitial fibrosis, cortical atrophy, abnormal nephrogenesis, decreased numbers of glomeruli, enlarged glomeruli, glomerular tufts, glomerular cysts, oligomeganephronia, abnormal renal calyces, abnormal renal pelvises, pelviureteric junction obstruction, hypoplastic glomerulocystic kidney disease, reduced fractional excretion of uric acid, renal calculi, diabetes mellitus, impaired glucose tolerance, glucosuria, proteinuria, increased serum creatinine, hyperuricemia.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.0 | HNF1B |
Zornitza Stark gene: HNF1B was added gene: HNF1B was added to Renal cystic disease_KidGen. Sources: KidGen_Cystic v38.1.0,Expert Review Green Mode of inheritance for gene: HNF1B was set to Unknown |
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