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| Unexplained young onset end-stage renal disease v0.2 | GANAB | Eleanor Williams reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | GANAB |
Eleanor Williams gene: GANAB was added gene: GANAB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GANAB were set to Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Ba ales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audr zet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Mutations in GANAB, Encoding the Glucosidase II Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2; 98(6):1193-207. doi: 10.1016/j.ajhg.2016.05.004. PubMed PMID: 27259053, PubMed Central PMCID: PMC4908191. Phenotypes for gene: GANAB were set to Mild cystic kidney and liver disease; Polycyctic kidney disease 3 |
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