Cystic kidney disease
Gene: GANABComment on list classification: Two green expert reviews, and more than 3 unrelated families reported.Created: 15 Aug 2017, 1:03 p.m.
Recently identified gene causing mild PKD in 8 families and variable, including severe, PLD in 2 families.Created: 20 Feb 2017, 3:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mild polycystic kidney disease; Polycystic Liver disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Newly recognised genetic cause of ADPKD/ADPLDCreated: 6 Dec 2016, 6:37 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mild cystic kidney and liver disease
Publications
This gene has been classified as Green List (High Evidence).
Publications for 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, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet 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 IIα 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.
Publications for 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, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet 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 IIα 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 GANAB were set to Mild cystic kidney and liver disease;Polycyctic kidney disease 3
This gene has been classified as Amber List (Moderate Evidence).
GANAB was added to Cystic kidney diseasepanel. Sources: Expert Review
GANAB was created by jasayer