Renal and urinary tract disorders
Gene: GANABEnsemblGeneIds (GRCh38): ENSG00000089597
EnsemblGeneIds (GRCh37): ENSG00000089597
OMIM: 104160, Gene2Phenotype
GANAB is in 4 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two green expert reviews, and more than 3 unrelated families reported.Created: 15 Aug 2017, 1:03 p.m.
Miranda Durkie (Genetics)
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
John Sayer (Newcastle University)
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
- 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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mild cystic kidney and liver disease
- Polycyctic kidney disease 3
- OMIM
- 104160
- Clinvar variants
- Variants in GANAB
- Penetrance
- None
- Publications
-
- 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.
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)John Sayer: Newly recognised genetic cause
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GANAB was added gene: GANAB was added to Renal and urinary tract disorders. 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