Cystic kidney disease
Gene: GANAB

GANAB (glucosidase II alpha subunit)
EnsemblGeneIds (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.

Created: 15 Aug 2017, 1:03 p.m.

Panel version: 1.11

Miranda Durkie (Genetics)

Green List (high evidence)

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

27259053

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Feb 2017, 3:09 p.m.

Panel version: 1.2

John Sayer (Newcastle University)

Green List (high evidence)

Newly recognised genetic cause of ADPKD/ADPLD
Created: 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.

Created: 6 Dec 2016, 6:36 p.m.

Panel version: 1.0

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

Complete

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.

Panels with this gene