GANAB

glucosidase II alpha subunit
OMIM: 104160
PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mild cystic kidney and liver disease, Polycyctic kidney disease 3
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 3, OMIM:600666, Polycystic kidney disease 3 with or without polycystic liver disease, MONDO:0010916
R-numbers: R173
Signed-off version 1.26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 3, OMIM:600666
R-numbers: R257
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mild cystic kidney and liver disease, Polycyctic kidney disease 3