Genomics England
GMS Panels
Panels
Genes and Entities

GANAB

glucosidase II alpha subunit
OMIM: 104160
PanelMode of inheritanceDetails
4 panels
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 4.19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mild cystic kidney and liver disease, Polycyctic kidney disease 3
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
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
Green
in Polycystic liver disease
R-numbers: R173
Signed-off version 1.26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic kidney disease 3, OMIM:600666
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mild cystic kidney and liver disease, Polycyctic kidney disease 3