GBA

glucosylceramidase beta
OMIM: 606463
PanelMode of inheritanceDetails
12 panels
R-numbers: R56
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
{Parkinson disease, late-onset, susceptibility to}, OMIM:168600
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, perinatal lethal 608013
R-numbers: R90
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
230900 Gaucher disease, type II, 231005 Gaucher disease, type IIIC, 231000 Gaucher disease, type III, 230800 Gaucher disease, type I
R-numbers: R57
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, perinatal lethal, 608013, Gaucher disease, type I, 230800, Gaucher disease, type II, 230900, Gaucher disease, type III 231000, Gaucher disease, type IIIC, 231005
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, perinatal lethal 608013, Gaucher disease, type I 230800, Gaucher disease, type II 230900, Gaucher disease, type III 231000, Gaucher disease, type IIIC 231005
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GAUCHER DISEASE TYPE 3 231000, GAUCHER DISEASE PERINATAL LETHAL 608013, GAUCHER DISEASE 230800, GAUCHER DISEASE TYPE 1 230800, GAUCHER DISEASE TYPE 2 230900, GAUCHER DISEASE TYPE 3C 231005
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GAUCHER DISEASE TYPE 3C, GAUCHER DISEASE TYPE 1, GAUCHER DISEASE PERINATAL LETHAL, GAUCHER DISEASE TYPE 3, GAUCHER DISEASE, GAUCHER DISEASE TYPE 2
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, perinatal lethal, 608013, Gaucher disease, type II, 230900, Gaucher disease, type III, 231000, Gaucher disease, type IIIC, 231005, seizures
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: miscellaneous, Gauchers type 1, Myeloma Lymphoma Hepatocellular carcinoma
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, perinatal lethal, 608013, Gaucher disease, type III, 231000, Gaucher disease, type II, 230900, Gaucher disease, type I, 230800, Gaucher disease, type IIIC, 231005, Gaucher disease, Gaucher disease (Sphingolipidoses)
R-numbers: R96
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
230900 Gaucher disease, type II, 231005 Gaucher disease, type IIIC, 231000 Gaucher disease, type III, 230800 Gaucher disease, type I
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease, type I OMIM:230800, Gaucher disease type I MONDO:0009265, Gaucher disease, type III OMIM:231000, Gaucher disease type III MONDO:0009267, Gaucher disease, type IIIC OMIM:231005, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268, Gaucher disease, perinatal lethal OMIM:608013, Gaucher disease perinatal lethal MONDO:0011945, Gaucher disease, type II OMIM:230900, Gaucher disease type II MONDO:0009266