Genomics England

GBA

glucosylceramidase beta

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Gaucher disease, perinatal lethal 608013
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	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
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	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 3.0	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 3.79	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
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 4.134	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	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
Green in Gaucher disease R-numbers: R272 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Class: miscellaneous, Gauchers type 1, Myeloma Lymphoma Hepatocellular carcinoma
Green in Iron metabolism disorders - NOT common HFE mutations R-numbers: R96 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Gaucher disease, type II OMIM:230900, Gaucher disease, type IIIC OMIM:231005, Gaucher disease, type III OMIM:231000, Gaucher disease, type I OMIM:230800
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	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)
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	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