GBA

glucosylceramidase beta
OMIM: 606463, Gene2Phenotype

26 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 26 panels
Green GBA in Mucopolysaccharideosis, Gaucher, Fabry Level 3: Lysosomal storage disorders Level 2: Metabolic disorders Version 1.2	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Gaucher disease Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 Gaucher disease, perinatal lethal, 608013
Red GBA in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.21	review	Not set	Sources Emory Genetics Laboratory
Green GBA in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Gauchers type 1 Myeloma Lymphoma Hepatocellular carcinoma Tags new-gene-name
Green GBA in Neonatal cholestasis Level 3: Liver disease Level 2: Gastroenterological disorders Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 Tags new-gene-name
Green GBA in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gaucher disease Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 Gaucher disease, perinatal lethal, 608013 Tags new-gene-name
Green GBA in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes {Parkinson disease, late-onset, susceptibility to}, 168600 Tags treatable new-gene-name
Green GBA in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Phenotypes Gaucher disease, type I, 230800 Gaucher disease with associated Pulmonary Fibrosis Tags new-gene-name
Red GBA in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Gaucher disease, type I, 230800
Green GBA in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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 Tags new-gene-name
Green GBA in Lysosomal storage disorder Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH 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 Tags new-gene-name
Green GBA in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gaucher disease Gaucher disease, perinatal lethal, 608013 Gaucher disease, type I, 230800 Gaucher disease, type II,230800 Gaucher disease, type III, 230800 Gaucher disease, type IIIC, 231005 Tags new-gene-name
Green GBA in Haematological malignancies cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes Class: miscellaneous Gauchers type 1 Myeloma Lymphoma Hepatocellular carcinoma Tags new-gene-name
Green GBA in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Gaucher disease, perinatal lethal 608013 Tags new-gene-name
Green GBA in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 230900 Gaucher disease, type II 231005 Gaucher disease, type IIIC 231000 Gaucher disease, type III 230800 Gaucher disease, type I Tags new-gene-name
Green GBA in Iron metabolism disorders - NOT common HFE mutations Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH NHS GMS Expert Review Green Wessex and West Midlands GLH 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 Tags new-gene-name
Amber GBA in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Gaucher disease, type I, OMIM:230800 Tags treatable new-gene-name
Green GBA in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gaucher disease (Sphingolipidoses) Gaucher disease Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 Gaucher disease, perinatal lethal, 608013 Tags new-gene-name
Green GBA in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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) Tags new-gene-name
Green GBA in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes GAUCHER DISEASE TYPE 3C GAUCHER DISEASE TYPE 1 GAUCHER DISEASE PERINATAL LETHAL GAUCHER DISEASE TYPE 3 GAUCHER DISEASE GAUCHER DISEASE TYPE 2 Tags new-gene-name
Green GBA in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype 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 Tags new-gene-name
Green GBA in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal, 608013 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Gaucher disease, type IIIC, 231005 seizures Tags new-gene-name
Amber GBA in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gaucher disease, type I, 230800 Gaucher disease, type II, 230900 Gaucher disease, type III, 231000 Tags new-gene-name
Green GBA in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Phenotypes {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 Tags to_be_confirmed_NHSE new-gene-name
Green GBA in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH 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 Tags new-gene-name
Green GBA in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Gaucher disease, perinatal lethal, 608013 Gaucher disease, type III, 231000 Gaucher disease, type I, 230800 Gaucher disease, type IIIC, 231005 Gaucher disease, type II, 230900 Tags new-gene-name
Green GBA in Gaucher disease Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Tags new-gene-name

GBA

26 panels

Green GBA in Mucopolysaccharideosis, Gaucher, Fabry

Sources

Phenotypes

Red GBA in Hyperammonaemia

Sources

Green GBA in Haematological malignancies for rare disease

Sources

Phenotypes

Tags

Green GBA in Neonatal cholestasis

Sources

Phenotypes

Tags

Green GBA in Fetal hydrops

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Phenotypes

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Green GBA in Parkinson Disease and Complex Parkinsonism

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Phenotypes

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Green GBA in Familial pulmonary fibrosis

Sources

Phenotypes

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Red GBA in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Sources

Phenotypes

Green GBA in Cholestasis

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Phenotypes

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Green GBA in Lysosomal storage disorder

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Phenotypes

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Green GBA in Inherited bleeding disorders

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Phenotypes

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Green GBA in Haematological malignancies cancer susceptibility

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Phenotypes

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Green GBA in Arthrogryposis

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Phenotypes

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Green GBA in Bleeding and platelet disorders

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Phenotypes

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Green GBA in Iron metabolism disorders - NOT common HFE mutations

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Phenotypes

Tags

Amber GBA in Adult onset neurodegenerative disorder

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Phenotypes

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Green GBA in Undiagnosed metabolic disorders

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Phenotypes

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Green GBA in Likely inborn error of metabolism - targeted testing not possible

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Phenotypes

Tags

Green GBA in Fetal anomalies

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Phenotypes

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Green GBA in DDG2P

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Phenotypes

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Green GBA in Early onset or syndromic epilepsy

Sources