1. Genes and Genomic Entities
  2. GBA

GBA

glucosylceramidase beta
OMIM: 606463, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels
Green GBA in Mucopolysaccharideosis, Gaucher, Fabry

Level 3: Lysosomal storage disorders
Level 2: Metabolic disorders
Version 1.5

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 1.22

review Not set
Sources
  • Emory Genetics Laboratory
Green GBA in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

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 1.29

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 1.95

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 1.128

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 1.32

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 1.84

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gaucher disease, type I, 230800
Green GBA in Cholestasis


Level 2: Gastrohepatology
Version 3.19
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


Level 2: Metabolic
Version 3.5
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 1.182

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 2: Cancer susceptibility
Version 4.37
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 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Gaucher disease, perinatal lethal 608013
Tags
  • new-gene-name
Green GBA in Bleeding and platelet disorders


Level 2: Haematology
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Haematology
Version 3.4
Latest signed off version: v3.0 (30 Apr 2025)

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
Green GBA in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • 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 1.642

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


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Neurology
    Version 8.123
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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


    Level 2: Developmental disorders
    Version 9.281
    Latest signed off version: v9.0 (30 Apr 2025)

    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


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
    Tags
    • new-gene-name
    Green GBA in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		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 Gaucher disease


    Level 2: Metabolic
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Gaucher disease, type I, OMIM:230800
    • Gaucher disease, type II, OMIM:230900
    • Gaucher disease, type III, OMIM:231000
    • Gaucher disease, type IIIC, OMIM:231005
    • Gaucher disease, perinatal lethal, OMIM:608013
    Tags
    • new-gene-name