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 1.2

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 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Green GBA in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
Phenotypes
  • Class: miscellaneous
  • Gauchers type 1
  • Myeloma Lymphoma Hepatocellular carcinoma

Green GBA in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.17

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

Green GBA in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.28

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

Green GBA in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

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

Green GBA in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Gaucher disease, type I, 230800
  • Gaucher disease with associated Pulmonary Fibrosis

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

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

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

Amber GBA in Cholestasis


Version 1.84
Latest signed off version: v1.21 (20 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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
  • for-review

Green GBA in Lysosomal storage disorder


Version 1.70
Latest signed off version: v1.2 (18 Feb 2020)

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

Green GBA in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.159

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

Green GBA in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.15
Latest signed off version: v2.2 (18 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: miscellaneous
  • Gauchers type 1
  • Myeloma Lymphoma Hepatocellular carcinoma

Green GBA in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.98
Latest signed off version: v3.2 (13 Feb 2020)

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

Green GBA in Bleeding and platelet disorders


Version 1.26
Latest signed off version: v1.2 (3 Mar 2020)

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

Green GBA in Iron metabolism disorders


Version 1.33
Latest signed off version: v1.2 (3 Mar 2020)

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

Amber GBA in Neurodegenerative disorders - adult onset


Version 2.174
Latest signed off version: v2.31 (8 Oct 2020)

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

Green GBA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.457

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

Green GBA in Inborn errors of metabolism


Version 2.133
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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)

    Green GBA in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    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

    Green GBA in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Green GBA in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.343
    Latest signed off version: v2.2 (13 Feb 2020)

    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

    Amber GBA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1074
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green GBA in Adult onset movement disorder


    Version 1.113
    Latest signed off version: v1.14 (15 Oct 2020)

    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

    Green GBA in Childhood onset dystonia or chorea or related movement disorder


    Version 1.103
    Latest signed off version: v1.58 (6 Oct 2020)

    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

    Green GBA in Severe Paediatric Disorders


    Version 1.77

    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