GBA1

Panel	Reviews	Mode of inheritance	Details
Filter panels 24 panels
Amber GBA1 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes {Lewy body dementia, susceptibility to} (MIM# 127750)
Green GBA1 in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Parkinson's disease, MONDO:0005180, GBA-related Tags new gene name
Green GBA1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal,MIM# 608013
Green GBA1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gaucher disease
Red GBA1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Gaucher disease, MIM#231000
Green GBA1 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease Tags new gene name
Green GBA1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal,MIM# 608013
Green GBA1 in Incidentalome Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Parkinson's disease, MONDO:0005180, GBA-related Tags new gene name adult onset neurodegenerative
Green GBA1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, type I, MIM# 230800
Green GBA1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gaucher disease, perinatal lethal, MIM# 608013 Gaucher disease, type I, MIM# 230800 Gaucher disease, type II, MIM# 230900 Gaucher disease, type III, MIM# 231000 Gaucher disease, type IIIC, MIM# 231005
Green GBA1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Gaucher disease, perinatal lethal, MIM# 608013 Gaucher disease, type I, MIM# 230800 Gaucher disease, type II, MIM# 230900 Gaucher disease, type III, MIM# 231000 Gaucher disease, type IIIC, MIM# 231005
Green GBA1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green GBA1 in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gaucher disease, type I MIM#230900
Amber GBA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Gaucher disease, type II 230900
Green GBA1 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gaucher disease, type III, MIM# 231000
Green GBA1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Gaucher disease, perinatal lethal, 608013 (3)
Green GBA1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Gaucher disease 1
Green GBA1 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gaucher disease, type II, MIM# 230900
Green GBA1 in Incidentalome_PREGEN_DRAFT Version 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green GBA1 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS Genomic Medicine Service Expert Review Green Genomics England PanelApp Phenotypes 230800 Gaucher disease, type I 230900 Gaucher disease, type II 231005 Gaucher disease, type IIIC 231000 Gaucher disease, type III
Green GBA1 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Gaucher disease, perinatal lethal, MIM# 608013
Amber GBA1 in Prepair 1000+ Level 2: Screening Version 3.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Gaucher disease, perinatal lethal, 608013 (3)
Green GBA1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Gaucher disease type 1, MIM#230800 Tags treatable metabolic technically challenging
Green GBA1 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Gaucher disease

GBA1

24 panels

Amber GBA1 in Early-onset Dementia

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Phenotypes

Green GBA1 in Early-onset Parkinson disease

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Phenotypes

Tags

Green GBA1 in Arthrogryposis

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Phenotypes

Green GBA1 in Bleeding and Platelet Disorders

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Phenotypes

Red GBA1 in Cerebral Palsy

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Phenotypes

Green GBA1 in Cholestasis

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Phenotypes

Tags

Green GBA1 in Hydrops fetalis

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Phenotypes

Green GBA1 in Incidentalome

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Phenotypes

Tags

Green GBA1 in Pulmonary Fibrosis_Interstitial Lung Disease

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Phenotypes

Green GBA1 in Lysosomal Storage Disorder

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Phenotypes

Green GBA1 in Genetic Epilepsy

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Phenotypes

Green GBA1 in Regression

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Green GBA1 in Additional findings_Adult

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Phenotypes

Amber GBA1 in Intellectual disability syndromic and non-syndromic

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Phenotypes

Green GBA1 in Dystonia and Chorea

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Phenotypes

Green GBA1 in Mackenzie's Mission_Reproductive Carrier Screening

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Phenotypes

Green GBA1 in Additional findings_Paediatric

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Phenotypes

Green GBA1 in Congenital ophthalmoplegia

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Phenotypes

Green GBA1 in Incidentalome_PREGEN_DRAFT

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Green GBA1 in Metal Metabolism Disorders

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Phenotypes

Green GBA1 in Fetal anomalies

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Phenotypes

Amber GBA1 in Prepair 1000+

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Phenotypes

Green GBA1 in Genomic newborn screening: BabyScreen+

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Phenotypes

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Green GBA1 in Transplant Co-Morbidity

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Phenotypes