Genes in panel

Neurodegenerative disorders - adult onset

Gene: GBA

Amber List (moderate evidence)

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease, type II - Median age at onset was 2.5 years (range 8 months to 14.5 years). Gaucher disease type IIIC is a variant of subacute neuronopathic Gaucher disease type III, onset in childhood. Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Perinatal lethal Gaucher disease is considered to be a distinct form of type II Gaucher disease. Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Possible association with Lewy body dementia and parkinsonism. Red at the moment
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Parkinson disease, late-onset, susceptibility to}, 168600; Gaucher disease, type I, 230800

Arianna Tucci (Genomics England Curator)

I don't know

Rated as AMBER following the WebEx discussion on 27/07/2019 with GLH representatives offering testing and interpretation for this panel. The consensus was reached as monoallelic variants in GBA do not cause highly penetrant forms of Parkinson disease.
Created: 26 Jul 2019, 5:30 p.m. | Last Modified: 26 Jul 2019, 5:30 p.m.
Panel Version: 1.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Parkinson disease, late-onset, susceptibility to}, 168600; Gaucher disease, type I, 230800

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call Friday 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber. Rating changed from Green to Amber
Created: 13 Aug 2019, 1:06 p.m. | Last Modified: 13 Aug 2019, 1:19 p.m.
Panel Version: 1.98
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Pseudogene would confound variant calling
Created: 23 Apr 2019, 5:31 p.m.

History Filter Activity

2 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to GBA.

13 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gba has been classified as Amber List (Moderate Evidence).

23 Jul 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene GBA were changed from 29400127; 27779773; 27632223; 27648471; 27717005 to 29400127; 27779773; 15525722; 17620502; 27648471; 27632223; 27717005

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GBA.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GBA.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GBA.

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: amended

18 Dec 2018, Gel status: 4

Added Tag

Rebecca Foulger (Genomics England curator)

Tag treatable tag was added to gene: GBA.

18 Dec 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes Gaucher disease, type I, 230800 for gene: GBA

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GBA was added gene: GBA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GBA were set to 29400127; 27779773; 27632223; 27648471; 27717005 Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600