Adult onset neurodegenerative disorder

Gene: GBA

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 4 May 2024, 5:32 p.m. | Last Modified: 4 May 2024, 5:32 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.

Created: 30 Jun 2022, 3:18 p.m. | Last Modified: 30 Jun 2022, 4:15 p.m.

Panel Version: 2.275

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

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

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

• 15525722
• 17620502

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

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.

Green List (high evidence)

Pseudogene would confound variant calling

Created: 23 Apr 2019, 5:31 p.m.