Adult onset neurodegenerative disorder
Gene: GBAAdded 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
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 momentCreated: 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
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
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
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 AmberCreated: 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.
Pseudogene would confound variant callingCreated: 23 Apr 2019, 5:31 p.m.
Publications for gene: GBA were set to 29400127; 27779773; 15525722; 17620502; 27648471; 27632223; 27717005
Tag new-gene-name tag was added to gene: GBA.
Phenotypes for gene: GBA were changed from {Parkinson disease, late-onset, susceptibility to}, 168600; Gaucher disease, type I, 230800 to {Parkinson disease, late-onset, susceptibility to}, OMIM:168600; Gaucher disease, type I, OMIM:230800
Source Wessex and West Midlands GLH was added to GBA.
Gene: gba has been classified as Amber List (Moderate Evidence).
Publications for gene GBA were changed from 29400127; 27779773; 27632223; 27648471; 27717005 to 29400127; 27779773; 15525722; 17620502; 27648471; 27632223; 27717005
Source Yorkshire and North East GLH was added to GBA.
Source NHS GMS was added to GBA.
Source London North GLH was added to GBA.
Louise Daugherty: Comment on phenotypes: amended
Tag treatable tag was added to gene: GBA.
Added phenotypes Gaucher disease, type I, 230800 for gene: GBA
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