Early onset or syndromic epilepsy

Gene: GBA

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, 4:16 p.m.

Panel Version: 2.542

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AR Gaucher disease - many types nonneuronopathic type I, acute neuronopathic type II and subacute neuropathic type III and IIIc, and perinatal lethal type.Type I is the most common and lacks primary CNS involvement, types II and III have CNS involvement and neurological manifestations. Types associated with seizures II, IIIa, IIIc (Chabas et al, 1995 - 3 Spanish sisters - tonic clonic seizues in one of these - hom variant detected) and perinatal lethal - according to OMIM. Mignot et al, 2003 - clinical data of 37 cases of perinatal lethal Gaucher - seizures reported in Lui et al 1998, case 1 and 2 (paper ref from panelapp)

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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; {Lewy body dementia, susceptibility to} 127750; {Parkinson disease, late-onset, susceptibility to} 168600

Publications

• 15329082
• 18338393

Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association

Created: 20 Nov 2018, 5:31 p.m.

Comment on publications: Added publications to support upgrading of the gene to Green

Created: 20 Nov 2018, 5:10 p.m.

Comment on mode of inheritance: Added MOI from external clinical review and publications

Created: 20 Nov 2018, 5:02 p.m.

Comment on phenotypes: Added phenotypes suggested from expert review and reviewed literature that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel

Created: 20 Nov 2018, 5:01 p.m.

Green List (high evidence)

Seizures are part of the phenotype of neuronopathic and perinatal lethal Gaucher.

Created: 14 Aug 2018, 12:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaucher disease, typeII, MIM#230900

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