Early onset or syndromic epilepsy
Gene: GM2A
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. 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
Inclusion in this gene panel may help with Atypical juvenile presentation of GM2 gangliosidosisCreated: 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
GM2-gangliosidosis, AB variant, 272750
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.Created: 16 Nov 2018, 4:07 p.m.
Comment on publications: Publications added support gene-disease association and rating of this gene to Green.Created: 16 Nov 2018, 4:06 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 16 Nov 2018, 3:37 p.m.
Seizures are part of the phenotype.Created: 14 Aug 2018, 10:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, AB variant, MIM#272750
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to GM2A.
Source NHS GMS was added to GM2A.
Zornitza Stark: Seizures are part of the pheno
Gene: gm2a has been classified as Green List (High Evidence).
Gene: gm2a has been classified as Green List (High Evidence).
Publications for gene: GM2A were set to
Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant, 272750; seizures to GM2-gangliosidosis, AB variant, 272750; seizures; Hexosaminidase activator deficiency; Tay-Sachs disease
Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750; seizures
Mode of inheritance for gene: GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to GM2A. Panel: Genetic Epilepsy Syndromes
GM2A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
GM2A was created by Sarah Leigh