Early onset or syndromic epilepsy
Gene: PMM2
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
AR congenital disorder of glycosylation type Ia - most prevalent form. Seizures have been reported as a feature. Fiumara et al, 2016 - epilepsy uncommon presenting in 2 (11%) of the 17 genetically confirmed cases. Schiff et al, 2017 - follow up of 96 French patients with PMM2-CDG - epilepsy in 32/92 patients.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
Congenital disorder of glycosylation, 212065
Publications
Comment on list classification: > 3 cases of variants in this gene associated with the phenotype, and presenting with seizures.Created: 5 Dec 2018, 12:01 p.m.
Comment on list classification: > 3 cases associating variants in this gene with the phenotype and presenting with seizures.Created: 5 Dec 2018, 12:01 p.m.
Associated with Congenital disorder of glycosylation, type Ia in OMIM and Gene2Phenotype.
Numerous variants reported. In PMID:26453362 (Fiumara et al 2016) epilepsy was reported in 2 out of 17 cases of PMM2-CDG. In PMID: 28954837 (Schiff et al 2017) epilepsy was noted in 32 out of 96 patients with PMM2-CDG.Created: 5 Dec 2018, 11:57 a.m.
Seizures are part of the phenotype of this metabolic disorder.Created: 19 Aug 2018, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ia, MIM#212065
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to PMM2.
Source NHS GMS was added to PMM2.
Zornitza Stark: Seizures are part of the pheno
Gene: pmm2 has been classified as Green List (High Evidence).
Gene: pmm2 has been classified as Green List (High Evidence).
Gene: pmm2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
Publications for gene: PMM2 were set to
Expert Review Amber was added to PMM2. Panel: Genetic Epilepsy Syndromes
PMM2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PMM2 was created by Sarah Leigh