Early onset or syndromic epilepsy

Gene: PMM2

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 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

• 26453362

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.

Green List (high evidence)

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