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Genetic epilepsy syndromes

Gene: PMM2

Green List (high evidence)

PMM2 (phosphomannomutase 2)
EnsemblGeneIds (GRCh38): ENSG00000140650
EnsemblGeneIds (GRCh37): ENSG00000140650
OMIM: 601785, Gene2Phenotype
PMM2 is in 22 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Eleanor Williams (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PMM2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PMM2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pmm2 has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pmm2 has been classified as Green List (High Evidence).

5 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pmm2 has been classified as Amber List (Moderate Evidence).

5 Dec 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal

5 Dec 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065

5 Dec 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PMM2 were set to

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PMM2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PMM2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PMM2 was created by Sarah Leigh