06 Aug 2019
Early onset or syndromic epilepsy v1.191
PMM2
Rebecca Foulger Source Wessex and West Midlands GLH was added to PMM2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PMM2
Rebecca Foulger Source NHS GMS was added to PMM2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PMM2
Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
PMM2
Tracy Lester reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26453362; Phenotypes: Congenital disorder of glycosylation, 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Dec 2018
Early onset or syndromic epilepsy v0.1396
PMM2
Eleanor Williams Classified gene: PMM2 as Green List (high evidence)
05 Dec 2018
Early onset or syndromic epilepsy v0.1396
PMM2
Eleanor Williams Added comment: Comment on list classification: > 3 cases of variants in this gene associated with the phenotype, and presenting with seizures.
05 Dec 2018
Early onset or syndromic epilepsy v0.1396
PMM2
Eleanor Williams Gene: pmm2 has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1395
PMM2
Eleanor Williams Classified gene: PMM2 as Green List (high evidence)
05 Dec 2018
Early onset or syndromic epilepsy v0.1395
PMM2
Eleanor Williams Added comment: Comment on list classification: > 3 cases associating variants in this gene with the phenotype and presenting with seizures.
05 Dec 2018
Early onset or syndromic epilepsy v0.1395
PMM2
Eleanor Williams Gene: pmm2 has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1394
PMM2
Eleanor Williams Marked gene: PMM2 as ready
05 Dec 2018
Early onset or syndromic epilepsy v0.1394
PMM2
Eleanor Williams Gene: pmm2 has been classified as Amber List (Moderate Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1394
PMM2
Eleanor Williams Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
05 Dec 2018
Early onset or syndromic epilepsy v0.1393
PMM2
Eleanor Williams Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia 212065
05 Dec 2018
Early onset or syndromic epilepsy v0.1392
PMM2
Eleanor Williams Publications for gene: PMM2 were set to
05 Dec 2018
Early onset or syndromic epilepsy v0.1391
PMM2
Eleanor Williams commented on gene: PMM2
19 Aug 2018
Early onset or syndromic epilepsy
PMM2
Zornitza Stark reviewed gene: PMM2
25 Jun 2018
Early onset or syndromic epilepsy
PMM2
Sarah Leigh Added gene to panel