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Early onset or syndromic epilepsy v1.191 PMM2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PMM2.
Early onset or syndromic epilepsy v1.190 PMM2 Rebecca Foulger Source NHS GMS was added to PMM2.
Early onset or syndromic epilepsy v1.189 PMM2 Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1396 PMM2 Eleanor Williams Classified gene: PMM2 as Green List (high evidence)
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.
Early onset or syndromic epilepsy v0.1396 PMM2 Eleanor Williams Gene: pmm2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1395 PMM2 Eleanor Williams Classified gene: PMM2 as Green List (high evidence)
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.
Early onset or syndromic epilepsy v0.1395 PMM2 Eleanor Williams Gene: pmm2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1394 PMM2 Eleanor Williams Marked gene: PMM2 as ready
Early onset or syndromic epilepsy v0.1394 PMM2 Eleanor Williams Gene: pmm2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1394 PMM2 Eleanor Williams Mode of inheritance for gene: PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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
Early onset or syndromic epilepsy v0.1392 PMM2 Eleanor Williams Publications for gene: PMM2 were set to
Early onset or syndromic epilepsy v0.1391 PMM2 Eleanor Williams commented on gene: PMM2
Early onset or syndromic epilepsy PMM2 Zornitza Stark reviewed gene: PMM2
Early onset or syndromic epilepsy PMM2 Sarah Leigh Added gene to panel