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Early onset or syndromic epilepsy v1.191 MPDU1 Rebecca Foulger Source Wessex and West Midlands GLH was added to MPDU1.
Early onset or syndromic epilepsy v1.190 MPDU1 Rebecca Foulger Source NHS GMS was added to MPDU1.
Early onset or syndromic epilepsy v1.189 MPDU1 Rebecca Foulger edited their review of gene: MPDU1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 MPDU1 Tracy Lester reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11733556; Phenotypes: Congenital disorder of glycosylation, type If, 609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.32 MPDU1 Rebecca Foulger Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If, 609180 to Congenital disorder of glycosylation, type If, 609180; seizures
Early onset or syndromic epilepsy v0.1320 MPDU1 Rebecca Foulger Marked gene: MPDU1 as ready
Early onset or syndromic epilepsy v0.1320 MPDU1 Rebecca Foulger Gene: mpdu1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1320 MPDU1 Rebecca Foulger Classified gene: MPDU1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1320 MPDU1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza plus sufficient (>3) cases of seizures in CDG patients with MPDU1 variants from PMIDs:11733556, 11733564 and 28122681.
Early onset or syndromic epilepsy v0.1320 MPDU1 Rebecca Foulger Gene: mpdu1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1319 MPDU1 Rebecca Foulger Publications for gene: MPDU1 were set to
Early onset or syndromic epilepsy v0.1318 MPDU1 Rebecca Foulger commented on gene: MPDU1: PMID:28122681 (Al Teneiji et al. 2017) report 15 patients, 1 of which had MPDU1-CDG. The patient had a homozygous c.218G>A (p.G73E) variant in MPDU1, and seizures were reported amongst the phenotypes (Table 2).
Early onset or syndromic epilepsy v0.1316 MPDU1 Rebecca Foulger commented on gene: MPDU1: Schenk et al 2001 (PMID:11733564) report 3 unrelated patients with congenital disorder of glycosylation CDG-If, and variants in MPDU1. Patient S had severed intractable seizures from birth, which worsened up to his death age 10 months. Patient A had generalized seizures from age 15 months that responded well to valproate (listed as generalized febrile seizures in Table 1). Patient L had hypertonic attacks in infancy.
Early onset or syndromic epilepsy v0.1316 MPDU1 Rebecca Foulger commented on gene: MPDU1
Early onset or syndromic epilepsy v0.1316 MPDU1 Rebecca Foulger Mode of inheritance for gene: MPDU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1315 MPDU1 Rebecca Foulger Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, 609180
Early onset or syndromic epilepsy MPDU1 Zornitza Stark reviewed gene: MPDU1
Early onset or syndromic epilepsy MPDU1 Sarah Leigh Added gene to panel