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Early onset or syndromic epilepsy v1.191 DPAGT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DPAGT1.
Early onset or syndromic epilepsy v1.190 DPAGT1 Rebecca Foulger Source NHS GMS was added to DPAGT1.
Early onset or syndromic epilepsy v1.189 DPAGT1 Rebecca Foulger edited their review of gene: DPAGT1: 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 DPAGT1 Tracy Lester reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22304930, 12872255, 23249953 ; Phenotypes: Congenital disorder of glycosylation type Ij, 608093, Myasthenic syndrome congenital, 13 with tubular aggregates, 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Marked gene: DPAGT1 as ready
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Gene: dpagt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Classified gene: DPAGT1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review. Confirmed DD-G2P gene for Congenital disorder of glycosylation (CDG), which can present with seizures. Sufficient cases of seizures from the literature (3 cases from PMIDs:22304930, 23249953, 12872255) for inclusion on panel.
Early onset or syndromic epilepsy v0.1111 DPAGT1 Rebecca Foulger Gene: dpagt1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1110 DPAGT1 Rebecca Foulger commented on gene: DPAGT1: In a patient with central disorder of glycosylation type Ij, Wu et al. (2003, PMID:12872255) identified reduced DPAGT1 enzymatic activity. In the paternal allele, a variant Y170C was identified. Although no variant was identified in the maternal allele, it produced only 12% of the normal amount of mRNA. She had severe hypotonia and medically intractable seizures amongst her phenotypes.
Early onset or syndromic epilepsy v0.1110 DPAGT1 Rebecca Foulger commented on gene: DPAGT1: In a Pakistani brother and sister born of unrelated patients with a mild form of CDG Ij, Iqbal et al. (2013, PMID:23249953) identified compound heterozygous mutations in the DPAGT1 gene (I29F and L168P). The patients had normal psychomotor development until ages 2 and 5 years, respectively, when they both developed seizures, hypotonia, and aggressive behavior. Seizures and additional phenotypes continued into adulthood.
Early onset or syndromic epilepsy v0.1110 DPAGT1 Rebecca Foulger commented on gene: DPAGT1
Early onset or syndromic epilepsy v0.1095 DPAGT1 Rebecca Foulger Mode of inheritance for gene: DPAGT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1094 DPAGT1 Rebecca Foulger Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, 608093
Early onset or syndromic epilepsy DPAGT1 Zornitza Stark reviewed gene: DPAGT1
Early onset or syndromic epilepsy DPAGT1 Sarah Leigh Added gene to panel