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Early onset or syndromic epilepsy v2.380 DPM1 Arina Puzriakova Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie, 608799 to Congenital disorder of glycosylation, type Ie, OMIM:608799
Early onset or syndromic epilepsy v1.191 DPM1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DPM1.
Early onset or syndromic epilepsy v1.190 DPM1 Rebecca Foulger Source NHS GMS was added to DPM1.
Early onset or syndromic epilepsy v1.189 DPM1 Rebecca Foulger edited their review of gene: DPM1: 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 DPM1 Tracy Lester reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23856421; Phenotypes: Congenital disorder of glycosylation type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Marked gene: DPM1 as ready
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Gene: dpm1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Added comment: Comment on publications: Epilepsy is not reported in all patients. Severe epilepsy was not present in 2 French siblings with CDG1E, born of consanguineous Algerian parents, as reported Dancourt et al. (2006, PMID:16641202).
Early onset or syndromic epilepsy v0.1116 DPM1 Rebecca Foulger Publications for gene: DPM1 were set to 23856421; 10642597; 10642602
Early onset or syndromic epilepsy v0.1115 DPM1 Rebecca Foulger Classified gene: DPM1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1115 DPM1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza. Confirmed DD-G2P gene for congenital disorder of glycosylation, which can present with seizures. Sufficient cases of seizures in patients with CDG1E (MIM:608799) for inclusion on panel: 4 unrelated cases in PMIDs 23856421, 10642597 and 10642602, several of which are compound heterozygous for a substitution AND a deletion in DPM1.
Early onset or syndromic epilepsy v0.1115 DPM1 Rebecca Foulger Gene: dpm1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1114 DPM1 Rebecca Foulger Publications for gene: DPM1 were set to
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger commented on gene: DPM1: Imbach et al. (2000, PMID:10642602) report a brother and sister with severe developmental delay, repeated seizures, and dysmorphic features. Both sibs were compound heterozygous for the 274C>G (R92G) transversion and a 628delC deletion in DPM1.
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger commented on gene: DPM1: Kim et al., 2000 (PMID:10642597) report a patient with CDG1E and a homozygous 274C-G transversion in the DPM1 gene (p.R92G). Another unrelated patient was compound heterozygous for the R92G variant and a 13-bp deletion in exon 4 that may result in an unstable transcript. Both patients were recorded with medically intractable seizures
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger commented on gene: DPM1
Early onset or syndromic epilepsy v0.1113 DPM1 Rebecca Foulger Mode of inheritance for gene: DPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1112 DPM1 Rebecca Foulger Phenotypes for gene: DPM1 were changed from to Congenital disorder of glycosylation, type Ie, 608799
Early onset or syndromic epilepsy DPM1 Zornitza Stark reviewed gene: DPM1
Early onset or syndromic epilepsy DPM1 Sarah Leigh Added gene to panel