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Early onset or syndromic epilepsy v1.191 D2HGDH Rebecca Foulger Source Wessex and West Midlands GLH was added to D2HGDH.
Early onset or syndromic epilepsy v1.190 D2HGDH Rebecca Foulger Source NHS GMS was added to D2HGDH.
Early onset or syndromic epilepsy v1.189 D2HGDH Rebecca Foulger edited their review of gene: D2HGDH: 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 D2HGDH Tracy Lester reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 15609246, 26178471 ; Phenotypes: D-2-hydroxyglutaric aciduria, 600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.980 D2HGDH Rebecca Foulger Marked gene: D2HGDH as ready
Early onset or syndromic epilepsy v0.980 D2HGDH Rebecca Foulger Gene: d2hgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.980 D2HGDH Rebecca Foulger Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721; generalized tonic-clonic seizures; absence seizures; tonic seizures; tonic-clonic seizures; myoclonic seizures, to D-2-hydroxyglutaric aciduria, 600721; generalized tonic-clonic seizures; absence seizures; tonic seizures; tonic-clonic seizures; myoclonic seizures
Early onset or syndromic epilepsy v0.979 D2HGDH Rebecca Foulger Phenotypes for gene: D2HGDH were changed from D-2-hydroxyglutaric aciduria, 600721 to D-2-hydroxyglutaric aciduria, 600721; generalized tonic-clonic seizures; absence seizures; tonic seizures; tonic-clonic seizures; myoclonic seizures,
Early onset or syndromic epilepsy v0.978 D2HGDH Rebecca Foulger Classified gene: D2HGDH as Green List (high evidence)
Early onset or syndromic epilepsy v0.978 D2HGDH Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Green review, and as Zornitza reports, epilepsy is a phenotype of D-2-hydroxyglutaric aciduria. Sufficient unrelated epileptic cases from the literature (2 from PMID:15609246 and 1 from PMID:16037974) to support a diagnostic rating.
Early onset or syndromic epilepsy v0.978 D2HGDH Rebecca Foulger Gene: d2hgdh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.977 D2HGDH Rebecca Foulger commented on gene: D2HGDH: Struys et al 2005 (PMID:15609246) report two unrelated patients affected with severe D-2-hydroxyglutaric aciduria and disease-causing variants in D2HGDH. Patient one suffered tonic, tonic-clonic, and myoclonic seizures, and was homozygous for missense variant in D2HGDH (c.1331T-->C; p.Val444Ala). Patient 2 presented with generalized tonic-clonic seizures and infantile spasms amongst her symptoms. She was compound heterozygous for a missense mutation (c.440T-->G; p.Ile147Ser) and a splice-site mutation (IVS1-23A-->G) that resulted in a null allele.
Early onset or syndromic epilepsy v0.977 D2HGDH Rebecca Foulger commented on gene: D2HGDH
Early onset or syndromic epilepsy v0.970 D2HGDH Rebecca Foulger Mode of inheritance for gene: D2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.969 D2HGDH Rebecca Foulger Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria, 600721
Early onset or syndromic epilepsy D2HGDH Zornitza Stark reviewed gene: D2HGDH
Early onset or syndromic epilepsy D2HGDH Sarah Leigh Added gene to panel