Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Early onset or syndromic epilepsy v1.455 QDPR Rebecca Foulger Classified gene: QDPR as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.455 QDPR Rebecca Foulger Gene: qdpr has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.454 QDPR Rebecca Foulger commented on gene: QDPR: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.422 QDPR Rebecca Foulger Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 to Hyperphenylalaninemia, BH4-deficient, C, 261630; DHPR deficiency
Early onset or syndromic epilepsy v1.421 QDPR Rebecca Foulger Publications for gene: QDPR were set to 9341885; 26006720
Early onset or syndromic epilepsy v1.420 QDPR Rebecca Foulger commented on gene: QDPR: Seizures listed in the OMIM Clinical synopsis for 'Hyperphenylalaninemia, BH4-deficient, C' (MIM:261630).
Early onset or syndromic epilepsy v1.420 QDPR Rebecca Foulger commented on gene: QDPR: Ikeda et al. (1997, PMID:9341885) report a Japanese boy with hyperphenylalaninemia and a splicing error variant in QDPR. He was the offspring of first-cousin parents. The patient showed intractable seizures and developmental delay.
Early onset or syndromic epilepsy v1.191 QDPR Rebecca Foulger Source Wessex and West Midlands GLH was added to QDPR.
Early onset or syndromic epilepsy v1.190 QDPR Rebecca Foulger Source NHS GMS was added to QDPR.
Early onset or syndromic epilepsy v1.189 QDPR Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 QDPR Tracy Lester reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperphenylalaninemia BH4-deficient, 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Marked gene: QDPR as ready
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 16 variants reported as in unrelated cases. PMID 26006720 reports seizures in 83% (20 cases) of Hyperphenylalaninemia, BH4-deficient, C, 261630.
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Gene: qdpr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Classified gene: QDPR as Green List (high evidence)
Early onset or syndromic epilepsy v0.1139 QDPR Sarah Leigh Gene: qdpr has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1138 QDPR Sarah Leigh Publications for gene: QDPR were set to
Early onset or syndromic epilepsy v0.1137 QDPR Sarah Leigh Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, 261630
Early onset or syndromic epilepsy v0.1136 QDPR Sarah Leigh Mode of inheritance for gene: QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy QDPR Zornitza Stark reviewed gene: QDPR
Early onset or syndromic epilepsy QDPR Sarah Leigh Added gene to panel