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Early onset or syndromic epilepsy v1.442 GCH1 Rebecca Foulger Classified gene: GCH1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.442 GCH1 Rebecca Foulger Gene: gch1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.441 GCH1 Rebecca Foulger commented on gene: GCH1: 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 v1.411 GCH1 Rebecca Foulger Publications for gene: GCH1 were set to 7869202; 17407085; 12552057; 7730309; 31202265
Early onset or syndromic epilepsy v1.410 GCH1 Rebecca Foulger Publications for gene: GCH1 were set to 7869202; 17407085; 12552057; 7730309
Early onset or syndromic epilepsy v1.409 GCH1 Rebecca Foulger commented on gene: GCH1: Additional evidence for seizures being part of the metabolic disorder comes from PMID:31202265 (Dayasiri et al, 2019) who report a S. Asian child with AR GTPCH (GCH1) deficiency, diagnosed from metabolic testing and family consanguinity. Features included recurrent seizures since 3 months old.
Early onset or syndromic epilepsy v1.409 GCH1 Rebecca Foulger Publications for gene: GCH1 were set to 7869202; 17407085; 12552057
Early onset or syndromic epilepsy v1.191 GCH1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GCH1.
Early onset or syndromic epilepsy v1.190 GCH1 Rebecca Foulger Source NHS GMS was added to GCH1.
Early onset or syndromic epilepsy v1.189 GCH1 Rebecca Foulger reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GCH1 Tracy Lester reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 7730309, 29948246; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230, Hyperphenylalaninemia, BH4-deficient, B 233910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Marked gene: GCH1 as ready
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Gene: gch1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Classified gene: GCH1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.997 GCH1 Louise Daugherty Gene: gch1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.996 GCH1 Louise Daugherty Mode of inheritance for gene: GCH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.995 GCH1 Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.995 GCH1 Louise Daugherty Publications for gene: GCH1 were set to
Early onset or syndromic epilepsy v0.991 GCH1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.991 GCH1 Louise Daugherty Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, 233910; seizures
Early onset or syndromic epilepsy GCH1 Zornitza Stark reviewed gene: GCH1
Early onset or syndromic epilepsy GCH1 Sarah Leigh Added gene to panel