Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Early onset or syndromic epilepsy v1.191 GOSR2 Rebecca Foulger Source Wessex and West Midlands GLH was added to GOSR2.
Early onset or syndromic epilepsy v1.190 GOSR2 Rebecca Foulger Source NHS GMS was added to GOSR2.
Early onset or syndromic epilepsy v1.189 GOSR2 Rebecca Foulger reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GOSR2 Tracy Lester reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549339, 30363482 ; Phenotypes: Epilepsy, progressive myoclonic, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Marked gene: GOSR2 as ready
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Gene: gosr2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty commented on gene: GOSR2: added founder-effect tag. Even though there is a founder effect in this population, there is further evidence for it being the gene of interest by the fact that there is more than one variant identified so supports a green rating on the current evidence.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Tag founder-effect tag was added to gene: GOSR2.
Early onset or syndromic epilepsy v0.901 GOSR2 Louise Daugherty Classified gene: GOSR2 as Green List (high evidence)
Early onset or syndromic epilepsy v0.901 GOSR2 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 v0.901 GOSR2 Louise Daugherty Gene: gosr2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.900 GOSR2 Louise Daugherty edited their review of gene: GOSR2: Added comment: External review notes that there are Corbett et al., 2011 (PMID: 21549339) reported five unrelated individuals reported with bi-allelic variants and denoted a founder effect.
To date, 17 reported patients with GOSR2‐mediated Progressive myoclonic epilepsy have been shown to carry the same homozygous c.430G>T (p.G144W) mutation, the result of a founder effect 21549339, 23449775, 24458321. However, Praschberger et al., (2015) PMID: 30363482 described a 61‐year‐old female patient suffering from progressive myoclonus epilepsy and was found to be compound heterozygous for the known c.430G>T and a novel c.491_493delAGA (p.K164del) GOSR2 mutation.; Changed rating: GREEN
Early onset or syndromic epilepsy v0.900 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321; 27618868
Early onset or syndromic epilepsy v0.899 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to 21549339; 30363482; 24458321
Early onset or syndromic epilepsy v0.898 GOSR2 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review and additional publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.898 GOSR2 Louise Daugherty Publications for gene: GOSR2 were set to
Early onset or syndromic epilepsy v0.897 GOSR2 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 v0.897 GOSR2 Louise Daugherty Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, 614018
Early onset or syndromic epilepsy v0.896 GOSR2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI suggested by external review, confirmed with OMIM/publications
Early onset or syndromic epilepsy v0.896 GOSR2 Louise Daugherty Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy GOSR2 Zornitza Stark reviewed gene: GOSR2
Early onset or syndromic epilepsy GOSR2 Sarah Leigh Added gene to panel