Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Early onset or syndromic epilepsy v1.191 BTD Rebecca Foulger Source Wessex and West Midlands GLH was added to BTD.
Early onset or syndromic epilepsy v1.190 BTD Rebecca Foulger Source NHS GMS was added to BTD.
Early onset or syndromic epilepsy v1.189 BTD Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 BTD Tracy Lester reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: 24075304, 25423671 ; Phenotypes: Biotinidase deficiency, 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Marked gene: BTD as ready
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported 18 cases of Biotinidase deficiency 253260 that include seizures as part of the phenotype.
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Classified gene: BTD as Green List (high evidence)
Early onset or syndromic epilepsy v0.750 BTD Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.749 BTD Sarah Leigh Publications for gene: BTD were set to 24075304; 4073853; 3196050
Early onset or syndromic epilepsy v0.747 BTD Sarah Leigh Added comment: Comment on publications: PMID 24075304 mouse model, with seizures, PMIDs 4073853;3196050, seizures in patients
Early onset or syndromic epilepsy v0.747 BTD Sarah Leigh Publications for gene: BTD were set to
Early onset or syndromic epilepsy v0.746 BTD Sarah Leigh Mode of inheritance for gene: BTD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.745 BTD Sarah Leigh Phenotypes for gene: BTD were changed from to Biotinidase deficiency 253260
Early onset or syndromic epilepsy BTD Zornitza Stark reviewed gene: BTD
Early onset or syndromic epilepsy BTD Sarah Leigh Added gene to panel