06 Aug 2019
Early onset or syndromic epilepsy v1.191
BTD
Rebecca Foulger Source Wessex and West Midlands GLH was added to BTD.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
BTD
Rebecca Foulger Source NHS GMS was added to BTD.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
BTD
Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
12 Nov 2018
Early onset or syndromic epilepsy v0.750
BTD
Sarah Leigh Marked gene: BTD as ready
12 Nov 2018
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.
12 Nov 2018
Early onset or syndromic epilepsy v0.750
BTD
Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.750
BTD
Sarah Leigh Classified gene: BTD as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.750
BTD
Sarah Leigh Gene: btd has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.749
BTD
Sarah Leigh Publications for gene: BTD were set to 24075304; 4073853; 3196050
12 Nov 2018
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
12 Nov 2018
Early onset or syndromic epilepsy v0.747
BTD
Sarah Leigh Publications for gene: BTD were set to
12 Nov 2018
Early onset or syndromic epilepsy v0.746
BTD
Sarah Leigh Mode of inheritance for gene: BTD was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Nov 2018
Early onset or syndromic epilepsy v0.745
BTD
Sarah Leigh Phenotypes for gene: BTD were changed from to Biotinidase deficiency 253260
08 Aug 2018
Early onset or syndromic epilepsy
BTD
Zornitza Stark reviewed gene: BTD
04 Apr 2018
Early onset or syndromic epilepsy
BTD
Sarah Leigh Added gene to panel