Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Early onset or syndromic epilepsy v1.191 BOLA3 Rebecca Foulger Source Wessex and West Midlands GLH was added to BOLA3.
Early onset or syndromic epilepsy v1.190 BOLA3 Rebecca Foulger Source NHS GMS was added to BOLA3.
Early onset or syndromic epilepsy v1.189 BOLA3 Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 BOLA3 Tracy Lester reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334290; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.733 BOLA3 Sarah Leigh Classified gene: BOLA3 as Green List (high evidence)
Early onset or syndromic epilepsy v0.733 BOLA3 Sarah Leigh Gene: bola3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Marked gene: BOLA3 as ready
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least one truncating variant reported in 2 ethnically diverse unrelated cases of Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299. Supportive in vitro studies show are also presented (PMID 24334290).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Gene: bola3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.732 BOLA3 Sarah Leigh Mode of inheritance for gene: BOLA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.730 BOLA3 Sarah Leigh Publications for gene: BOLA3 were set to
Early onset or syndromic epilepsy v0.722 BOLA3 Sarah Leigh Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299
Early onset or syndromic epilepsy BOLA3 Zornitza Stark reviewed gene: BOLA3
Early onset or syndromic epilepsy BOLA3 Sarah Leigh Added gene to panel