06 Aug 2019
Early onset or syndromic epilepsy v1.191
BOLA3
Rebecca Foulger Source Wessex and West Midlands GLH was added to BOLA3.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
BOLA3
Rebecca Foulger Source NHS GMS was added to BOLA3.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
BOLA3
Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
12 Nov 2018
Early onset or syndromic epilepsy v0.733
BOLA3
Sarah Leigh Classified gene: BOLA3 as Green List (high evidence)
12 Nov 2018
Early onset or syndromic epilepsy v0.733
BOLA3
Sarah Leigh Gene: bola3 has been classified as Green List (High Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.732
BOLA3
Sarah Leigh Marked gene: BOLA3 as ready
12 Nov 2018
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).
12 Nov 2018
Early onset or syndromic epilepsy v0.732
BOLA3
Sarah Leigh Gene: bola3 has been classified as Amber List (Moderate Evidence).
12 Nov 2018
Early onset or syndromic epilepsy v0.732
BOLA3
Sarah Leigh Mode of inheritance for gene: BOLA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
12 Nov 2018
Early onset or syndromic epilepsy v0.730
BOLA3
Sarah Leigh Publications for gene: BOLA3 were set to
12 Nov 2018
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
08 Aug 2018
Early onset or syndromic epilepsy
BOLA3
Zornitza Stark reviewed gene: BOLA3
25 Jun 2018
Early onset or syndromic epilepsy
BOLA3
Sarah Leigh Added gene to panel