White matter disorders and cerebral calcification - narrow panel
Gene: BOLA3
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant disorder in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.Created: 2 Jun 2021, 2:04 p.m. | Last Modified: 2 Jun 2021, 2:04 p.m.
Panel Version: 1.140
Leukodystrophy is a prominent feature of this mitochondrial disorder.Created: 15 Sep 2020, 9:51 a.m. | Last Modified: 15 Sep 2020, 9:51 a.m.
Panel Version: 1.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: BOLA3.
Source NHS GMS was added to BOLA3. Source Expert Review Green was added to BOLA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: BOLA3.
Publications for gene: BOLA3 were set to 29654549; 29501406; 24334290; 21944046; 30302924; 29654549
Gene: bola3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299
Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046
Checked against super panel made up of the panel constituents. Ready to promote to version 1
gene: BOLA3 was added gene: BOLA3 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046