Inherited white matter disorders
Gene: BOLA3Comment on list classification: Promoted from Red to Green. This gene is associated with a relevant disorder in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association.Created: 2 Jun 2021, 2:05 p.m. | Last Modified: 2 Jun 2021, 2:05 p.m.
Panel Version: 1.108
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:02 p.m.
At least 5 unrelated patients described in the literature, leukodystrophy is a prominent feature of the phenotype.Created: 23 Jul 2018, 7:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: BOLA3 were set to 29654549; 29501406; 24334290; 21944046; 30302924; 29654549
Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046
Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299
Gene: bola3 has been classified as Green List (High Evidence).
Gene: bola3 has been classified as Red List (Low Evidence).
Gene: bola3 has been classified as Red List (Low Evidence).
BOLA3 was added to Inherited white matter disorders panel. Sources: Literature
BOLA3 was created by Zornitza Stark