Inherited white matter disorders
Gene: BOLA3EnsemblGeneIds (GRCh38): ENSG00000163170
EnsemblGeneIds (GRCh37): ENSG00000163170
OMIM: 613183, Gene2Phenotype
BOLA3 is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:02 p.m.
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299
- OMIM
- 613183
- Clinvar variants
- Variants in BOLA3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: BOLA3 were set to 29654549; 29501406; 24334290; 21944046; 30302924; 29654549
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: BOLA3 were set to 29654549, 29501406, 24334290, 21944046
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, OMIM:614299
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: bola3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: bola3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: bola3 has been classified as Red List (Low Evidence).
Added New Source
Zornitza Stark (Australian Genomics)BOLA3 was added to Inherited white matter disorders panel. Sources: Literature
Created
Zornitza Stark (Australian Genomics)BOLA3 was created by Zornitza Stark