Leukodystrophy - paediatric
Gene: BOLA3

BOLA3 (bolA family member 3)
EnsemblGeneIds (GRCh38): ENSG00000163170
EnsemblGeneIds (GRCh37): ENSG00000163170
OMIM: 613183, Gene2Phenotype
BOLA3 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Leukodystrophy is a prominent feature of this mitochondrial disorder.
Created: 15 Sep 2020, 9:49 a.m. | Last Modified: 15 Sep 2020, 9:49 a.m.

Panel Version: 0.178

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299

Publications

Created: 15 Sep 2020, 9:49 a.m.
Last Modified: 15 Sep 2020, 9:49 a.m.
Panel version: 0.178

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299

OMIM

613183

Clinvar variants

Variants in BOLA3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bola3 has been classified as Green List (High Evidence).

15 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BOLA3 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BOLA3 was added gene: BOLA3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299

Leukodystrophy - paediatric Gene: BOLA3