Inherited white matter disorders

Gene: BOLA3

Red List (low evidence)

BOLA3 (bolA family member 3)
EnsemblGeneIds (GRCh38): ENSG00000163170
EnsemblGeneIds (GRCh37): ENSG00000163170
OMIM: 613183, Gene2Phenotype
BOLA3 is in 12 panels

2 reviews

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)

Green List (high evidence)

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

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: bola3 has been classified as Red List (Low Evidence).

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: bola3 has been classified as Red List (Low Evidence).

23 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

BOLA3 was added to Inherited white matter disorders panel. Sources: Literature

23 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

BOLA3 was created by Zornitza Stark