Genetic Epilepsy
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)

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate.

At least 3 unrelated families reported.
Created: 7 Dec 2021, 9:40 a.m. | Last Modified: 7 Dec 2021, 9:40 a.m.

Panel Version: 0.10166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Dec 2021, 9:40 a.m.
Last Modified: 7 Dec 2021, 9:40 a.m.
Panel version: Imported from Mendeliome panel version 0.10166

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299

OMIM

613183

Clinvar variants

Variants in BOLA3

Penetrance

None

Publications

Panels with this gene