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Gene: BOLA3

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterised 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.

MMDS2 has only a few reports, but at least 3 unrelated families reported.
Created: 25 Oct 2024, 1:18 a.m. | Last Modified: 25 Oct 2024, 1:18 a.m.
Panel Version: 1.486

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299

Publications

Created: 25 Oct 2024, 1:18 a.m.
Last Modified: 25 Oct 2024, 1:18 a.m.
Panel version: 1.486

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

31 Oct 2024, 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).

31 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BOLA3 were changed from Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299

31 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BOLA3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BOLA3 was added gene: BOLA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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, 614299 (3)