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  3. BOLA3
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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.

Generally causes neurodevelopmental regression, included here due to phenotypic overlap.
Created: 1 Dec 2022, 7:48 a.m. | Last Modified: 1 Dec 2022, 7:48 a.m.
Panel Version: 0.5064

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)

Created: 1 Dec 2022, 7:48 a.m.
Last Modified: 1 Dec 2022, 7:48 a.m.
Panel version: 0.5064

Layla Zhu (Melbourne University, Centre for Cancer Research)

Green List (high evidence)

- Compound heterozygous variants (one nonsense mutation p.Arg46* and one rare missense mutation p.Cys59Tyr) detected in probing with acute right hemiparesis, ataxia and loss of speech and language skills at 18 months of age (PMID: 29654549)
- Homozygous nonsense mutation (p.Arg46*) detected in 3 unrelated probands. The patients died at ages 7 months, 22 months, and 11 years. The 11-year-old child lost the ability to walk and became non-verbal from ages 3 to 8 years. (PMID: 24334290)

- Mitochondrial dysfunction is linked to intellectual disability-related diseases (PMID: 24548784). Fibroblasts from probands carrying either homozygous loss of function variants or compound heterozygous variants showed mitochondrial dysfunctions manifested as deficiency of respiratory chain complexes and defect of the pyruvate dehydrogenase complex in cell-based assays (PMID: 24334290; PMID: 29654549; PMID: 21944046; PMID: 22562699; PMID: 26741492).
Created: 1 Dec 2022, 5:32 a.m. | Last Modified: 1 Dec 2022, 5:32 a.m.
Panel Version: 0.5064

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)

Publications

Created: 1 Dec 2022, 5:32 a.m.
Last Modified: 1 Dec 2022, 5:32 a.m.
Panel version: 0.5064

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)
OMIM
613183
Clinvar variants
Variants in BOLA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, 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).

1 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)

1 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BOLA3 were set to

1 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BOLA3 was added gene: BOLA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BOLA3 was set to Unknown