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  3. BOLA3
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Fetal anomalies

Gene: BOLA3

Amber List (moderate evidence)
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)

I don't know

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.

Onset is typically post-natal, although neonatal cardiomyopathy reported in one family.
Created: 7 Dec 2021, 9:38 a.m. | Last Modified: 7 Dec 2021, 9:38 a.m.
Panel Version: 0.1121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 7 Dec 2021, 9:38 a.m.
Last Modified: 7 Dec 2021, 9:38 a.m.
Panel version: 0.1121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
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

7 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bola3 has been classified as Amber List (Moderate Evidence).

7 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299

7 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BOLA3 were set to

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp 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