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  3. BOLA3
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Regression

Gene: BOLA3

Red List (low 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)

Green List (high evidence)

At least 5 unrelated families reported. Clinical course is characterised by regression.
Sources: Literature
Created: 1 Dec 2022, 7:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 1 Dec 2022, 7:51 a.m.

Panel version: 0.513

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
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: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BOLA3 was added gene: BOLA3 was added to Regression. Sources: Literature Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BOLA3 were set to 24334290; 29654549; 21944046; 22562699; 26741492; 24334290 Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299) Review for gene: BOLA3 was set to GREEN