Mitochondrial disorders
Gene: BOLA3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 8 Feb 2016, 11:14 a.m.
Victorian Clinical Genetics Services was added to BOLA3. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for BOLA3 were set to Disorders of iron homeostasis; Multiple mitochondrial dysfunctions syndrome 2, 614299; Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple Mitochondrial Dysfunctions Syndrome
Mode of inheritance for BOLA3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene BOLA3 was changed to BIALLELIC, autosomal or pseudoautosomal
BOLA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene BOLA3 was changed to BIALLELIC, autosomal or pseudoautosomal
BOLA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene BOLA3 was changed to BIALLELIC, autosomal or pseudoautosomal
BOLA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
BOLA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services