Likely inborn error of metabolism - targeted testing not possible
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.
Source NHS GMS was added to BOLA3. Source London North GLH was added to BOLA3.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Added phenotypes Disorders of iron homeostasis; Multiple Mitochondrial Dysfunctions Syndrome; Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple mitochondrial dysfunctions syndrome 2, 614299; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: BOLA3 Publications for gene BOLA3 were changed from to 27604308
gene: BOLA3 was added gene: BOLA3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366); Multiple Mitochondrial Dysfunctions Syndrome; Multiple mitochondrial dysfunctions syndrome 2, 614299; Disorders of iron homeostasis