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Inborn errors of metabolism v1.47 BOLA3 Ivone Leong Source NHS GMS was added to BOLA3.
Source London North GLH was added to BOLA3.
Inborn errors of metabolism v0.4 BOLA3 Ellen McDonagh 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
Inborn errors of metabolism v0.4 BOLA3 Ellen McDonagh 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