Possible mitochondrial disorder - nuclear genes
Gene: SLC25A32Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 2:11 p.m.
Added the 'treatable' tag - in both PMID: 26933868 and 28443623, riboflavin treatment was effective.Created: 10 May 2019, 2:11 p.m.
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Exercise intolerance, riboflavin-responsive, 616839
Publications
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Exercise intolerance, riboflavin-responsive, 616839
Tag gene-checked tag was added to gene: SLC25A32.
Gene: slc25a32 has been classified as Green List (High Evidence).
Tag treatable tag was added to gene: SLC25A32.
Publications for gene: SLC25A32 were set to
gene: SLC25A32 was added gene: SLC25A32 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A32 were set to ?Exercise intolerance, riboflavin-responsive, 616839