Mitochondrial disorders

Gene: SLC52A3

Green List (high evidence)

The phenotype of resembles that of many mitochondrial disorders and Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.

Created: 23 Mar 2020, 3:42 a.m. | Last Modified: 23 Mar 2020, 3:42 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brown-Vialetto-Van Laere syndrome 1, MIM#211530

Publications

• 29053833
• 29193829

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.

Panel Version: 6.3

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 12 Oct 2023, 2:56 p.m. | Last Modified: 12 Oct 2023, 2:56 p.m.

Panel Version: 4.99

PMIDs 29053833 & 29193829 report a total of 11 unrelated cases of Brown-Vialetto-Van Laere syndrome 1 (OMIM:211530) carrying a total of 14 SLC52A3 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A3 variants, causes a mitochondrial dysfunction. Furthermore, the loss of the SLC52A2/SLC52A3 homologue in Drosophila melanogaster resulted in abnormal mitochondrial membrane potential, respiratory chain activity and morphology.
Nine of the SLC52A3 variants occur as either homozygotes or as compound heterozygotes in PMID: 29053833, a further five variants are seen as heterozygotes. The authors comment that the heterozygous individuals did not differ substantially in phenotype including age of presentation from the rest of the cohort of mutation-positive cases.

Created: 12 Oct 2023, 2:52 p.m. | Last Modified: 12 Oct 2023, 2:52 p.m.

Panel Version: 4.97

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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.

Panel Version: 1.412

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal