Mitochondrial disorders
Gene: SLC52A2
The phenotype resembles that of many mitochondrial disorders. Reports of decreased electron transport chain complex I and complex II activity in SLC52A2 patient fibroblasts. Drosophila model implicates mitochondrial dysfunction as a downstream consequence of riboflavin transporter gene defects.Created: 23 Mar 2020, 3:40 a.m. | Last Modified: 23 Mar 2020, 3:40 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 2 MIM#614707
Publications
PMIDs 29053833 & 29193829 characterize six unrelated cases of Brown-Vialetto-Van Laere syndrome 2 (OMIM:614707) carrying a total of nine SLC52A2 variants. Functional studies and histological observations allow the authors to conclude that the resultant riboflavin transporter deficiency associated with the SLC52A2 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.Created: 12 Oct 2023, 11:41 a.m. | Last Modified: 12 Oct 2023, 2:46 p.m.
Panel Version: 4.97
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 12 Oct 2023, 10:44 a.m. | Last Modified: 12 Oct 2023, 10:44 a.m.
Panel Version: 4.96
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
Tag Q4_23_promote_green tag was added to gene: SLC52A2.
Gene: slc52a2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2, 614707 to Brown-Vialetto-Van Laere syndrome 2, OMIM:614707; brown-Vialetto-van Laere syndrome 2, MONDO:0013867
Publications for gene: SLC52A2 were set to
gene: SLC52A2 was added gene: SLC52A2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707