Mitochondrial disorders
Gene: SLC52A2

SLC52A2 (solute carrier family 52 member 2)
EnsemblGeneIds (GRCh38): ENSG00000185803
EnsemblGeneIds (GRCh37): ENSG00000185803
OMIM: 607882, Gene2Phenotype
SLC52A2 is in 16 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 23 Mar 2020, 3:40 a.m.
Last Modified: 23 Mar 2020, 3:40 a.m.
Panel version: 2.5

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to 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

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 12 Oct 2023, 2:46 p.m.
Panel version: 6.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Brown-Vialetto-Van Laere syndrome 2, OMIM:614707
brown-Vialetto-van Laere syndrome 2, MONDO:0013867

OMIM

607882

Clinvar variants

Variants in SLC52A2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: SLC52A2.

2 May 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SLC52A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Oct 2023, Gel status: 2