Mitochondrial disorders
Gene: SLC25A32

SLC25A32 (solute carrier family 25 member 32)
EnsemblGeneIds (GRCh38): ENSG00000164933
EnsemblGeneIds (GRCh37): ENSG00000164933
OMIM: 610815, Gene2Phenotype
SLC25A32 is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 23 May 2019, 3:33 p.m.

Treatable tag was added based on reports in PMID: 26933868 and 28443623, that riboflavin treatment was effective.
Created: 23 May 2019, 3:32 p.m.

Created: 23 May 2019, 3:32 p.m.

Panel version: 1.360

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

?Exercise intolerance, riboflavin-responsive 616839

Tags

treatable gene-checked

OMIM

610815

Clinvar variants

Variants in SLC25A32

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: SLC25A32.

23 May 2019, Gel status: 3