1. Panels
  2. Possible mitochondrial disorder - nuclear genes
  3. SLC25A32
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Possible mitochondrial disorder - nuclear genes

Gene: SLC25A32

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment 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.
Created: 10 May 2019, 2:11 p.m.

Panel version: 0.171

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Exercise intolerance, riboflavin-responsive, 616839

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ivone Leong (Genomics England Curator)

I don't know

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

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

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.

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: slc25a32 has been classified as Green List (High Evidence).

10 May 2019, Gel status: 2

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag treatable tag was added to gene: SLC25A32.

10 May 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: SLC25A32 were set to

4 Feb 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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