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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 5 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.

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Exercise intolerance, riboflavin-responsive, 616839
Tags
treatable
OMIM
610815
Clinvar variants
Variants in SLC25A32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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