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  3. SLC25A32
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Rhabdomyolysis and Metabolic Myopathy

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

5 cases with MADD from 4 unrelated families (4 homozygotes & 1 chet) and a supporting mouse model. At least 2 cases and the mouse model had exercise intolerance.
Sources: Literature
Created: 11 Jul 2024, 4:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Exercise intolerance, riboflavin-responsive MONDO:0014795

Publications

Created: 11 Jul 2024, 4:32 a.m.

Panel version: 1.5

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported with functional data. Muscle biopsy showed ragged-red fibers and lipid storage mainly in type I oxidative fibers, small type II fibers, and poor immunostaining for succinate dehydrogenase (FAD-dependent mitochondrial respiratory chain complex II). Oral supplementation with riboflavin led to dramatic improvement in the clinical and biologic abnormalities.
Sources: Expert list
Created: 18 Mar 2020, 1:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Exercise intolerance, riboflavin-responsive, MIM# 616839

Publications

Created: 18 Mar 2020, 1:51 a.m.

Panel version: Imported from Mendeliome panel version 0.1744

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • Exercise intolerance, riboflavin-responsive MONDO:0014795
OMIM
610815
Clinvar variants
Variants in SLC25A32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Jul 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Jul 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC25A32 was added gene: SLC25A32 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature Mode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A32 were set to 26933868; 35727412; 34764427; 28443623 Phenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive MONDO:0014795 Review for gene: SLC25A32 was set to GREEN