Mitochondrial disease
Gene: SLC25A4

SLC25A4 (solute carrier family 25 member 4)
EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mitochondrial disorder presenting as encephalomyopathy but mostly myopathy, both mono-allelic and bi-allelic variants reported. Reviewed in PMID 30013777.
Created: 6 Apr 2022, 10:08 p.m. | Last Modified: 6 Apr 2022, 10:08 p.m.

Panel Version: 0.767

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283

Publications

Created: 6 Apr 2022, 10:08 p.m.
Last Modified: 6 Apr 2022, 10:08 p.m.
Panel version: 0.767

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283

OMIM

103220

Clinvar variants

Variants in SLC25A4

Penetrance

None

Publications

Panels with this gene