Mitochondrial disease
Gene: SLC25A4
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
Gene: slc25a4 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC25A4 were changed from to 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 for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815
Publications for gene: SLC25A4 were set to
Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: SLC25A4 was added gene: SLC25A4 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A4 was set to Unknown