Mitochondrial DNA maintenance disorder
Gene: SLC25A4
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. Gene Symbol submitted: SLC25A4; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184
Publications
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: SLC25A4 was added gene: SLC25A4 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 27693233 Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418