Cardiomyopathy_Paediatric
Gene: SLC25A4
HCM as part of a mitochondrial disorder.Created: 29 Jul 2020, 10:36 a.m. | Last Modified: 29 Jul 2020, 10:36 a.m.
Panel Version: 0.0
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
Associated with mitochondrial DNA depletion syndrome for which HCM is a feature. Not associated with isolated HCM.Created: 29 Jul 2020, 6:48 a.m. | Last Modified: 29 Jul 2020, 6:48 a.m.
Panel Version: 0.0
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
Variants in this GENE are reported as part of current diagnostic practice
Gene: slc25a4 has been classified as Green List (High Evidence).
gene: SLC25A4 was added gene: SLC25A4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283