Previous cardiomyopathies - including childhood onset
Gene: SLC25A4
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD OMIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR OMIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 OMIM#609283Created: 25 Mar 2019, 4:30 p.m.
AR or AD mitochondrial gene with a key feature of HCM but very severe and infantile presentation. Review: On the Inherited Cardiac Condition Genes panel for Hypertrophic cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. AD presentation is severe mitochondrial disease with infants requiring ventilation, later onset AR form is associated with HCM and more adult onset: Korver-Keularts JIMD Reports DOI 10.1007/8904_2015_409Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source South West GLH was added to SLC25A4. Mode of inheritance for gene SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Green List (high evidence) to Green List (high evidence)
Sarah Leigh: Associated with relevant pheno
Phenotypes for gene: SLC25A4 were changed from Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Hypertrophic cardiomyopathy; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport
Gene: slc25a4 has been classified as Green List (High Evidence).
Mode of inheritance for gene: SLC25A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Red was added to SLC25A4. Mode of inheritance for gene SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown Added phenotypes Hypertrophic cardiomyopathy for gene: SLC25A4 Rating Changed from Green List (high evidence) to Red List (low evidence)
Added phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 for gene: SLC25A4
gene: SLC25A4 was added gene: SLC25A4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418