Hypertrophic cardiomyopathy
Gene: SLC25A4
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)Created: 25 Mar 2019, 4:30 p.m.
AR or AD mitochondrial gene with a key feature of HCM but very severe and infantile presentation.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 17 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: no stated association with HCM, definitive association with mitochondrial DNA depletion syndrome 12 (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Created: 19 Feb 2016, 11:56 a.m.
Publications
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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source North West GLH was added to SLC25A4. Mode of inheritance for gene SLC25A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 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) for gene: SLC25A4 Publications for gene SLC25A4 were changed from to 25732997; 27532257
SLC25A4 was created by ellenmcdonagh
SLC25A4 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature