Hypertrophic cardiomyopathy

Gene: SLC25A4

Red List (low evidence)

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

Red List (low evidence)

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

• 25732997
• 27532257

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

• 16155110
• doi:10.​1007/​s12265-016-9673-5