Cardiomyopathies - including childhood onsetGene: SLC25A4
Comment on mode of inheritance: MOI changed from biallelic to both monoallelic and biallelic to reflect the evidence in the literature.
Created: 3 Dec 2019, 9:46 a.m. | Last Modified: 3 Dec 2019, 9:46 a.m.
Panel Version: 0.43
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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#609283
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. 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_409
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to SLC25A4.
gene: SLC25A4 was added gene: SLC25A4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport; Hypertrophic cardiomyopathy; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Disorders of mitochondrial DNA maintenance and integrity