Hypertrophic cardiomyopathy - teen and adult

Gene: SLC25A4

Red List (low evidence)

SLC25A4 (solute carrier family 25 member 4)
EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 16 panels

3 reviews

Rebecca Whittington (South West GLH)

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

James Eden (Manchester)

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

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
  • North West GLH
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
  • Hypertrophic cardiomyopathy
OMIM
103220
Clinvar variants
Variants in SLC25A4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

14 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

19 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC25A4 was created by ellenmcdonagh

19 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A4 was added to Hypertrophic Cardiomyopathypanel. Sources: Literature