Sudden cardiac death - previous panel
Gene: SLC25A4EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 15 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
James Eden (Manchester)
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 ICC, 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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
- Disorders of mitochondrial protein transport
- Hypertrophic cardiomyopathy
- Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
- Disorders of mitochondrial DNA maintenance and integrity
- OMIM
- 103220
- Clinvar variants
- Variants in SLC25A4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Arthrogryposis
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Hypertrophic cardiomyopathy
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Sudden death in young people
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SLC25A4 was added gene: SLC25A4 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH,London South GLH Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27532257; 25732997 Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283); Disorders of mitochondrial protein transport; Hypertrophic cardiomyopathy; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418); Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Disorders of mitochondrial DNA maintenance and integrity