Molecular autopsy
Gene: SLC25A4EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 15 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: Because Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418 is also relevant to this panel.Created: 23 Jun 2020, 2:56 p.m. | Last Modified: 23 Jun 2020, 2:58 p.m.
Panel Version: 0.102
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
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- North West GLH
- Expert Review Green
- Phenotypes
-
- Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
- Disorders of mitochondrial protein transport
- Hypertrophic cardiomyopathy
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283)
- Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
- Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
- Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
- Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184)
- 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
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Childhood onset dystonia, chorea or related movement disorder
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Mitochondrial disorders
- Congenital myopathy
- Hypertrophic cardiomyopathy
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Sudden death in young people
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Source London South GLH was added to SLC25A4.
Added New Source, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Source North West GLH was added to SLC25A4. 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 27604308 to 25732997; 27532257
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: SLC25A4 were changed from Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Hypertrophic cardiomyopathy; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Hypertrophic cardiomyopathy; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport for gene: SLC25A4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 for gene: SLC25A4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SLC25A4 was added gene: SLC25A4 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNADeletions; Disorders of mitochondrial protein transport; Disorders of mitochondrial DNA maintenance and integrity; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418