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  3. SLC25A4
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Cardiomyopathy_Paediatric

Gene: SLC25A4

Green List (high evidence)
SLC25A4 (solute carrier family 25 member 4)
EnsemblGeneIds (GRCh38): ENSG00000151729
EnsemblGeneIds (GRCh37): ENSG00000151729
OMIM: 103220, Gene2Phenotype
SLC25A4 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HCM as part of a mitochondrial disorder.
Created: 29 Jul 2020, 10:36 a.m. | Last Modified: 29 Jul 2020, 10:36 a.m.
Panel Version: 0.0

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283

Created: 29 Jul 2020, 10:36 a.m.
Last Modified: 29 Jul 2020, 10:36 a.m.
Panel version: 0.0

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Associated with mitochondrial DNA depletion syndrome for which HCM is a feature. Not associated with isolated HCM.
Created: 29 Jul 2020, 6:48 a.m. | Last Modified: 29 Jul 2020, 6:48 a.m.
Panel Version: 0.0

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283

Publications

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

Created: 29 Jul 2020, 6:48 a.m.
Last Modified: 29 Jul 2020, 6:48 a.m.
Panel version: 0.0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
  • Hypertrophic cardiomyopathy
  • Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Disorders of mitochondrial protein transport
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283
OMIM
103220
Clinvar variants
Variants in SLC25A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a4 has been classified as Green List (High Evidence).

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A4 was added gene: SLC25A4 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: SLC25A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Hypertrophic cardiomyopathy; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283