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  3. SLC25A4
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Hypertrophic cardiomyopathy_HCM

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 11 panels

1 review

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, 3:14 a.m. | Last Modified: 29 Jul 2020, 3:15 a.m.
Panel Version: 0.89

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, 3:14 a.m.
Last Modified: 29 Jul 2020, 3:15 a.m.
Panel version: 0.89

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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
OMIM
103220
Clinvar variants
Variants in SLC25A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a4 has been classified as Red List (Low Evidence).

29 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A4 were changed from 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 to 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

29 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A4 were changed from to 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

29 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A4 were set to

29 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A4 was added gene: SLC25A4 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A4 was set to Unknown