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| Hypertrophic cardiomyopathy v1.53 | SLC25A4 | Rebecca Whittington commented on gene: SLC25A4: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | SLC25A4 | Rebecca Whittington commented on gene: SLC25A4: AR or AD mitochondrial gene with a key feature of HCM but very severe and infantile presentation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.51 | SLC25A4 | Rebecca Whittington reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.45 | SLC25A4 |
Ellen McDonagh 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 |
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| Hypertrophic cardiomyopathy v1.42 | SLC25A4 | James Eden reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: ; Publications: 25732997, 27532257; 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); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.41 | SLC25A4 |
Ellen McDonagh 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 |
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