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| Paediatric or syndromic cardiomyopathy v0.43 | SLC25A4 | Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from biallelic to both monoallelic and biallelic to reflect the evidence in the literature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.43 | SLC25A4 | Ivone Leong Mode of inheritance for gene: SLC25A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | SLC25A4 | Ivone Leong reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | SLC25A4 | Ivone Leong Source NHS GMS was added to SLC25A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | SLC25A4 |
Ivone Leong gene: SLC25A4 was added gene: SLC25A4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A4 were set to 27604308 Phenotypes for gene: SLC25A4 were set to Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Disorders of mitochondrial protein transport; Hypertrophic cardiomyopathy; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Disorders of mitochondrial DNA maintenance and integrity |
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