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| Paediatric or syndromic cardiomyopathy v0.23 | AARS2 | Ivone Leong Publications for gene: AARS2 were set to 25058219; PMID: 21549344 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.16 | AARS2 | Ivone Leong reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | AARS2 | Ivone Leong Source NHS GMS was added to AARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | AARS2 |
Ivone Leong gene: AARS2 was added gene: AARS2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 25058219; PMID: 21549344 Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096; infantile mitochondrial cardiomyopathy; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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