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| Paediatric or syndromic cardiomyopathy v0.16 | SLC25A20 | Ivone Leong reviewed gene: SLC25A20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | SLC25A20 | Ivone Leong Source NHS GMS was added to SLC25A20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | SLC25A20 |
Ivone Leong gene: SLC25A20 was added gene: SLC25A20 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A20 were set to 27604308 Phenotypes for gene: SLC25A20 were set to Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; Carnitine-acylcarnitine translocase deficiency 212138; Carnitine acylcarnitines translocase deficiency CAT; HCM, DCM; Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) |
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