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| Cardiomyopathy_Paediatric v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Amber,MetBioNet Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 27604308 Phenotypes for gene: MMACHC were set to Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap; Methylmalonic aciduria; DCM; Methylmalonic aciduria and homocystinuria, cblC type, 277400; Hypertrophic-hypocontractile cardiomyopathy |
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| Cardiomyopathy_Paediatric v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CBL were set to 19571318; 20543203; 20619386 Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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