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| Cardiomyopathy_Paediatric v0.134 | ACADVL | Zornitza Stark Tag treatable tag was added to gene: ACADVL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | ACADVL |
Zornitza Stark gene: ACADVL was added gene: ACADVL was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADVL were set to 27604308; 24285112; 9973285; National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp Phenotypes for gene: ACADVL were set to Liver disease, hepatomegaly, hypoketotic hypoglycaemia; Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form); DCM, mixed; syndromic HCM; VLCAD deficiency; HCM |
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