Previous cardiomyopathies - including childhood onset
Gene: CPT2
Comment on publications: 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.aspCreated: 18 Apr 2019, noon
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; HCM, mixed; DCM
Publications
OMIM#600649 CPT II deficiency, infantile; OMIM#608836 CPT II deficiency, lethal neonatal;OMIM#255110 CPT II deficiency, myopathic, stress-induced; OMIM#614212 {Encephalopathy, acute, infection-induced, 4, susceptibility to}; OMIM#608836 CPT II deficiency, lethal neonatal; OMIM#255110 CPT II deficiency, myopathic, stress-induced;OMIM#614212 {Encephalopathy, acute, infection-induced, 4, susceptibility to}Created: 25 Mar 2019, 4:30 p.m.
Recommended testing for paeditaric cardiomyopathy by Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net). https://omim.org/clinicalSynopsis/600649 - shows that cardiomegaly and DCM are key features. Age of onset can be 1-40 years of age: Fanin Clin Genet 2012: 82: 232239.Created: 25 Mar 2019, 4:27 p.m.
Recommended testing for paeditaric cardiomyopathy by Bowron & Olpin (2012). MetBioNet Best Practice Guidelines: Investigation of an inherited metabolic cause of cardiomyopathy. (www.metbio.net). https://omim.org/clinicalSynopsis/600649 - shows that cardiomegaly and DCM are key features. Age of onset can be 1-40 years of age: Fanin Clin Genet 2012: 82: 232239.Created: 25 Mar 2019, 4:24 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: CPT2 were set to 27604308; 24816252
Source MetBioNet was added to CPT2. Added phenotypes Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); HCM, mixed; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; DCM for gene: CPT2
Source South West GLH was added to CPT2. Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Checked against the component panels and ready to promote to version 1.
gene: CPT2 was added gene: CPT2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 27604308; 24816252 Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)