Paediatric or syndromic cardiomyopathy
Gene: CPT2
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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
Phenotypes for gene: CPT2 were changed from DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); HCM, mixed; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836; CPT II deficiency, myopathic, stress-induced, OMIM:255110
Source NHS GMS was added to CPT2.
gene: CPT2 was added gene: CPT2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,South West GLH Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 24816252; 27604308 Phenotypes for gene: CPT2 were set to DCM; Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle); Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms); HCM, mixed; Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia; CPT II deficiency, lethal neonatal 608836; CPT deficiency, hepatic, type II 600649