Paediatric or syndromic cardiomyopathy

Gene: CPT2

Green List (high evidence)

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

Green List (high evidence)

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.asp

Created: 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

• 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

Green List (high evidence)

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