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Cardiomyopathies - including childhood onset

Gene: CPT2

Green List (high evidence)

CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 17 panels

3 reviews

Ivone Leong (Genomics England Curator)

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

Ellen McDonagh (Genomics England Curator)

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

Rebecca Whittington (South West GLH)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • South West GLH
  • MetBioNet
  • Expert Review Green
  • MetBioNet
  • South West GLH
  • Expert Review Green
Phenotypes
  • 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
OMIM
600650
Clinvar variants
Variants in CPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CPT2.

4 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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