Rhabdomyolysis and Metabolic Myopathy

Gene: CPT2

Green List (high evidence)

CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 16 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.

Well established gene-disease association, multiple families reported.

Evidence for mono-allelic variants causing mild, adult-onset disease is limited (most of those with later onset have had bi-allelic variants).
Created: 22 Nov 2021, 2:09 a.m. | Last Modified: 22 Nov 2021, 2:09 a.m.
Panel Version: 0.9788

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31541997 - One child with exercise-induced weakness, mild muscle hypotonia and slightly elevated CK levels. Patient was chet for two missense variants.

PMID: 30149802 - One family (two children) with recurrent rhabdomyolysis associated with transient muscle weakness after prolonged exercise. Patients had elevated CK levels. Carrier parents were normal. Patients were chet for two missense variants, one variant (p.Ser113Leu) is common in gnomAD but 14x pathogenic in ClinVar, recurring pathogenic variant.

PMID: 11585077 - One child with acute muscular weakness, patient was homozygous for the recurring missense (p.Ser113Leu)
Sources: Expert list
Created: 22 Jun 2020, 3:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT II deficiency, myopathic, stress-induced 255110

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Carnitine palmitoyltransferase II (CPT2) is a rare autosomal recessive inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Created: 21 Mar 2020, 7:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
Tags
treatable
OMIM
600650
Clinvar variants
Variants in CPT2
Penetrance
None
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cpt2 has been classified as Green List (High Evidence).

26 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CPT2.

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CPT2 was added gene: CPT2 was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110