Rhabdomyolysis and metabolic muscle disorders

Gene: CPT2

Green List (high evidence)

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

2 reviews

Ros Quinlivan (UCLH)

Green List (high evidence)

Phenotypes
exercise intolerance and rhabdomyolysis, late onset

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 10 variants reported to be associated with stress-induced myopathy
Created: 4 Jan 2017, 10:47 a.m.
Comment on phenotypes: Also associated with CPT deficiency, hepatic, type II 600649, CPT II deficiency, lethal neonatal 608836, {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212
Created: 2 Dec 2016, 10:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
OMIM
600650
Clinvar variants
Variants in CPT2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110

5 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Dec 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CPT2 were set to 25929793; 23911907; 10873395

2 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CPT2 were set to Myopathy due to CPT II deficiency 255110

1 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CPT2 were set to 25929793

24 Nov 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

CPT2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Nov 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene CPT2 was set to BIALLELIC, autosomal or pseudoautosomal

24 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836; Myopathy due to CPT II deficiency 255110

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CPT2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CPT2 was created by sleigh