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Rhabdomyolysis and metabolic muscle disorders
Gene: CPT2

CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 15 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.

Panel Version: 2.5

Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS review. Although most cases are associated with biallelic variants, symptomatic heterozygous patients have also been described (PMID: 15622536; 21913903; 23184072; 24843804). Severity of symptoms tends to correlate with residual CPT enzyme activity but it is plausible that heterozygotes may still be tested under this panel. Both MOIs are listed in OMIM for this phenotype (MIM# 255110)
Created: 12 Jan 2022, 12:55 p.m. | Last Modified: 12 Jan 2022, 12:55 p.m.

Panel Version: 1.64

Created: 12 Jan 2022, 12:55 p.m.
Last Modified: 12 Jan 2022, 12:55 p.m.
Panel version: 2.5

Ros Quinlivan (UCLH)

Green List (high evidence)

Phenotypes
exercise intolerance and rhabdomyolysis, late onset

Created: 4 Jan 2017, 11:20 a.m.

Panel version: 0.81

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.

Created: 2 Dec 2016, 10:37 a.m.

Panel version: 0.62

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
UKGTN

Phenotypes

CPT II deficiency, myopathic, stress-induced, OMIM:255110
Exercise intolerance and rhabdomyolysis, late onset

OMIM

600650

Clinvar variants

Variants in CPT2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: CPT2.

1 Feb 2023, Gel status: 3

Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CPT2. Mode of inheritance for gene CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Jan 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CPT2 were set to 25929793; 23911907; 10873395

12 Jan 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: CPT2.

12 Jan 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

12 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CPT2 were changed from CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 to CPT II deficiency, myopathic, stress-induced, OMIM:255110; Exercise intolerance and rhabdomyolysis, late onset

4 Jan 2017, Gel status: 4