Rhabdomyolysis and metabolic muscle disorders
Gene: CPT2The 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
Phenotypes
exercise intolerance and rhabdomyolysis, late onset
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 myopathyCreated: 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} 614212Created: 2 Dec 2016, 10:30 a.m.
Tag Q1_22_MOI was removed from gene: CPT2.
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
Publications for gene: CPT2 were set to 25929793; 23911907; 10873395
Tag Q1_22_MOI tag was added to gene: CPT2.
Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for CPT2 were set to CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
This gene has been classified as Red List (Low Evidence).
Publications for CPT2 were set to 25929793; 23911907; 10873395
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for CPT2 were set to Myopathy due to CPT II deficiency 255110
Publications for CPT2 were set to 25929793
CPT2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
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
CPT2 was created by sleigh
CPT2 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN