Acute rhabdomyolysis
Gene: CPT2
CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 15 panels
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.
Panel Version: 0.6
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Exercise intolerance and rhabdomyolysis, late onset
- CPT II deficiency, myopathic, stress-induced, OMIM:255110
- OMIM
- 600650
- Clinvar variants
- Variants in CPT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Mitochondrial disorders
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hyperammonaemia
- COVID-19 research
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Ductal plate malformation
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
19 Jan 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: CPT2 was added gene: CPT2 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 11994355; 23911907; 10873395; 15622536; 21913903; 24843804; 23184072 Phenotypes for gene: CPT2 were set to Exercise intolerance and rhabdomyolysis, late onset; CPT II deficiency, myopathic, stress-induced, OMIM:255110