Congenital muscular dystrophy and congenital myopathy
Gene: CPT2EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 15 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
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
Helen Brittain (Genomics England Curator)
Comment when marking as ready: The phenotype is not a good fit for congenital myopathy. Although some cases have myopathy, it is secondary to the profound metabolic disturbance caused by carnitine deficiency. Patients are more likely to present with hypoglycaemia / seizures / encephalopathy / hepatic dysfunction rather than primary muscle pathology in the form of myopathy. The adult onset form is related to stress (exercise / fasting) induced muscle symptoms such as pain / stiffness. Therefore not considered appropriate for a congenital myopathy panel.Created: 3 Feb 2017, 11:51 a.m.
The phenotype is not a good fit for congenital myopathy. Although some cases have myopathy, it is secondary to the profound metabolic disturbance caused by carnitine deficiency. Patients are more likely to present with hypoglycaemia / seizures / encephalopathy / hepatic dysfunction rather than primary muscle pathology in the form of myopathy. The adult onset form is related to stress (exercise / fasting) induced muscle symptoms such as pain / stiffness. Therefore not considered appropriate for a congenital myopathy panel.Created: 30 Jan 2017, 3:18 p.m.
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
- PMID 16602102
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- CPT II deficiency, infantile, OMIM:600649
- CPT II deficiency, lethal neonatal, OMIM:608836
- OMIM
- 600650
- Clinvar variants
- Variants in CPT2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Arthrogryposis
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Ductal plate malformation
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Fetal anomalies
- Acute rhabdomyolysis
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: CPT2 was added gene: CPT2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 16602102 Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836 Penetrance for gene: CPT2 were set to Complete