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
-
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CPT2 were changed from CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110 to CPT II deficiency, infantile, OMIM:600649; CPT II deficiency, lethal neonatal, OMIM:608836
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for CPT2 were set to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Set publications
Helen Brittain (Genomics England Curator)Publications for CPT2 were set to 16602102
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for CPT2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
GEL ()CPT2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen