Congenital myopathy
Gene: CPT2
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
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
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
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.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CPT2 were set to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Publications for CPT2 were set to 16602102
Mode of inheritance for CPT2 was changed to BIALLELIC, autosomal or pseudoautosomal
CPT2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen