CPT2

carnitine palmitoyltransferase 2
OMIM: 600650
PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DCM, Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle), Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms), HCM, mixed, Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia, CPT II deficiency, lethal neonatal 608836, CPT deficiency, hepatic, type II 600649
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT deficiency, hepatic, type II 600649, CPT II deficiency, lethal neonatal 608836, Myopathy due to CPT II deficiency 255110
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT deficiency, hepatic, type II 600649, CPT II deficiency, lethal neonatal 608836, Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT II deficiency, infantile, 600649, metabolic myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110