Genomics England

CPT2

carnitine palmitoyltransferase 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Exercise intolerance and rhabdomyolysis, late onset, CPT II deficiency, myopathic, stress-induced, OMIM:255110
Green in Cardiomyopathies - including childhood onset R-numbers: R135 Signed-off version 2.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, infantile, OMIM:600649, CPT II deficiency, lethal neonatal, OMIM:608836, CPT II deficiency, myopathic, stress-induced, OMIM:255110
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, infantile, OMIM:600649, CPT II deficiency, lethal neonatal, OMIM:608836
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, infantile, OMIM:600649, CPT II deficiency, lethal neonatal, OMIM:608836, CPT II deficiency, myopathic, stress-induced, OMIM:255110, Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Green in Limb girdle muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders R-numbers: R82 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, infantile, OMIM:600649, CPT II deficiency, lethal neonatal, OMIM:608836
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Neuromuscular disorders Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, myopathic, stress-induced, OMIM:255110, Exercise intolerance and rhabdomyolysis, late onset