Genomics England

CPT2

carnitine palmitoyltransferase 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Exercise intolerance and rhabdomyolysis, late onset, CPT II deficiency, myopathic, stress-induced, OMIM:255110
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, infantile, OMIM:600649, CPT II deficiency, lethal neonatal, OMIM:608836
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 5.6	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, Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle)
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.33	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, infantile, OMIM:600649, CPT II deficiency, lethal neonatal, OMIM:608836
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	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 Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 4.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes CPT II deficiency, myopathic, stress-induced, OMIM:255110, Exercise intolerance and rhabdomyolysis, late onset