CPT2

carnitine palmitoyltransferase 2
OMIM: 600650
PanelMode of inheritanceDetails
6 panels
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
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
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
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)
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
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