CPT2

carnitine palmitoyltransferase 2
OMIM: 600650, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green CPT2 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags treatable
Green CPT2 in Mendeliome Version 1.3512	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags treatable
Green CPT2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110
Green CPT2 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1085 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 CPT II deficiency, myopathic, stress-induced MIM#255110 Tags treatable
Green CPT2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.565	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CPT2 in Additional findings_Adult Level 2: Screening Version 1.130	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes CPT II deficiency, myopathic, stress-induced, MIM# 255110
Green CPT2 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Tags treatable
Green CPT2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CPT II deficiency, lethal neonatal, 608836 (3)
Green CPT2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet South West GLH NHS GMS Phenotypes Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms) CPT II deficiency, lethal neonatal 608836 CPT deficiency, hepatic, type II 600649 HCM, mixed DCM Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Tags treatable
Green CPT2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Carnitine palmitoyltransferase 2 deficiency
Green CPT2 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.30 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes CPT II deficiency, infantile, MIM# 600649 Tags treatable
Green CPT2 in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes CPT deficiency, hepatic, type II 600649 CPT II deficiency, lethal neonatal 608836 Tags treatable
Green CPT2 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes CPT II deficiency, lethal neonatal, MIM# 608836
Green CPT2 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836 CPT II deficiency, myopathic, stress-induced MIM#255110
Green CPT2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags treatable metabolic
Green CPT2 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes CPT II deficiency, lethal neonatal 608836 CPT II deficiency, infantile 600649 CPT II deficiency, myopathic, stress-induced 255110
Green CPT2 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes CPT II deficiency, infantile MIM#600649 CPT II deficiency, lethal neonatal MIM#608836