Cardiomyopathy_Paediatric
Gene: CPT2EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 16 panels
0 reviews
Details
- Mode of Inheritance
- 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
- OMIM
- 600650
- Clinvar variants
- Variants in CPT2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Liver Failure_Paediatric
- BabyScreen+ newborn screening
- Mitochondrial disease
- Genetic Epilepsy
- Fatty Acid Oxidation Defects
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Renal Tubulopathies and related disorders
- Prepair 500+
- Callosome
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: CPT2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CPT2 was added gene: CPT2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,MetBioNet,Expert Review Green Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 24816252; 27604308 Phenotypes for gene: CPT2 were set to 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)