Hyperammonaemia
Gene: CPT2EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. There is a spectrum of severity.
Well established gene-disease association, multiple families reported.
Evidence for mono-allelic variants causing mild, adult-onset disease is limited (most of those with later onset have had bi-allelic variants).Created: 22 Nov 2021, 2:09 a.m. | Last Modified: 22 Nov 2021, 2:09 a.m.
Panel Version: 0.9788
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Publications
Details
- Mode of Inheritance
- 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
- OMIM
- 600650
- Clinvar variants
- Variants in CPT2
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cpt2 has been classified as Green List (High Evidence).
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 Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CPT2 was added gene: CPT2 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836