Mitochondrial disease
Gene: CPT2EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 16 panels
2 reviews
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
Bryony Thompson (Royal Melbourne Hospital)
Carnitine palmitoyltransferase II (CPT2) is a rare autosomal recessive inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 7:20 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110
Publications
Details
- Mode of Inheritance
- 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
- 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.
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cpt2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cpt2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CPT2 was added gene: CPT2 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 25778941; 12673791; 30957255 Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836; CPT II deficiency, myopathic, stress-induced MIM#255110 Review for gene: CPT2 was set to GREEN