Renal Tubulopathies and related disorders

Gene: CPT2

Green List (high evidence)

CPT2 (carnitine palmitoyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000157184
EnsemblGeneIds (GRCh37): ENSG00000157184
OMIM: 600650, Gene2Phenotype
CPT2 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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
  • 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
OMIM
600650
Clinvar variants
Variants in CPT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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 Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 11477613; 12410208; 8358442; 8651281 Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110