CPT2 - Gene browser

CPT2

carnitine palmitoyltransferase 2

HCNC Approved Symbol: CPT2 (HGNC:2330)
Genomic Coordinates: 1:53,196,824 - 53,214,197 (1p32.3)
Synonyms: CPTASE, CPT1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the CPT2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Elevated plasma acylcarnitine levels: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Organic aciduria: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Hepatomegaly: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Abnormality of fatty-acid metabolism: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Edema: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)