Genomics England
GMS Panels
Panels
Genes and Entities

CPT1A

carnitine palmitoyltransferase 1A
OMIM: 600528
PanelMode of inheritanceDetails
1 panel
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle), CPT deficiency, hepatic, type IA