Genomics England
GMS Panels
Panels
Genes and Entities

CPT1C

carnitine palmitoyltransferase 1C
OMIM: 608846
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary spastic paraplegia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 73, autosomal dominant, OMIM:616282
Green
in Hereditary spastic paraplegia, childhood onset
R-numbers: R61
Signed-off version 9.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 73, autosomal dominant, OMIM:616282