Genomics England
GMS Panels
Panels
Genes and Entities

CPT1C

carnitine palmitoyltransferase 1C
OMIM: 608846
PanelMode of inheritanceDetails
2 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 73, autosomal dominant, OMIM:616282
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 73, autosomal dominant, OMIM:616282