1. Genes and Genomic Entities
  2. CPT1C

CPT1C

carnitine palmitoyltransferase 1C
OMIM: 608846, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green CPT1C in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 73, autosomal dominant, OMIM:616282
Green CPT1C in Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.11
Latest signed off version: v6.10 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 73, autosomal dominant, OMIM:616282