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 8.30
Latest signed off version: v8.0 (30 Apr 2025)

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 6.7
Latest signed off version: v6.0 (30 Apr 2025)

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