1. Genes and Genomic Entities
  2. CPT1C

CPT1C

carnitine palmitoyltransferase 1C
OMIM: 608846, Gene2Phenotype

3 panels

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


Version 4.43
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 3.21
Latest signed off version: v3.14 (31 Jul 2023)

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
Amber CPT1C in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Spastic paraplegia 73, autosomal dominant, 616282