CPT1C

carnitine palmitoyltransferase 1C
OMIM: 608846, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CPT1C in Hereditary spastic paraplegia - childhood onset


Version 2.84
Latest signed off version: v2.18 (8 Oct 2020)

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

Amber CPT1C in Hereditary spastic paraplegia - adult onset


Version 1.73
Latest signed off version: v1.27 (5 Aug 2021)

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

Amber CPT1C in Severe Paediatric Disorders


Version 1.84

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