PanelApp (staging)
  1. Genes and Genomic Entities
  2. CPT1C

CPT1C

carnitine palmitoyltransferase 1C
OMIM: 608846, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CPT1C in Mendeliome


Version 1.2302

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 73, autosomal dominant MIM#616282
  • MONDO:0014568

Green CPT1C in Hereditary Spastic Paraplegia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.11

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 73, autosomal dominant, MIM#616282
    • MONDO:0014568