1. Genes and Genomic Entities
  2. CPT1A

CPT1A

carnitine palmitoyltransferase 1A
OMIM: 600528, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CPT1A in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • CPT deficiency, hepatic, type IA 255120
Green CPT1A in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle)
  • CPT deficiency, hepatic, type IA
Green CPT1A in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle)
    • CPT deficiency, hepatic, type IA
    Red CPT1A in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • CPT deficiency, hepatic, type IA, 255120
    Red CPT1A in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • CPT deficiency, hepatic, type IA, 255120
    Red CPT1A in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH