PanelApp
  1. Genes and Genomic Entities
  2. CPT1A

CPT1A

carnitine palmitoyltransferase 1A
OMIM: 600528, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green CPT1A in Fatty Acid Oxidation Defects


Level 2: Metabolic disorders
Version 1.14

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • CPT deficiency, hepatic, type IA, MIM# 255120
    Tags
    • treatable

    Green CPT1A in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • CPT deficiency, hepatic, type IA, MIM# 255120
    Tags
    • treatable

    Green CPT1A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • CPT deficiency, hepatic, type IA, MIM# 255120

    Green CPT1A in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • CPT deficiency, hepatic, type IA MIM#255120
    Tags
    • treatable

    Green CPT1A in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • CPT deficiency, hepatic, type IA, 255120 (3)

    Green CPT1A in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Carnitine palmitoyltransferase I deficiency

    Green CPT1A in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • CPT deficiency, hepatic, type IA 255120
    Tags
    • treatable

    Green CPT1A in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • CPT deficiency, hepatic, type IA, 255120 (3)

    Green CPT1A in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Carnitine palmitoyltransferase I deficiency, MIM#255120
    Tags
    • treatable
    • metabolic

    Green CPT1A in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • CPT deficiency, hepatic, type IA, MIM#255120