CETP

cholesteryl ester transfer protein
OMIM: 118470, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CETP in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Red CETP in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism)
  • Hyperalphalipoproteinemia 143470
  • [High density lipoprotein cholesterol level QTL 10] 143470
Red CETP in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • [High density lipoprotein cholesterol level QTL 10] 143470
    • Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism)
    • Hyperalphalipoproteinemia 143470