Familial hypercholesterolaemia

Gene: CETP

Red List (low evidence)

CETP (cholesteryl ester transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000087237
EnsemblGeneIds (GRCh37): ENSG00000087237
OMIM: 118470, Gene2Phenotype
CETP is in 3 panels

2 reviews

Ellen Thomas (Genomics England)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

On the Inherited Cardiac Condition Genes panel for Familial Hypercholesterolaemia reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.​1007/​s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 7.
Created: 19 Feb 2016, 2:47 p.m.


  • Emory Genetics Laboratory
  • Hypercholesterolemia
Clinvar variants
Variants in CETP
Panels with this gene

History Filter Activity

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CETP was added to Familial hypercholesterolaemiapanel. Sources: Emory Genetics Laboratory