Likely inborn error of metabolism
Gene: CETP

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

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Variants mostly associated with non-pathogenic phenotype
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyperalphalipoproteinemia 143470; [High density lipoprotein cholesterol level QTL 10] 143470

Publications

Created: 23 Feb 2017, 5:12 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

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

OMIM

118470

Clinvar variants

Variants in CETP

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CETP. Source London North GLH was added to CETP.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes