Dyslipidaemia
Gene: CETPEnsemblGeneIds (GRCh38): ENSG00000087237
EnsemblGeneIds (GRCh37): ENSG00000087237
OMIM: 118470, Gene2Phenotype
CETP is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Benign metabolic conditionCreated: 8 Feb 2021, 10:53 p.m. | Last Modified: 8 Feb 2021, 10:53 p.m.
Panel Version: 0.10
CETP deficiency causes mildly elevated HDL-cholesterol in heterozygotes and elevated HDL-cholesterol in biallelic carriers. Variants are mostly associated with a benign phenotype.
Sources: LiteratureCreated: 8 Feb 2021, 10:53 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Hyperalphalipoproteinemia MIM#143470
- Disorders of high density lipoprotein metabolism
- OMIM
- 118470
- Clinvar variants
- Variants in CETP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cetp has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: cetp has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CETP was added gene: CETP was added to Dyslipidaemia. Sources: Literature Mode of inheritance for gene: CETP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CETP were set to 12070157; 2586614; 27604308; 2215607; 2390095 Phenotypes for gene: CETP were set to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism Review for gene: CETP was set to GREEN