Familial hypercholesterolaemia

Gene: GPIHBP1

Red List (low evidence)

GPIHBP1 (glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000277494
EnsemblGeneIds (GRCh37): ENSG00000182851
OMIM: 612757, Gene2Phenotype
GPIHBP1 is in 4 panels

1 review

Ellen Thomas (Genomics England)

Red List (low evidence)

Details

Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
OMIM
612757
Clinvar variants
Variants in GPIHBP1
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GPIHBP1 was added to Familial hypercholesterolaemiapanel. Sources: Emory Genetics Laboratory