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  3. GPIHBP1
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Dyslipidaemia

Gene: GPIHBP1

Green List (high 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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established cause of familial chylomicronemia (see OMIM). Greater than 3 families reported and a supporting mouse model.
Sources: Expert list
Created: 22 Jan 2021, 2:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2021, 2:11 a.m.

Panel version: Imported from Mendeliome panel version 0.6105

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hyperlipoproteinemia, type ID
OMIM
612757
Clinvar variants
Variants in GPIHBP1
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GPIHBP1 was added gene: GPIHBP1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID