1. Panels
  2. Newborns main panel
  3. GPIHBP1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36051701 - 1 case and review of 62 cases from literature PMID: 33706081 - 12 patients with same homozygous variant PMID: 19304573 - 1 case PMID: 27578123 - 2 families PMID: 25499947 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperlipoproteinemia, type 1D
OMIM
612757
Clinvar variants
Variants in GPIHBP1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperlipoproteinemia, type 1D for gene: GPIHBP1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperlipoproteinemia, type 1D for gene: GPIHBP1

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GPIHBP1. Added phenotypes Hyperlipoproteinemia, type 1D for gene: GPIHBP1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperlipoproteinemia, type 1D for gene: GPIHBP1

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GPIHBP1 was added gene: GPIHBP1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal