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  2. Likely inborn error of metabolism
  3. GPIHBP1
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Likely inborn error of metabolism

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.
Panel Version: 5.3
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Jan 2024, 1:32 p.m. | Last Modified: 8 Jan 2024, 1:32 p.m.
Panel Version: 4.105
GPIHBP1 copied from Familial chylomicronaemia syndrome (FCS) panel.
Maggie Williams (North Bristol NHS Trust)([email protected]): Variants in this GENE are reported as part of current diagnostic practice
Sources: Expert list
Created: 8 Jan 2024, 1:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412

Created: 8 Jan 2024, 1:31 p.m.

Panel version: 5.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Hyperlipoproteinemia, type 1D OMIM:615947
  • hyperlipoproteinemia, type 1D MONDO:0014412
OMIM
612757
Clinvar variants
Variants in GPIHBP1
Penetrance
None
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: GPIHBP1.

4 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to GPIHBP1. Source NHS GMS was added to GPIHBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gpihbp1 has been classified as Amber List (Moderate Evidence).

8 Jan 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: GPIHBP1 was added gene: GPIHBP1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list Q4_23_promote_green tags were added to gene: GPIHBP1. Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412 Review for gene: GPIHBP1 was set to GREEN