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  2. Familial chylomicronaemia syndrome (FCS)
  3. GPIHBP1
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Familial chylomicronaemia syndrome (FCS)

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

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

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

Created: 4 Jul 2019, 4:03 p.m.
Last Modified: 4 Jul 2019, 4:03 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
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 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GPIHBP1 were changed from Hyperlipoproteinemia, type 1D 615947 to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412

4 Jul 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: GPIHBP1 was added gene: GPIHBP1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D 615947