Genomics England
GMS Panels
Panels
Genes and Entities

GPIHBP1

glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
OMIM: 612757
PanelMode of inheritanceDetails
2 panels
Green
in Familial chylomicronaemia syndrome (FCS)
R-numbers: R324
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlipoproteinemia, type 1D OMIM:615947, hyperlipoproteinemia, type 1D MONDO:0014412
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperlipoproteinemia, type 1D OMIM:615947, hyperlipoproteinemia, type 1D MONDO:0014412