Genomics England
GMS Panels
Panels
Genes and Entities

GPD1

glycerol-3-phosphate dehydrogenase 1
OMIM: 138420
PanelMode of inheritanceDetails
2 panels
Green
in Familial chylomicronaemia syndrome (FCS)
R-numbers: R324
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertriglyceridemia, transient infantile OMIM:614480, transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertriglyceridemia, transient infantile, 614480