Genomics England
GMS Panels
Panels
Genes and Entities

GPD1

glycerol-3-phosphate dehydrogenase 1
OMIM: 138420
PanelMode of inheritanceDetails
2 panels
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertriglyceridemia, transient infantile, 614480
Green
in Lipoprotein lipase deficiency
R-numbers: R324
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypertriglyceridemia, transient infantile OMIM:614480, transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771