GPD1

glycerol-3-phosphate dehydrogenase 1
OMIM: 138420, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green GPD1 in Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
Red GPD1 in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.31

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia
Green GPD1 in Familial Chylomicronaemia Syndrome


Level 2: Lipids
Version 3.7
Latest signed off version: v3.6 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Hypertriglyceridemia, transient infantile OMIM:614480
  • transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Green GPD1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
Green GPD1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypertriglyceridemia, transient infantile, 614480
    Red GPD1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH