GPD1

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green GPD1 in Severe hypertriglyceridaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.16

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 1.28

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Hypercholesterolemia

Green GPD1 in Lipoprotein lipase deficiency


Version 1.19
Latest signed off version: v1.3 (15 Oct 2020)

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 1.488

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480

Green GPD1 in Inborn errors of metabolism


Version 2.190
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypertriglyceridemia, transient infantile, 614480

    Red GPD1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.162
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green GPD1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hypertriglyceridemia, transient infantile, 614480