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Undiagnosed metabolic disorders

Gene: GPD1

Green List (high evidence)

GPD1 (glycerol-3-phosphate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000167588
EnsemblGeneIds (GRCh37): ENSG00000167588
OMIM: 138420, Gene2Phenotype
GPD1 is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was added to the panel after being promoted to Green on the Severe hypertriglyceridaemia (Version 1.8) gene panel; confirmation with the Genomics England clinical team. More than 5 families reported, and an expert Green review.
Created: 27 Jun 2018, 5:03 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
OMIM
138420
Clinvar variants
Variants in GPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gpd1 has been classified as Green List (High Evidence).

27 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GPD1 was added to Undiagnosed metabolic disorders panel. Sources: Literature

27 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GPD1 was created by Ellen McDonagh