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STRs in panel
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Inborn errors of metabolism

Gene: GPD1

Green List (high evidence)

GPD1 (glycerol-3-phosphate dehydrogenase 1)
EnsemblGeneIds (GRCh38): ENSG00000167588
EnsemblGeneIds (GRCh37): ENSG00000167588
OMIM: 138420, Gene2Phenotype
GPD1 is in 6 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
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
OMIM
138420
Clinvar variants
Variants in GPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GPD1 was added gene: GPD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPD1 were set to 24549054; 22226083 Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile, 614480