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  3. GPD1
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Miscellaneous 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 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 17 cases reported
Sources: NHS GMS
Created: 4 Feb 2021, 10:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Feb 2021, 10:54 p.m.

Panel version: 0.176

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypertriglyceridemia, transient infantile MIM#614480
  • glycerol-3-phosphate dehydrogenase deficiency
OMIM
138420
Clinvar variants
Variants in GPD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

4 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GPD1 was added gene: GPD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPD1 were set to 32591995; 22226083; 33447932 Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency Review for gene: GPD1 was set to GREEN gene: GPD1 was marked as current diagnostic