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  2. Severe hypertriglyceridaemia
  3. GPD1
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Severe hypertriglyceridaemia

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Green after confirmation with the Genomics England clinical team. More than 5 families reported, and an expert Green review.
Created: 27 Jun 2018, 4:55 p.m.
Comment on publications: PMID: 22226083 A transversion in intron 3 in 10 individuals with transient infantile hypertriglyceridemia was reported, from 4 Israeli-Arab families. PMID: 24549054 a transversion and a missense (compound heterozygous) reported in a Caucasian female, one variant inherited from each patient.
Created: 29 Mar 2018, 2:41 p.m.
Created: 29 Mar 2018, 2:41 p.m.

Panel version: 1.6

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 2 variants reported
Created: 4 May 2017, 2:59 p.m.
Created: 4 May 2017, 2:59 p.m.

Panel version: 0.18

steve Humphries (UCL)

Green List (high evidence)

Rare
Created: 4 May 2017, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 4 May 2017, 9:01 a.m.

Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypertriglyceridemia, transient infantile, 614480
OMIM
138420
Clinvar variants
Variants in GPD1
Penetrance
Complete
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).

29 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GPD1 were set to 22226083; 24549054

4 May 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Review added and all genes checked

4 May 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Mar 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

GPD1 was created by oniblock

6 Mar 2017, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

GPD1 was added to Severe hypertriglyceridaemiapanel. Sources: Radboud University Medical Center, Nijmegen