1. Panels
  2. Familial chylomicronaemia syndrome (FCS)
  3. GPD1
STRs in panel
Prev Next
Regions in panel
Prev Next

Familial chylomicronaemia syndrome (FCS)

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

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

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

Created: 4 Jul 2019, 4:03 p.m.
Last Modified: 4 Jul 2019, 4:03 p.m.
Panel version: 0.6

Details

Mode of Inheritance
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
OMIM
138420
Clinvar variants
Variants in GPD1
Penetrance
None
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GPD1 were changed from Hypertriglyceridemia, transient infantile 614480 to Hypertriglyceridemia, transient infantile OMIM:614480; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771

4 Jul 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: GPD1 was added gene: GPD1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile 614480