Lipoprotein lipase deficiency

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

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

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

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