Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: LPL

Green List (high evidence)

LPL (lipoprotein lipase)
EnsemblGeneIds (GRCh38): ENSG00000175445
EnsemblGeneIds (GRCh37): ENSG00000175445
OMIM: 609708, Gene2Phenotype
LPL is in 8 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The LPL gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant condition is AR Lipoprotein lipase deficiency MIM#238600.

Bi-allelic disease is severe and presents in infancy. Heterozygous parents may have symptoms, and although heterozygotes do not usually display the gross phenotypic features of lipoprotein lipase deficiency such as chylomicronemia, xanthomata, or episodes of abdominal pain, they have only half-normal LPL activity, which might not suffice to keep the plasma triglyceride concentration within normal limits when stress is placed on the plasma lipid transport system (OMIM).
Created: 14 Jan 2025, 3:28 a.m. | Last Modified: 14 Jan 2025, 3:28 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lipoprotein lipase deficiency MIM#238600

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Lipoprotein lipase deficiency MIM#238600
OMIM
609708
Clinvar variants
Variants in LPL
Penetrance
None
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency, 238600 (3) to Lipoprotein lipase deficiency MIM#238600

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Lipoprotein lipase deficiency, 238600 (3) for gene: LPL

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LPL was added gene: LPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)