1. Panels
  2. Severe hypertriglyceridaemia
  3. LPL
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe hypertriglyceridaemia

Gene: LPL

Green List (high evidence)
LPL (lipoprotein lipase)
EnsemblGeneIds (GRCh38): ENSG00000175445
EnsemblGeneIds (GRCh37): ENSG00000175445
OMIM: 609708, Gene2Phenotype
LPL is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 4 May 2017, 2:44 p.m.
Comment on mode of inheritance: Combined hyperlipidemia, familial 144250 AD and
Lipoprotein lipase deficiency 238600 AR
Created: 4 May 2017, 2:40 p.m.
Created: 4 May 2017, 2:40 p.m.

Panel version: 0.14

steve Humphries (UCL)

Green List (high evidence)

Most common. Carriers may have modest to significant elevation of TG depending on co-inheritance of other TG raising SNPs
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

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Combined hyperlipidemia, familial

Created: 27 Sep 2016, 10:34 p.m.

Panel version: 0.1

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Combined hyperlipidemia, familial 144250
  • Lipoprotein lipase deficiency, 238600
OMIM
609708
Clinvar variants
Variants in LPL
Penetrance
Complete
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Review added and all genes checked

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LPL were set to Combined hyperlipidemia, familial 144250; Lipoprotein lipase deficiency, 238600

4 May 2017, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LPL was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Mar 2017, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

LPL was added to Severe hypertriglyceridaemiapanel. Source: UKGTN

6 Mar 2017, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

LPL was added to Severe hypertriglyceridaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services

6 Mar 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

LPL was added to Severe hypertriglyceridaemiapanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene LPL was set to BIALLELIC, autosomal or pseudoautosomal

27 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LPL was added to Severe hypertriglyceridaemiapanel. Sources: Eligibility statement prior genetic testing

27 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LPL was created by ellenmcdonagh