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Severe hypertriglyceridaemia

Gene: LPL

Green List (high evidence)

LPL (lipoprotein lipase)
EnsemblGeneIds (GRCh38): ENSG00000175445
EnsemblGeneIds (GRCh37): ENSG00000175445
OMIM: 609708, Gene2Phenotype
LPL is in 9 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.

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

Ellen McDonagh (Genomics England Curator)

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

Phenotypes
Combined hyperlipidemia, familial

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