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  2. Familial hypercholesterolaemia
  3. LPL
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Familial hypercholesterolaemia

Gene: LPL

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

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Combined hyperlipidemia, familial, MIM# 144250; Lipoprotein lipase deficiency, MIM# 238600

Created: 9 May 2022, 12:40 a.m.
Last Modified: 9 May 2022, 12:40 a.m.
Panel version: Imported from Mendeliome panel version 0.13946

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Can present with mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B.
Created: 9 Jan 2020, 2:43 a.m. | Last Modified: 9 Jan 2020, 2:43 a.m.
Panel Version: 0.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Combined hyperlipidemia, familial, MIM# 144250

Created: 9 Jan 2020, 2:43 a.m.
Last Modified: 9 Jan 2020, 2:43 a.m.
Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined hyperlipidemia, familial, MIM# 144250
OMIM
609708
Clinvar variants
Variants in LPL
Penetrance
None
Panels with this gene

History Filter Activity

9 Jan 2020, 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).

9 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250

9 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LPL was added gene: LPL was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LPL was set to Unknown