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Inborn errors of metabolism

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Shows monoallelic inheritance for MIM:144250 and biallelic inheritance for MIM:238600. >3 unrelated cases for lipoprotein lipase deficiency, MIM:238600. Plus additional evidence from MIM:144250 cases.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Lipoprotein lipase deficiency, 238600
  • Combined hyperlipidemia, familial, 144250
  • Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)
OMIM
609708
Clinvar variants
Variants in LPL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to LPL. Source London North GLH was added to LPL.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LPL was added gene: LPL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LPL were set to 27604308 Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600; Combined hyperlipidemia, familial, 144250; Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias)