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  2. Familial chylomicronaemia syndrome (FCS)
  3. LPL
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Familial chylomicronaemia syndrome (FCS)

Gene: LPL

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

1 review

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2019, 4:03 p.m.
Last Modified: 4 Jul 2019, 4:03 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
  • NHS GMS
Phenotypes
  • Lipoprotein lipase deficiency OMIM:238600
  • familial lipoprotein lipase deficiency MONDO:0009387
  • Combined hyperlipidemia, familial OMIM:144250
  • hyperlipidemia, familial combined, LPL related MONDO:0007759
OMIM
609708
Clinvar variants
Variants in LPL
Penetrance
None
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250 to Lipoprotein lipase deficiency OMIM:238600; familial lipoprotein lipase deficiency MONDO:0009387; Combined hyperlipidemia, familial OMIM:144250; hyperlipidemia, familial combined, LPL related MONDO:0007759

4 Jul 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: LPL was added gene: LPL was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250