1. Panels
  2. Familial chylomicronaemia syndrome (FCS)
  3. LIPI
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Familial chylomicronaemia syndrome (FCS)

Gene: LIPI

Red List (low evidence)
LIPI (lipase I)
EnsemblGeneIds (GRCh38): ENSG00000188992
EnsemblGeneIds (GRCh37): ENSG00000188992
OMIM: 609252, Gene2Phenotype
LIPI is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: The gene / disease association has been recently been reclassified on OMIM as the variant (rs11909217) is present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (Personal communication to OMIM by Ada Hamosh June 25, 2019).
Created: 4 Jul 2019, 4:11 p.m. | Last Modified: 9 Jul 2019, 8:17 a.m.
Panel Version: 0.8
Created: 4 Jul 2019, 4:11 p.m.
Last Modified: 9 Jul 2019, 8:17 a.m.
Panel version: 0.8

Maggie Williams (North Bristol NHS Trust)

Red List (low 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • South West GLH
  • NHS GMS
Phenotypes
  • hypertriglyceridemia (disease) MONDO:0005347
OMIM
609252
Clinvar variants
Variants in LIPI
Penetrance
None
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LIPI were changed from hypertriglyceridemia to hypertriglyceridemia (disease) MONDO:0005347

4 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lipi has been classified as Red List (Low Evidence).

4 Jul 2019, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lipi has been classified as Red List (Low Evidence).

4 Jul 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: LIPI was added gene: LIPI was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LIPI were set to hypertriglyceridemia