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Inborn errors of metabolism

Gene: LIPC

Amber List (moderate evidence)

LIPC (lipase C, hepatic type)
EnsemblGeneIds (GRCh38): ENSG00000166035
EnsemblGeneIds (GRCh37): ENSG00000166035
OMIM: 151670, Gene2Phenotype
LIPC is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated families with Hepatic lipase deficiency, 614025.
Created: 19 Aug 2019, 9:32 a.m. | Last Modified: 19 Aug 2019, 9:32 a.m.
Panel Version: 1.169

Rebecca Foulger (Genomics England curator)

gene: LIPC review by Rebecca Foulger

3 variants in 2 unrelated compound het cases of hepatic lipase deficiency reported between PMID:1671786 and 12777476. Plus PMID:23219720 & PMID:22464213 report 2 novel variants in LIPC in Thai subjects with HALP/hyperalphalipoproteinemia.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Hepatic lipase deficiency, 614025
  • [High density lipoprotein cholesterol level QTL 12] 612797
  • {Diabetes mellitus, noninsulin-dependent} 125853
OMIM
151670
Clinvar variants
Variants in LIPC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LIPC were set to 27604308

19 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: lipc has been classified as Amber List (Moderate Evidence).

15 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

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

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: LIPC was added gene: LIPC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPC were set to 27604308 Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797