Likely inborn error of metabolism - targeted testing not possible
Gene: LIPCComment 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
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
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
Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720
Publications for gene: LIPC were set to 27604308
Gene: lipc has been classified as Amber List (Moderate Evidence).
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
Source NHS GMS was added to LIPC. Source London North GLH was added to LIPC.
Sarah Leigh: Associated with relevant pheno
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