Dyslipidaemia
Gene: LIPC
PMID: 1671786, 12777476, 1883393, 22798447 - 7 cases from 3 unrelated families with hepatic lipase deficiency and biallelic variants.
PMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet
PMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays
Sources: NHS GMSCreated: 5 Feb 2021, 9:13 a.m. | Last Modified: 5 Feb 2021, 9:17 a.m.
Panel Version: 0.7
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hepatic lipase deficiency MIM#614025; Inherited mixed hyperlipidaemias; hyperalphalipoproteinemia
Publications
Gene: lipc has been classified as Green List (High Evidence).
Gene: lipc has been classified as Green List (High Evidence).
gene: LIPC was added gene: LIPC was added to Hyperlipidaemia. Sources: NHS GMS Mode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LIPC were set to 1671786; 12777476; 1883393; 23219720; 26423094; 22464213 Phenotypes for gene: LIPC were set to Hepatic lipase deficiency MIM#614025; Inherited mixed hyperlipidaemias; hyperalphalipoproteinemia Review for gene: LIPC was set to GREEN