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  3. LIPC
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Dyslipidaemia

Gene: LIPC

Green List (high evidence)
LIPC (lipase C, hepatic type)
EnsemblGeneIds (GRCh38): ENSG00000166035
EnsemblGeneIds (GRCh37): ENSG00000166035
OMIM: 151670, Gene2Phenotype
LIPC is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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 GMS
Created: 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

Created: 5 Feb 2021, 9:13 a.m.
Last Modified: 5 Feb 2021, 9:17 a.m.
Panel version: 0.7

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hepatic lipase deficiency MIM#614025
  • Inherited mixed hyperlipidaemias
  • hyperalphalipoproteinemia
OMIM
151670
Clinvar variants
Variants in LIPC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lipc has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lipc has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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