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| Dyslipidaemia v0.7 | LIPC |
Bryony Thompson changed review comment from: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous 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; to: 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 |
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| Dyslipidaemia v0.7 | LIPC | Bryony Thompson edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 23219720, 26423094, 22464213, 22798447 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.7 | LIPC | Bryony Thompson Marked gene: LIPC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.7 | LIPC | Bryony Thompson Gene: lipc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.7 | LIPC | Bryony Thompson Classified gene: LIPC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.7 | LIPC | Bryony Thompson Gene: lipc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.6 | LIPC |
Bryony Thompson 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 Added comment: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous 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 |
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