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| Dyslipidaemia v0.19 | PNLIP |
Bryony Thompson gene: PNLIP was added gene: PNLIP was added to Dyslipidaemia. Sources: Literature Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308 Phenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism Review for gene: PNLIP was set to GREEN Added comment: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. Sources: Literature |
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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 v0.6 | 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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| Dyslipidaemia v0.0 | LPL |
Bryony Thompson gene: LPL was added gene: LPL was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial |
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| Dyslipidaemia v0.0 | LMF1 |
Bryony Thompson gene: LMF1 was added gene: LMF1 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMF1 were set to Combined lipase deficiency |
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| Dyslipidaemia v0.0 | LIPA |
Bryony Thompson gene: LIPA was added gene: LIPA was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease |
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