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| Dyslipidaemia v0.31 | APOC3 |
Elena Savva changed review comment from: PMID: 19074352 - p.19* is found at 5% frequency within the Old Amish subpopulation with lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol. Currently in ClinVar as 1x path, 2x likely benign (most recent) ClinVar: 2 missense variants, submissions >30 years old.; to: PMID: 19074352 - p.19* is found at 5% frequency within the Old Amish subpopulation with lower fasting and postprandial serum triglycerides, higher levels of HDL-cholesterol and lower levels of LDL-cholesterol. Currently in ClinVar as 1x path, 2x likely benign (most recent) ClinVar: 2 missense variants, submissions >30 years old. |
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| Dyslipidaemia v0.31 | APOC3 | Elena Savva Marked gene: APOC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.31 | APOC3 | Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.31 | APOC3 | Elena Savva Phenotypes for gene: APOC3 were changed from Apolipoprotein C-III deficiency to Apolipoprotein C-III deficiency MIM#614028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.30 | APOC3 | Elena Savva Publications for gene: APOC3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.30 | APOC3 | Elena Savva Classified gene: APOC3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.30 | APOC3 | Elena Savva Gene: apoc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.29 | APOC3 | Elena Savva reviewed gene: APOC3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 19074352; Phenotypes: PMID: 19074352; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dyslipidaemia v0.0 | APOC3 |
Bryony Thompson gene: APOC3 was added gene: APOC3 was added to Hyperlipidaemia_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: APOC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOC3 were set to Apolipoprotein C-III deficiency |
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