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| Additional findings health related v0.99 | LDLR | Catherine Snow Transcript for gene LDLR was changed from ENST00000558518.5 to ENST00000558518.5; NM_000527.4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.81 | LDLR |
Ellen McDonagh Source Additional Findings was removed from LDLR. Source ACMG was removed from LDLR. Source Expert list was added to LDLR. Phenotypes for gene: LDLR were changed from ENST00000558518.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child Transcript for gene LDLR was changed from None to ENST00000558518.5 |
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| Additional findings health related v0.63 | LDLR | Ellen McDonagh Phenotypes for gene: LDLR were changed from NM_000527.4; Familial hypercholesterolaemia; Adult and child to ENST00000558518.5; Familial hypercholesterolaemia; Adult and child | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.55 | APOB |
Sarah Leigh edited their review of gene: APOB: Added comment: Familial Hypercholesterolemia 2, Familial ligand-defective apolipoprotein B-100 (FDB) • Monoallelic • Mostly missense variants • Terminating variants unlikely to be involved • Prevents the LDL particle from binding with cell surface receptors (LDLR) • Increased levels of cholesterol in blood; Changed rating: GREEN |
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| Additional findings health related | LDLR | Ellen McDonagh classified LDLR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related | LDLR | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||