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| Additional findings health related v0.95 | APOB | Catherine Snow Transcript for gene APOB was changed from ENST00000233242.5 to ENST00000233242.5; NM_000384.2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.92 | APOB | Ellen McDonagh Mode of pathogenicity for gene: APOB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related v0.78 | APOB |
Ellen McDonagh Phenotypes for gene: APOB were changed from ENST00000233242.5; Familial hypercholesterolaemia; Adult and child to Familial hypercholesterolaemia; Adult and child Transcript for gene APOB was changed from None to ENST00000233242.5 |
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| Additional findings health related v0.58 | APOB | Ellen McDonagh Phenotypes for gene: APOB were changed from NM_000384.2; Familial hypercholesterolaemia; Adult and child to ENST00000233242.5; 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 v0.51 | APOB |
Ellen McDonagh Source Additional Findings was removed from APOB. Source ACMG was removed from APOB. Source Other was added to APOB. Mode of pathogenicity for gene APOB was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Additional findings health related | APOB | Ellen McDonagh classified APOB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings health related | APOB | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||