Additional findings health related
Gene: APOB
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 bloodCreated: 30 Sep 2019, 3:56 p.m. | Last Modified: 30 Sep 2019, 3:56 p.m.
Panel Version: 0.55
Comment on phenotypes: Clinically relevant transcript NM_000384.2Created: 21 May 2018, 3:50 p.m.
Transcript for gene APOB was changed from ENST00000233242.5 to ENST00000233242.5; NM_000384.2
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
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
Phenotypes for gene: APOB were changed from NM_000384.2; Familial hypercholesterolaemia; Adult and child to ENST00000233242.5; Familial hypercholesterolaemia; Adult and child
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
Phenotypes for APOB were set to NM_000384.2; Familial hypercholesterolaemia; Adult and child
Mode of inheritance for APOB was changed from Other - please specify in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Phenotypes for APOB were set to Familial hypercholesterolaemia; Adult and child
APOB was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
APOB was created by Ellen McDonagh