Familial hypercholesterolaemia
Gene: APOBComment on mode of pathogenicity: The mechanism for disease involves defective apo B100 on LDL particles that fail to bind to LDLR.Created: 4 Dec 2024, 1:49 a.m. | Last Modified: 4 Dec 2024, 1:49 a.m.
Panel Version: 0.35
Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 -
https://search.clinicalgenome.org/CCID:004156
Created: 27 Nov 2024, 4:30 a.m. | Last Modified: 4 Dec 2024, 1:52 a.m.
Panel Version: 0.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypercholesterolemia, autosomal dominant, type B MONDO:0007751
Publications
Mode of pathogenicity for gene: APOB was changed from to Other
Phenotypes for gene: APOB were changed from to hypercholesterolemia, autosomal dominant, type B MONDO:0007751
Publications for gene: APOB were set to
Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag treatable tag was added to gene: APOB.
gene: APOB was added gene: APOB was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: APOB was set to Unknown