1. Panels
  2. Familial hypercholesterolaemia
  3. APOB
STRs in panel
Prev Next
Regions in panel
Prev Next

Familial hypercholesterolaemia

Gene: APOB

Green List (high evidence)
APOB (apolipoprotein B)
EnsemblGeneIds (GRCh38): ENSG00000084674
EnsemblGeneIds (GRCh37): ENSG00000084674
OMIM: 107730, Gene2Phenotype
APOB is in 8 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment 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
Created: 4 Dec 2024, 1:49 a.m.
Last Modified: 4 Dec 2024, 1:49 a.m.
Panel version: 0.35

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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

Created: 27 Nov 2024, 4:30 a.m.
Last Modified: 4 Dec 2024, 1:52 a.m.
Panel version: 0.27

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • hypercholesterolemia, autosomal dominant, type B MONDO:0007751
Tags
treatable
OMIM
107730
Clinvar variants
Variants in APOB
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Dec 2024, Gel status: 3

Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

Mode of pathogenicity for gene: APOB was changed from to Other

4 Dec 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: APOB were changed from to hypercholesterolemia, autosomal dominant, type B MONDO:0007751

4 Dec 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: APOB were set to

4 Dec 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

21 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: APOB.

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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