Additional findings health related
Gene: APOBEnsemblGeneIds (GRCh38): ENSG00000084674
EnsemblGeneIds (GRCh37): ENSG00000084674
OMIM: 107730, Gene2Phenotype
APOB is in 9 panels
1 review
Sarah Leigh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Other
- Expert Review Green
- Phenotypes
-
- Familial hypercholesterolaemia
- Adult and child
- Transcripts
-
- ENST00000233242.5
- NM_000384.2
- OMIM
- 107730
- Clinvar variants
- Variants in APOB
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Familial hypercholesterolaemia
- Childhood onset dystonia, chorea or related movement disorder
- Additional findings health related - children
- Intestinal failure or congenital diarrhoea
- Additional findings health related
- Familial hypercholesterolaemia (GMS)
- Likely inborn error of metabolism
- Familial chylomicronaemia syndrome (FCS)
History Filter Activity
Set transcript
Catherine Snow (Genomics England)Transcript for gene APOB was changed from ENST00000233242.5 to ENST00000233242.5; NM_000384.2
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)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
Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: APOB were changed from NM_000384.2; Familial hypercholesterolaemia; Adult and child to ENST00000233242.5; Familial hypercholesterolaemia; Adult and child
Removed Source, Removed Source, Added New Source, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)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
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for APOB were set to NM_000384.2; Familial hypercholesterolaemia; Adult and child
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for APOB was changed from Other - please specify in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for APOB were set to Familial hypercholesterolaemia; Adult and child
Added New Source
Ellen McDonagh (Genomics England Curator)APOB was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)APOB was created by Ellen McDonagh