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  3. APOB
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Newborns additional phenotypes panel 1

Gene: APOB

Amber List (moderate evidence)
APOB (apolipoprotein B)
EnsemblGeneIds (GRCh38): ENSG00000084674
EnsemblGeneIds (GRCh37): ENSG00000084674
OMIM: 107730, Gene2Phenotype
APOB is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism for hypercholesterolemia involves mainly heterozygous missense variants resulting in defective apo B100 on LDL particles that fails to bind to LDLR.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:48 a.m.
Panel Version: 0.31
https://search.clinicalgenome.org/kb/genes/HGNC:603
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:48 a.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hypercholesterolaemia, familial, 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

History Filter Activity

13 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 to Hypercholesterolaemia, familial, 2

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to APOB. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypercholesterolemia, familial, 2 for gene: APOB

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

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

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: APOB was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None

5 Jul 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to APOB. 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 Added phenotypes Hypercholesterolemia, familial, 2 for gene: APOB Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: APOB was added gene: APOB was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOB were set to Hypercholesterolemia, familial, 2