Additional findings health related

Gene: APOB

Green List (high evidence)

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 blood
Created: 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_000384.2
Created: 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

History Filter Activity

27 Jan 2020, Gel status: 3

Set transcript

Catherine Snow (Genomics England)

Transcript for gene APOB was changed from ENST00000233242.5 to ENST00000233242.5; NM_000384.2

9 Jan 2020, Gel status: 3

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

19 Nov 2019, Gel status: 3

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

10 Oct 2019, Gel status: 3

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

30 Sep 2019, Gel status: 3

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

21 May 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for APOB were set to NM_000384.2; Familial hypercholesterolaemia; Adult and child

3 Apr 2018, Gel status: 3

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

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for APOB were set to Familial hypercholesterolaemia; Adult and child

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

APOB was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

APOB was created by Ellen McDonagh