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Likely inborn error of metabolism

Gene: APOB

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.
Panel Version: 3.6
Created: 1 Feb 2023, 10:24 a.m.
Last Modified: 1 Feb 2023, 10:24 a.m.
Panel version: 3.6

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The mode of inheritance for APOB should be both monoallelic and biallelic, as Hypercholesterolemia, familial, 2 OMIM:144010 is monoallelic and Hypobetalipoproteinemia OMIM:615558 is biallelic.
Created: 25 Nov 2021, 5:40 p.m. | Last Modified: 25 Nov 2021, 5:40 p.m.
Panel Version: 2.202
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 5 variants associated with Hypobetalipoproteinemia 615558 without other variants in other genes and 2 variants associated with Hypercholesterolemia, familial, 2 144010 in numberous cases.
Created: 12 Aug 2019, 1:27 p.m. | Last Modified: 12 Aug 2019, 1:36 p.m.
Panel Version: 1.87

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 12 Aug 2019, 1:27 p.m.
Last Modified: 12 Aug 2019, 1:36 p.m.
Panel version: 2.202

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypercholesterolemia, familial, 2 OMIM:144010
  • hypercholesterolemia, autosomal dominant, type B MONDO:0007751
  • Hypobetalipoproteinemia OMIM:615558
  • familial hypobetalipoproteinemia 1 MONDO:0014252
OMIM
107730
Clinvar variants
Variants in APOB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_21_MOI was removed from gene: APOB.

1 Feb 2023, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Nov 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252

25 Nov 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: APOB.

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: apob has been classified as Green List (High Evidence).

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: APOB were changed from Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to APOB. Source London North GLH was added to APOB.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: APOB was added gene: APOB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APOB were set to 27604308 Phenotypes for gene: APOB were set to Familial hypobetalipoproteinaemia (Inherited hypolipidaemias); Familial hypercholesterolaemia