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  2. Familial chylomicronaemia syndrome (FCS)
  3. APOB
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Familial chylomicronaemia syndrome (FCS)

Gene: APOB

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

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.
Created: 14 Mar 2022, 2:10 p.m. | Last Modified: 14 Mar 2022, 2:10 p.m.
Panel Version: 1.21
The phenotypes Hypercholesterolemia, familial, 2 OMIM:144010 and Hypobetalipoproteinemia OMIM:615558 are not appropriate for the Lipoprotein lipase deficiency panel.
Created: 25 Nov 2021, 5:56 p.m. | Last Modified: 25 Nov 2021, 5:56 p.m.
Panel Version: 1.19
Created: 25 Nov 2021, 5:56 p.m.
Last Modified: 25 Nov 2021, 5:56 p.m.
Panel version: 1.21

Julie Evans (South West Genomic Laboratory Hub)

Hi, could we remove APOB from the lipoprotein lipase deficiency panel or change it to a red gene? We have stopped including this in our analysis as there isn't sufficient evidence for an association with LPL deficiency/familial chylomicronaemia syndrome.
Created: 2 Mar 2021, 9:09 a.m. | Last Modified: 2 Mar 2021, 9:09 a.m.
Panel Version: 1.4
Created: 2 Mar 2021, 9:09 a.m.
Last Modified: 2 Mar 2021, 9:09 a.m.
Panel version: 1.4

Maggie Williams (North Bristol NHS Trust)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Jul 2019, 4:03 p.m.
Last Modified: 4 Jul 2019, 4:03 p.m.
Panel version: 0.6

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • South West 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
Panels with this gene

History Filter Activity

14 Mar 2022, Gel status: 1

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_NHS_review was removed from gene: APOB. Tag Q3_21_expert_review was removed from gene: APOB.

14 Mar 2022, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

4 Oct 2021, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: APOB. Tag Q3_21_expert_review tag was added to gene: APOB.

2 Aug 2021, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_NHS_review was removed from gene: APOB.

2 Aug 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: APOB.

4 Mar 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

4 Jul 2019, Gel status: 3

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

Sarah Leigh (Genomics England Curator)

gene: APOB was added gene: APOB was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOB were set to Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558