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Newborns main panel

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

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple phenotypes with same MOI included.

Additional Information: APOB related hypercholesterolaemia (LOF) and APOB related hypobetalipoproteinaemia (LOF) both included.
Created: 25 Sep 2024, 2:57 p.m. | Last Modified: 18 Nov 2025, 3:56 p.m.
Panel Version: 0.480
Created: 25 Sep 2024, 2:57 p.m.
Last Modified: 18 Nov 2025, 3:56 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:48 a.m.
Panel Version: 0.147
Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
are we not interested in AD Familial hypercholesterolemia-2? -> Added another row for AD and the FH phenotype
Created: 17 May 2023, 1:49 p.m. | Last Modified: 17 May 2023, 1:49 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:49 p.m.
Last Modified: 7 Jul 2023, 9:48 a.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: APOB.

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: APOB were changed from Hypobetalipoproteinemia to Hypobetalipoproteinaemia

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypobetalipoproteinemia for gene: APOB

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

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

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to APOB. Mode of inheritance for gene APOB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypobetalipoproteinemia for gene: APOB Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to APOB. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypobetalipoproteinemia for gene: APOB

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: APOB was added gene: APOB was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: APOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown