Newborns additional phenotypes panel 2
Gene: APOBEnsemblGeneIds (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, 2:58 p.m. | Last Modified: 18 Nov 2025, 3:56 p.m.
Panel Version: 0.27
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 12 Oct 2023, 4:47 p.m. | Last Modified: 12 Oct 2023, 4:47 p.m.
Panel Version: 0.20
https://search.clinicalgenome.org/kb/genes/HGNC:603Created: 12 Oct 2023, 4:47 p.m. | Last Modified: 12 Oct 2023, 4:47 p.m.
Panel Version: 0.20
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypercholesterolaemia, familial, 2 autosomal recessive
- Tags
- OMIM
- 107730
- Clinvar variants
- Variants in APOB
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Familial hypercholesterolaemia
- Additional findings health related - children
- Undiagnosed metabolic disorders
- Intestinal failure or congenital diarrhoea
- Additional findings health related
- Familial hypercholesterolaemia (GMS)
- Childhood onset dystonia, chorea or related movement disorder
- Familial chylomicronaemia syndrome (FCS)
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: APOB.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 autosomal recessive to Hypercholesterolaemia, familial, 2 autosomal recessive
Removed Source
Mafalda Gomes (Genomics England Curator)Source Expert Review was removed from APOB.
Entity classified by Genomics England curator
Mafalda Gomes (Genomics England Curator)Gene: apob has been classified as Green List (High Evidence).
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 2. Sources: Expert Review Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOB were set to Hypercholesterolemia, familial, 2 autosomal recessive Review for gene: APOB was set to GREEN