Intestinal failure or congenital diarrhoea
Gene: APOB

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

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

GeneReviews for APOB-Related Familial Hypobetalipoproteinemia (PMID: 33983694) note that patients with biallelic APOB-related familial hypobetalipoproteinemia may present with a range of clinical features including failure to thrive, with diarrhea and fat malabsorption with steatorrhea. Those with a heterozygous pathogenic variant in APOB are usually asymptomatic with mild liver dysfunction and hepatic steatosis.
Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.

Panel Version: 1.48

Created: 8 Mar 2022, 11:44 a.m.
Last Modified: 8 Mar 2022, 11:44 a.m.
Panel version: 1.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hypobetalipoproteinemia, OMIM:615558

OMIM

107730

Clinvar variants

Variants in APOB

Penetrance

None

Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: APOB was added gene: APOB was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: APOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, OMIM:615558

Intestinal failure or congenital diarrhoea Gene: APOB