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  2. Congenital Diarrhoea
  3. APOB
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Congenital Diarrhoea

Gene: APOB

Green List (high evidence)
APOB (apolipoprotein B)
EnsemblGeneIds (GRCh38): ENSG00000084674
EnsemblGeneIds (GRCh37): ENSG00000084674
OMIM: 107730, Gene2Phenotype
APOB is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are characterised by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common.

Well established gene-disease association.
Created: 4 Jan 2021, 3:16 a.m. | Last Modified: 4 Jan 2021, 3:16 a.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypobetalipoproteinemia, MIM# 615558

Created: 4 Jan 2021, 3:16 a.m.
Last Modified: 4 Jan 2021, 3:16 a.m.
Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypobetalipoproteinemia, MIM# 615558
OMIM
107730
Clinvar variants
Variants in APOB
Penetrance
None
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: APOB were changed from to Hypobetalipoproteinemia, MIM# 615558

4 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: APOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: APOB was added gene: APOB was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: APOB was set to Unknown