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  3. ABCG8
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Familial hypercholesterolaemia

Gene: ABCG8

Green List (high evidence)
ABCG8 (ATP binding cassette subfamily G member 8)
EnsemblGeneIds (GRCh38): ENSG00000143921
EnsemblGeneIds (GRCh37): ENSG00000143921
OMIM: 605460, Gene2Phenotype
ABCG8 is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association to sitosterolemia
Created: 15 Mar 2022, 3:54 a.m. | Last Modified: 15 Mar 2022, 3:54 a.m.
Panel Version: 0.11388

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sitosterolemia 1 MIM#210250

Created: 15 Mar 2022, 3:54 a.m.
Last Modified: 15 Mar 2022, 3:54 a.m.
Panel version: Imported from Mendeliome panel version 0.11388

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Sitosterolemia MONDO:0008863
OMIM
605460
Clinvar variants
Variants in ABCG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ABCG8 were set to

4 Dec 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ABCG8 were changed from to Sitosterolemia MONDO:0008863

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCG8 was added gene: ABCG8 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCG8 was set to Unknown