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  3. ABCG8
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Sitosterolaemia

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 10 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #210250) and the OMIM record was last accessed on 29 December 2025.
Created: 29 Dec 2025, 1:08 p.m. | Last Modified: 29 Dec 2025, 1:08 p.m.
Panel Version: 1.3
ABCG8 has been added to the panel for R323 Sitosterolaemia with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 3:41 p.m. | Last Modified: 30 Jun 2023, 3:41 p.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 3:41 p.m.
Last Modified: 30 Jun 2023, 3:41 p.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Sitosterolemia 1, OMIM:210250
  • sitosterolemia 1, MONDO:0020747
OMIM
605460
Clinvar variants
Variants in ABCG8
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ABCG8 were changed from to Sitosterolemia 1, OMIM:210250; sitosterolemia 1, MONDO:0020747

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ABCG8 was added gene: ABCG8 was added to Sitosterolaemia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal