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Sitosterolaemia

Gene: ABCG5

Green List (high evidence)
ABCG5 (ATP binding cassette subfamily G member 5)
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 11 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 #618666) and the OMIM record was last accessed on 29 December 2025.
Created: 29 Dec 2025, 1:06 p.m. | Last Modified: 29 Dec 2025, 1:06 p.m.
Panel Version: 1.2
ABCG5 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

History Filter Activity

29 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, OMIM:618666; sitosterolemia 2, MONDO:0020748

30 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ABCG5 was added gene: ABCG5 was added to Sitosterolaemia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal