Red cell disorders
Gene: ABCG5

ABCG5 (ATP binding cassette subfamily G member 5)
EnsemblGeneIds (GRCh38): ENSG00000138075
EnsemblGeneIds (GRCh37): ENSG00000138075
OMIM: 605459, Gene2Phenotype
ABCG5 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sitosterolemia is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol. Patients with this disorder have very high levels of plant sterols in the plasma and develop tendon and tuberous xanthomas, accelerated atherosclerosis, and premature coronary artery disease.

Haematological features include
- Haemolytic anemia
- Stomatocytosis
- Reticulocytosis
- Giant platelets
- Thrombocytopaenia
- Impaired platelet aggregation
Created: 4 Sep 2021, 5:55 a.m. | Last Modified: 4 Sep 2021, 5:55 a.m.

Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sitosterolaemia 2, MIM# 618666

Publications

Created: 4 Sep 2021, 5:55 a.m.
Last Modified: 4 Sep 2021, 5:55 a.m.
Panel version: 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Yorkshire and North East GLH
NHS GMS
Wessex and West Midlands GLH
North West GLH
London South GLH

Phenotypes

Sitosterolaemia 2, MIM# 618666

Tags

treatable clinical trial

OMIM

605459

Clinvar variants

Variants in ABCG5

Penetrance

None

Publications

Panels with this gene