BabyScreen+ newborn screening
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)

Well established gene-disease association. Multiple families reported.

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.

Childhood onset.

Treatment: diet low in shellfish sterols and plant sterols, ezetimibe, cholestryramine.

Clinical trial: ezetimibe
Created: 20 Sep 2022, 6:33 a.m. | Last Modified: 20 Sep 2022, 6:33 a.m.

Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sitosterolaemia 2, MIM# 618666

Created: 20 Sep 2022, 6:33 a.m.
Last Modified: 20 Sep 2022, 6:33 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category A gene

Phenotypes

Sitosterolaemia 2, MIM# 618666

Tags

treatable clinical trial metabolic

OMIM

605459

Clinvar variants

Variants in ABCG5

Penetrance

None

Panels with this gene