ABCG8 - Gene browser | 3billion

ABCG8

ABCG8

ATP binding cassette subfamily G member 8

HCNC Approved Symbol: ABCG8 (HGNC:13887)
Genomic Coordinates: 2:43,838,971 - 43,882,988 (2p21)
Synonyms: GBD4
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the ABCG8 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

08
Patient count

Delayed milestones: 6 (75.0%)
Patient Count: 6 (75.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (75.0%)
Xanthomatosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)

Last updated: 2024-06-30

ABCG8 - Gene browser | 3billion