BBS5 - Gene browser | 3billion

BBS5

BBS5

Bardet-Biedl syndrome 5

HCNC Approved Symbol: BBS5 (HGNC:970)
Genomic Coordinates: 2:169,479,494 - 169,506,655 (2q31.1)
Synonyms: DKFZp762I194
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the BBS5 gene.

Frequently observed phenotypes(Top 5 only)

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

05
Patient count

Retinal dystrophy: 2 (40.0%)
Patient Count: 2 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (40.0%)
Retinitis pigmentosa: 1 (20.0%)
Patient Count: 1 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (20.0%)

Last updated: 2024-06-30

BBS5 - Gene browser | 3billion