BBS2 - Gene browser

BBS2

Bardet-Biedl syndrome 2

HCNC Approved Symbol: BBS2 (HGNC:967)
Genomic Coordinates: 16:56,470,403 - 56,520,024 (16q13)
Synonyms: BBS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the BBS2 gene.

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

012
Patient count

Retinitis pigmentosa: 6 (50.0%)
Patient Count: 6 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (50.0%)
Obesity: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Poor vision: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Abnormality of colour vision: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Amblyopia: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)