Home > Gene Browser > BBS5

BBS5

Synonyms
-
External resources
Summary
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
0
VUS
2,255
Likely benign
4,470
Benign
402

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on BBS5 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
37.5%
Abnormality of the genitourinary system
37.5%
Abnormality of the musculoskeletal system
37.5%
Abnormality of the nervous system
37.5%
Abnormality of the cardiovascular system
25%
Abnormality of the eye
25%
Abnormality of limbs
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the respiratory system
12.5%
Growth abnormality
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes