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BBS9

Synonyms
B1, C18, D1, PTHB1
External resources
Summary
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified.

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
11
Likely pathogenic
0
VUS
5,396
Likely benign
3,851
Benign
890

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on BBS9 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
44.4%
Abnormality of the cardiovascular system
33.3%
Abnormality of limbs
22.2%
Abnormality of head or neck
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the integument
11.1%
Abnormality of the musculoskeletal system
11.1%
Abnormality of the nervous system
11.1%
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 endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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