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BBS1

Synonyms
BBS2L2
External resources
Summary
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.

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
2,691
Likely benign
563
Benign
47

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on BBS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of the musculoskeletal system
36.4%
Abnormality of head or neck
27.3%
Abnormality of the cardiovascular system
27.3%
Abnormality of the eye
27.3%
Abnormality of the genitourinary system
27.3%
Abnormality of the endocrine system
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the ear
9.1%
Neoplasm
9.1%
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 immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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