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TBC1D32

Synonyms
BROMI, C6orf170, C6orf171
External resources
Summary
This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants.

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
30
Likely pathogenic
1
VUS
32,061
Likely benign
4,482
Benign
0

Patient Phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on TBC1D32 gene are displayed below. The following symptoms were found in patients with a variant in TBC1D32. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.5%
Abnormality of the eye
24.1%
Abnormality of head or neck
20.7%
Abnormality of the musculoskeletal system
20.7%
Abnormality of the digestive system
10.3%
Abnormality of the cardiovascular system
6.9%
Abnormality of the ear
6.9%
Growth abnormality
6.9%
Abnormal cellular phenotype
3.4%
Abnormality of limbs
3.4%
Abnormality of metabolism homeostasis
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the genitourinary system
3.4%
Abnormality of the respiratory system
3.4%
Abnormality of the voice
3.4%
Neoplasm
3.4%
Abnormality of blood and blood forming tissues
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 thoracic cavity
0%
Constitutional symptom
0%

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