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OBSL1

Synonyms
-
External resources
Summary
Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene.

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
63
Likely pathogenic
119
VUS
3,769
Likely benign
5,443
Benign
203

Patient phenotypes

Proportions of phenotypes among 180 patients carring pathogenic or likely pathogenic variants on OBSL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.9%
Abnormality of the musculoskeletal system
23.3%
Abnormality of the eye
20%
Abnormality of the cardiovascular system
15.6%
Abnormality of head or neck
14.4%
Abnormality of the ear
13.3%
Growth abnormality
12.8%
Abnormality of the genitourinary system
11.1%
Abnormality of limbs
7.2%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the immune system
5.6%
Abnormality of the digestive system
4.4%
Abnormality of the integument
4.4%
Abnormality of the endocrine system
3.9%
Abnormality of prenatal development or birth
3.3%
Neoplasm
2.8%
Abnormality of the respiratory system
1.1%
Abnormal cellular phenotype
0.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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