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NEBL

Synonyms
C10orf113, LASP2, LNEBL, bA165O3.1
External resources
Summary
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate 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
36
Likely pathogenic
21
VUS
17,188
Likely benign
6,909
Benign
0

Patient Phenotypes

Proportions of phenotypes among 54 patients carrying pathogenic or likely pathogenic variants on NEBL gene are displayed below. The following symptoms were found in patients with a variant in NEBL. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
29.6%
Abnormality of the nervous system
25.9%
Abnormality of the musculoskeletal system
22.2%
Abnormality of the cardiovascular system
16.7%
Abnormality of head or neck
13%
Abnormality of metabolism homeostasis
9.3%
Abnormality of the endocrine system
7.4%
Abnormality of the genitourinary system
7.4%
Abnormality of limbs
5.6%
Abnormality of the digestive system
5.6%
Abnormality of the ear
5.6%
Growth abnormality
5.6%
Abnormality of prenatal development or birth
3.7%
Abnormality of the integument
3.7%
Neoplasm
3.7%
Abnormality of the respiratory system
1.9%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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