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NEURL2

Synonyms
C20orf163, OZZ, OZZ-E3
External resources
Summary
This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene 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
4
Likely pathogenic
19
VUS
3,086
Likely benign
778
Benign
0

Patient Phenotypes

Proportions of phenotypes among 23 patients carrying pathogenic or likely pathogenic variants on NEURL2 gene are displayed below. The following symptoms were found in patients with a variant in NEURL2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.8%
Abnormality of the eye
30.4%
Abnormality of the cardiovascular system
21.7%
Abnormality of head or neck
17.4%
Abnormality of the musculoskeletal system
17.4%
Abnormality of the digestive system
13%
Abnormality of the immune system
13%
Abnormal cellular phenotype
8.7%
Abnormality of metabolism homeostasis
8.7%
Abnormality of the endocrine system
8.7%
Abnormality of the integument
8.7%
Abnormality of limbs
4.3%
Abnormality of the ear
4.3%
Growth abnormality
4.3%
Neoplasm
4.3%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
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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