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NEURL4

Synonyms
-
External resources
Summary
The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced 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
2,246
Likely pathogenic
22
VUS
9,234
Likely benign
2,417
Benign
39

Patient Phenotypes

Proportions of phenotypes among 1364 patients carrying pathogenic or likely pathogenic variants on NEURL4 gene are displayed below. The following symptoms were found in patients with a variant in NEURL4. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.1%
Abnormality of the musculoskeletal system
29.5%
Abnormality of the cardiovascular system
27.9%
Abnormality of the eye
22.1%
Abnormality of head or neck
21.2%
Abnormality of the ear
15%
Abnormality of limbs
13.3%
Growth abnormality
12.4%
Abnormality of the integument
11.1%
Abnormality of metabolism homeostasis
10.3%
Abnormality of the genitourinary system
9.7%
Abnormality of the digestive system
7.8%
Abnormality of the immune system
7.5%
Abnormality of the endocrine system
4.5%
Abnormality of the respiratory system
4.3%
Abnormality of blood and blood forming tissues
3.4%
Abnormality of prenatal development or birth
3%
Neoplasm
3%
Constitutional symptom
2.2%
Abnormal cellular phenotype
1.5%
Abnormality of the breast
0.5%
Abnormality of the voice
0.2%
Abnormality of the thoracic cavity
0.1%

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