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NPHP4

Synonyms
POC10, SLSN4
External resources
Summary
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. 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
24
Likely pathogenic
0
VUS
6,303
Likely benign
1,329
Benign
1,033

Patient phenotypes

Proportions of phenotypes among 24 patients carring pathogenic or likely pathogenic variants on NPHP4 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Abnormality of the nervous system
25%
Abnormality of head or neck
20.8%
Abnormality of the cardiovascular system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormality of the digestive system
8.3%
Abnormality of the ear
8.3%
Growth abnormality
8.3%
Abnormality of limbs
4.2%
Abnormality of the endocrine system
4.2%
Abnormality of the immune system
4.2%
Abnormality of the integument
4.2%
Constitutional symptom
4.2%
Neoplasm
4.2%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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