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INVS

Synonyms
INV, NPH2, NPHP2
External resources
Summary
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
14
Likely pathogenic
15
VUS
13,302
Likely benign
234
Benign
511

Patient phenotypes

Proportions of phenotypes among 29 patients carrying pathogenic or likely pathogenic variants on INVS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
48.3%
Abnormality of the nervous system
48.3%
Abnormality of head or neck
27.6%
Abnormality of the musculoskeletal system
27.6%
Abnormality of limbs
17.2%
Abnormality of the cardiovascular system
17.2%
Growth abnormality
17.2%
Abnormality of the genitourinary system
13.8%
Abnormality of the digestive system
10.3%
Abnormality of prenatal development or birth
6.9%
Abnormality of the ear
6.9%
Abnormality of the immune system
6.9%
Abnormality of the integument
6.9%
Abnormality of blood and blood-forming tissues
3.4%
Abnormality of the endocrine system
3.4%
Abnormality of the respiratory system
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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