Home > Gene Browser > INVS

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

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
12
Likely pathogenic
7
VUS
5,758
Likely benign
122
Benign
286

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on INVS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
50%
Abnormality of the nervous system
50%
Abnormality of head or neck
33.3%
Abnormality of the musculoskeletal system
27.8%
Abnormality of limbs
22.2%
Abnormality of the genitourinary system
16.7%
Abnormality of the immune system
16.7%
Growth abnormality
16.7%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the integument
11.1%
Abnormality of prenatal development or birth
5.6%
Abnormality of the breast
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes