Home > Gene Browser > USH1C

USH1C

Synonyms
AIE-75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, ush1cpst
External resources
Summary
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found 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
58
Likely pathogenic
7
VUS
14,014
Likely benign
6,770
Benign
731

Patient phenotypes

Proportions of phenotypes among 64 patients carrying pathogenic or likely pathogenic variants on USH1C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.9%
Abnormality of the musculoskeletal system
37.5%
Abnormality of head or neck
32.8%
Abnormality of the eye
32.8%
Abnormality of the cardiovascular system
23.4%
Abnormality of the integument
18.8%
Abnormality of limbs
17.2%
Abnormality of the ear
17.2%
Abnormality of the genitourinary system
15.6%
Abnormality of the digestive system
12.5%
Growth abnormality
12.5%
Abnormality of the respiratory system
7.8%
Abnormality of prenatal development or birth
4.7%
Abnormality of blood and blood-forming tissues
3.1%
Abnormality of the immune system
3.1%
Abnormality of the breast
1.6%
Abnormality of the endocrine system
1.6%
Abnormality of the voice
1.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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