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PDZD7

Synonyms
DFNB57, PDZK7
External resources
Summary
This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. 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
30
Likely pathogenic
1
VUS
11,931
Likely benign
6,000
Benign
1,541

Patient phenotypes

Proportions of phenotypes among 27 patients carrying pathogenic or likely pathogenic variants on PDZD7 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
51.9%
Abnormality of the nervous system
29.6%
Abnormality of limbs
25.9%
Abnormality of head or neck
22.2%
Abnormality of the eye
22.2%
Abnormality of the genitourinary system
18.5%
Abnormality of the cardiovascular system
14.8%
Abnormality of the ear
14.8%
Abnormality of the immune system
11.1%
Abnormality of the digestive system
7.4%
Abnormality of the integument
7.4%
Abnormality of the respiratory system
7.4%
Growth abnormality
7.4%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the breast
3.7%
Abnormality of the endocrine system
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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