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PRX

Synonyms
CMT4F
External resources
Summary
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy.

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
8
Likely pathogenic
12
VUS
3,270
Likely benign
2,114
Benign
339

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on PRX gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55%
Abnormality of head or neck
30%
Abnormality of the musculoskeletal system
25%
Abnormality of the integument
20%
Abnormality of the cardiovascular system
15%
Abnormality of the digestive system
15%
Abnormality of the eye
15%
Growth abnormality
15%
Abnormality of blood and blood-forming tissues
10%
Abnormality of limbs
10%
Abnormality of the endocrine system
10%
Abnormality of the genitourinary system
10%
Abnormality of the ear
5%
Abnormality of the voice
5%
Constitutional symptom
5%
Neoplasm
5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%

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