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PRODH

Synonyms
HSPOX2, PIG6, POX, PRODH1, PRODH2, TP53I6
External resources
Summary
This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced 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
9
Likely pathogenic
6
VUS
26,646
Likely benign
5,345
Benign
2,735

Patient phenotypes

Proportions of phenotypes among 15 patients carrying pathogenic or likely pathogenic variants on PRODH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
53.3%
Abnormality of the nervous system
53.3%
Abnormality of head or neck
46.7%
Abnormality of the genitourinary system
26.7%
Abnormality of limbs
13.3%
Abnormality of the digestive system
13.3%
Abnormality of the eye
13.3%
Abnormality of prenatal development or birth
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Constitutional symptom
6.7%
Growth abnormality
6.7%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the ear
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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