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DECR2

Synonyms
PDCR, SDR17C1
External resources

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
33
Likely pathogenic
36
VUS
7,119
Likely benign
167
Benign
0

Patient Phenotypes

Proportions of phenotypes among 67 patients carrying pathogenic or likely pathogenic variants on DECR2 gene are displayed below. The following symptoms were found in patients with a variant in DECR2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.3%
Abnormality of the musculoskeletal system
35.8%
Abnormality of the eye
28.4%
Abnormality of head or neck
23.9%
Growth abnormality
13.4%
Abnormality of limbs
11.9%
Abnormality of metabolism homeostasis
10.4%
Abnormality of the integument
10.4%
Abnormality of the genitourinary system
9%
Abnormality of the cardiovascular system
7.5%
Abnormality of the respiratory system
7.5%
Abnormality of blood and blood forming tissues
6%
Abnormality of the ear
6%
Abnormality of the digestive system
4.5%
Abnormality of the endocrine system
4.5%
Abnormality of the immune system
4.5%
Abnormality of prenatal development or birth
3%
Constitutional symptom
1.5%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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