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RIOX1

Synonyms
C14orf169, JMJD9, MAPJD, NO66, ROX, URLC2, hsNO66
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
12
Likely pathogenic
0
VUS
1,867
Likely benign
113
Benign
0

Patient Phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on RIOX1 gene are displayed below. The following symptoms were found in patients with a variant in RIOX1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
50%
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
37.5%
Abnormality of the eye
37.5%
Growth abnormality
37.5%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of the digestive system
25%
Abnormality of the ear
12.5%
Abnormality of the endocrine system
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the respiratory system
12.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
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 integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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