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NOBOX

Synonyms
OG-2, OG2, OG2X, POF5, TCAG_12042
External resources
Summary
This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.

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
13
Likely pathogenic
0
VUS
740
Likely benign
1,514
Benign
1,258

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on NOBOX gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.2%
Abnormality of the cardiovascular system
23.1%
Abnormality of the endocrine system
23.1%
Abnormality of the musculoskeletal system
23.1%
Abnormality of the ear
15.4%
Abnormality of the eye
15.4%
Growth abnormality
15.4%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of head or neck
7.7%
Abnormality of limbs
7.7%
Abnormality of the digestive system
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Neoplasm
7.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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