Home > Gene Browser > IRX3

IRX3

Synonyms
IRX-1, IRXB1
External resources
Summary
IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998

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
32
Likely pathogenic
88
VUS
888
Likely benign
12
Benign
0

Patient phenotypes

Proportions of phenotypes among 104 patients carring pathogenic or likely pathogenic variants on IRX3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
41.3%
Abnormality of the nervous system
39.4%
Abnormality of the musculoskeletal system
27.9%
Abnormality of head or neck
22.1%
Growth abnormality
20.2%
Abnormality of the integument
11.5%
Abnormality of limbs
9.6%
Abnormality of the cardiovascular system
9.6%
Abnormality of the ear
9.6%
Abnormality of the immune system
5.8%
Abnormality of the genitourinary system
4.8%
Abnormality of the digestive system
3.8%
Abnormality of blood and blood-forming tissues
2.9%
Abnormality of the respiratory system
2.9%
Neoplasm
2.9%
Abnormality of the breast
1.9%
Abnormality of the endocrine system
1.9%
Abnormality of the voice
1%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes