Home > Gene Browser > ARX

ARX

Synonyms
CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
External resources
Summary
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy.

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
5
Likely pathogenic
0
VUS
7,153
Likely benign
693
Benign
561

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on ARX gene are displayed below. The following symptoms were found in patients with a variant in ARX. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40%
Abnormal cellular phenotype
20%
Abnormality of blood and blood forming tissues
20%
Abnormality of head or neck
20%
Abnormality of metabolism homeostasis
20%
Abnormality of prenatal development or birth
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of the immune system
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the respiratory system
20%
Growth abnormality
20%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary 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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