ARX Chromosome X
Aristaless related homeobox
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What This Gene Does
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. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
Xp21.3
Ensembl
ENSG00000004848
Associated Conditions (25)
Intellectual disability
X-linked
with or without seizures
ARX-related
Developmental and epileptic encephalopathy
1
Inborn genetic diseases
Hydranencephaly with abnormal genitalia
See cases
ARX-related disorder
X-linked lissencephaly with abnormal genitalia
West syndrome
Partington syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
epileptic encephalopathy
early infanitle
History of neurodevelopmental disorder
Generalized hypotonia
Abnormal synaptic transmission
X-linked spasticity-intellectual disability-epilepsy syndrome
+5 more conditions
Key Variants
RS1048593315
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with or without seizures
Health Risk
RS104894746
Conflicting classifications of pathogenicity
Hydranencephaly with abnormal genitalia, Developmental and epileptic encephalopathy, 1
Health Risk
RS1057520487
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Intellectual disability
Health Risk
RS1057522488
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with or without seizures
Health Risk
RS1064794482
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with or without seizures
Health Risk
RS1156871090
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Intellectual disability
Health Risk
RS1239494313
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Intellectual disability
Health Risk
RS1268774120
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with or without seizures
Health Risk
RS1287749285
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Intellectual disability
Health Risk
RS1310022652
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with or without seizures
Health Risk
RS1329228660
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Intellectual disability
Health Risk
RS1380487514
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, with or without seizures
Health Risk
All Variants (170)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS587783200 | Health Risk | Pathogenic | epileptic encephalopathy, early infanitle, 1 |
| RS587783202 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS797045289 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS797045290 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS797045291 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS797045292 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, Developmental and epileptic encephalopathy, 1 |
| RS797045298 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, Developmental and epileptic encephalopathy, 1 |
| RS797045303 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS869312662 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy |
| RS886043552 | Health Risk | Pathogenic | X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia |
| RS886043728 | Health Risk | Pathogenic | — |
| RS1064794843 | Health Risk | Pathogenic/Likely pathogenic | Corpus callosum agenesis-abnormal genitalia syndrome, Corpus callosum agenesis-abnormal genitalia syndrome |
| RS1328291159 | Health Risk | Pathogenic/Likely pathogenic | X-linked lissencephaly with abnormal genitalia, Intellectual disability, X-linked |
| RS1569394026 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked, with or without seizures |
| RS1569395541 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 1, Intellectual disability |
| RS2048708701 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 1, Intellectual disability |
| RS2147323593 | Health Risk | Pathogenic/Likely pathogenic | Arachnoid cyst, Corpus callosum, agenesis of |
| RS2147324381 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked, with or without seizures |
| RS398122854 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 1, Intellectual disability |
| RS794726959 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |