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ATRX

ATRX chromatin remodeler

HCNC Approved Symbol
ATRX (HGNC:886)
Genomic Coordinates
23:77,504,880 - 77,786,216 (Xq21.1)
Synonyms
XH2, XNP, RAD54, JMS, MRX52
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Alpha-thalassemia myelodysplasia syndrome, somatic
300448-
Alpha-thalassemia/impaired intellectual development syndrome
301040X-linked dominant
Intellectual disability-hypotonic facies syndrome, X-linked
309580X-linked recessive

Diagnosed Cases

25Patients

In total, 25 patients were diagnosed with a variant in the ATRX gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Global developmental delay
 10 (40.0%)
Microcephaly
 5 (20.0%)
Hypertelorism
 4 (16.0%)
Intellectual disability
 4 (16.0%)
Flat nasal bridge
 
3 (12.0%)