Previous symbols: RAD54, JMS, MRX52. Aliases: XH2, XNP.
ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Angiosarcoma | unknown somatic | |
| ATR-X-Related Syndrome | causative germline |
mechanism: ATRX Chromatin-Remodeling Dysfunction; ATRX-DAXX Heterochromatin Remodeling Impairment; Oligodendrocyte Differentiation and Myelination Impairment; Sertoli Cell Survival and Androgen-Signaling Impairment; Tandem-Repeat-Associated Gene Dysregulation
subtype: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome; Intellectual Disability-Hypotonic Facies Syndrome, X-Linked 1
|
| Kidney Sarcoma | somatic driver |
scoped to subtype: Renal LMS
|
| Oligoastrocytoma | somatic driver somatic | |
| Diffuse Astrocytoma |
untyped
Somatic Mutation
|
|
| Gastroenteropancreatic Neuroendocrine Neoplasm |
untyped
Inactivating mutations in ~18% of pancreatic NETs; mutually exclusive with DAXX
|
|
| IDH-Mutant Astrocytoma |
untyped
Somatic Mutation
|
|
| Leiomyosarcoma |
untyped
Somatic mutation
|
|
| Neuroblastoma |
untyped
Alternative Lengthening of Telomeres
|
|
| Osteosarcoma |
untyped
Inactivation
|
|
| Pancreatic Neuroendocrine Tumor |
untyped
Inactivating mutations in ~18% of pNETs; mutually exclusive with DAXX
|
|
| Non-functional Pancreatic Neuroendocrine Tumor | no genetic record somatic |
mechanism: MEN1/DAXX/ATRX Chromatin Regulator Inactivation
|
| PPM-X Syndrome | no genetic record |
mechanism: Selective Loss of ATRX Recruitment with Preserved Methyl-CpG Binding
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| ATR-X-related syndrome MONDO:0016980 | XL | Definitive 2021-09-28 |
ATR-X-Related Syndrome
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.