Normal function · from ai-gene-review (Q13315, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

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.

DisorderRelationshipWhere the gene appears
Angiosarcoma unknown somatic
Ataxia-telangiectasia causative germline
mechanism: ATM kinase deficiency and defective DNA-damage signaling
subtype: Classic ataxia-telangiectasia; Variant ataxia-telangiectasia
computational model: ATM p.Ala2386Glu variant-structure predictions; ATM/ATR DNA-damage-response and drug-repurposing ODE model
treatment: Atipeksen for ATM c.7865C>T
Mantle Cell Lymphoma untyped
Intermediate-Risk Marker
Pancreatic Ductal Adenocarcinoma untyped
Inherited susceptibility
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 diseaseMOIClassificationdismech entry
ataxia telangiectasia MONDO:0008840 AR Definitive
2021-07-27
ATM-related cancer predisposition MONDO:0700270 AD Definitive
2024-11-22
no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.