Gene Information
ATM serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:795]
ATM variants are associated with 7 diseases including ataxia - telangiectasia variant and B-cell chronic lymphocytic leukemia and 5 others, with 48 documented clinical phenotypes.
The ATM gene is associated with 7 medical conditions, including:
Research has identified 48 phenotypic features associated with ATM variants:
Inability to walk
HP:0002540
Dystonia
HP:0001332
Leukemia
HP:0001909
Abnormal B cell count
HP:0010975
Bronchiectasis
HP:0002110
Intention tremor
HP:0002080
Tremor
HP:0001337
Female hypogonadism
HP:0000134
Short stature
HP:0004322
Diabetes mellitus
HP:0000819
Ataxia
HP:0001251
Nystagmus
HP:0000639
Choreoathetosis
HP:0001266
Recurrent bronchitis
HP:0002837
Lymphoma
HP:0002665
ClinVar contains 10 variants associated with ATM. Below are some notable variants:
NM_000051.4(ATM):c.7823C>T (p.Thr2608Ile)
Uncertain significanceVCV004527416
Review: criteria provided, single submitter
NC_000011.9:g.(?_108225537)_(108236236_?)dup
Likely pathogenicVCV004526421
Review: criteria provided, single submitter
NM_000051.4(ATM):c.1095del (p.Ile366fs)
Likely pathogenicVCV004294404
Review: criteria provided, single submitter
NM_000051.4(ATM):c.6096-10T>A
Likely benignVCV004294400
Review: criteria provided, single submitter
NM_000051.4(ATM):c.5319G>A (p.Lys1773=)
Likely pathogenicVCV004294292
Review: criteria provided, single submitter
There are 12,549 publications about ATM indexed in PubMed. Below are some recent papers:
Asymptomatic T prolymphocytic leukemia: case report and literature review.
Honorato Junior LFB, Souto EX, Safranauskas RMDSO
PMID: 41259500
•
2025
•
Einstein (Sao Paulo)
Beyond the nucleus: the ATM-CHEK2 axis senses mtROS to orchestrate Mitophagy.
Guo QQ, Song XY, Cao L
PMID: 41257485
•
2025 Nov 19
•
Autophagy
CDK4 or CDK6 upregulation induces DNA replication stress and genomic instability to cause EGFR targeted therapy resistance in lung cancer.
Gini B, Gui P, Wu W
PMID: 41256559
•
2025 Sep 30
•
bioRxiv
Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.
Pertesi M, Demangel D, Niroula A
PMID: 41254116
•
2025 Nov 18
•
Leukemia
Effect of different levels of operating pressure and drying temperature on thin layer modeling and drying costs of mint leaves.
Mansour NE, Metwally KA, Alsakran AA
PMID: 41253862
•
2025 Nov 18
•
Sci Rep
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Trusted Data Sources
Last updated: 11/20/2025