ATM - Gene browser

ATM

ATM serine/threonine kinase

HCNC Approved Symbol: ATM (HGNC:795)
Genomic Coordinates: 11:108,223,067 - 108,369,102 (11q22.3)
Synonyms: TEL1, TELO1, ATA, ATDC, ATC, ATD
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

79Patients

In total, 79 patients were diagnosed with a variant in the ATM gene.

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

079
Patient count

Ataxia: 36 (45.6%)
Patient Count: 36 (45.6%)
% of total patients presenting each phenotype is shown in parentheses.
36 (45.6%)
Telangiectasia: 11 (13.9%)
Patient Count: 11 (13.9%)
% of total patients presenting each phenotype is shown in parentheses.
11 (13.9%)
Developmental regression: 11 (13.9%)
Patient Count: 11 (13.9%)
% of total patients presenting each phenotype is shown in parentheses.
11 (13.9%)
Gait ataxia: 9 (11.4%)
Patient Count: 9 (11.4%)
% of total patients presenting each phenotype is shown in parentheses.
9 (11.4%)
Cerebellar atrophy: 9 (11.4%)
Patient Count: 9 (11.4%)
% of total patients presenting each phenotype is shown in parentheses.
9 (11.4%)