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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 21/08/2006 |
Symbol | MTCL |
Location | 11q22.3 |
Name | mantle cell lymphoma |
Corresponding gene | ATM |
Main clinical features | lymphoma |
Genetic determination | other |
Related entries | TSG11F |
Function/system disorder | hematology |
Type | malignancy |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments | |
---|---|---|---|---|
translocation | acquired, somatic t(11;14)(q13;q32) is considered the cytogenetic hallmark of the disease | |||
deletion | somatic deletion of the 11q22-q23 region | |||
various types | abnormal protein/loss of function | inactivation of both alleles of the ATM gene with deletion of one allele, point mutation in the other or two point mutations,consistently occuring secundary chromosome changes |
Remark(s) |