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Interpretation 40
Tier 1
GATA3
Variants
Primary Sites
Blood
Bone Marrow
Tumor Types
T Lymphoblastic Leukemia/Lymphoma
Interpretation

GATA 3 is a transcription factor important in T cell development and is known to be mutated in certain syndromes(hypoparathroidism, deafness, renal dysplasia). Missense, frameshift and insertion/deletion mutations in the zinc finger domain have been reported in 10-15% of early T cell precursor ALL and may be associated with biallelic mutations or concomitant deletion of the second allele.

Citations
  1. Zhang J, et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 2012;481(7380):157-63
Last updated: 2016-06-04 23:29:35 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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