|
MYELODYSPLASTIC SYNDROME
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.
|
22147895 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.820 |
GeneticVariation
|
BEFREE |
We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.
|
21892162 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.720 |
GeneticVariation
|
BEFREE |
We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.
|
21892162 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.720 |
GeneticVariation
|
BEFREE |
Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.
|
22147895 |
2012 |
|
Monosomy
|
|
0.010 |
GeneticVariation
|
BEFREE |
A GATA2 p.Thr354Met mutation was observed in a pedigree in which 2 first-degree cousins developed high-risk myelodys-plastic syndrome with monosomy 7.
|
22271902 |
2012 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.820 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
GATA2 Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
|
21670465 |
2011 |
|
GATA2 Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
|
21892162 |
2011 |
|
GATA2 Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
|
GATA2 Deficiency
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
|
25676417 |
2015 |
|
Leukemia, Myelocytic, Acute
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.
|
21765025 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus.
|
22147895 |
2012 |
|
Emberger Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
|
21670465 |
2011 |
|
Emberger Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.
|
23365458 |
2013 |
|
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
|
|
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
|
Emberger Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.
|
25676417 |
2015 |
|
Emberger Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
|
21892162 |
2011 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.820 |
GeneticVariation
|
UNIPROT |
We found the same, previously unidentified heterozygous c.1061C>T (p.Thr354Met) missense mutation in the GATA2 transcription factor gene segregating with the multigenerational transmission of MDS-AML in three families and a GATA2 c.1063_1065delACA (p.Thr355del) mutation at an adjacent codon in a fourth MDS family.
|
21892162 |
2011 |
|
GATA2 Deficiency
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
|
21670465 |
2011 |