×
Entrez Id:
2623
Gene Symbol:
GATA1
GATA1
Anemia, Diamond-Blackfan
0.700
GermlineCausalMutation
ORPHANET
Moreover, the defective hematopoiesis observed in patients with DBA associated with ribosomal protein haploinsufficiency could be partially overcome by increasing GATA1 protein levels.
24952648
2014
×
Entrez Id:
2623
Gene Symbol:
GATA1
GATA1
Anemia, Diamond-Blackfan
0.700
GermlineCausalMutation
ORPHANET
We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1 .
22706301
2012
×
Entrez Id:
51816
Gene Symbol:
ADA2
ADA2
Anemia, Diamond-Blackfan
0.610
GermlineCausalMutation
ORPHANET
We further identified rare mutations in seven previously unreported RP genes that may cause DBA , as well as several distinct disorders that appear to phenocopy DBA , including nine individuals with biallelic CECR1 mutations that result in deficiency of ADA2 .
30503522
2018
×
Entrez Id:
6232
Gene Symbol:
RPS27
RPS27
Anemia, Diamond-Blackfan
0.510
GeneticVariation
ORPHANET
Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia .
25424902
2015
×
Entrez Id:
6155
Gene Symbol:
RPL27
RPL27
Anemia, Diamond-Blackfan
0.510
GeneticVariation
ORPHANET
Here, we identified a de novo splicing error mutation in RPL27 and frameshift deletion in RPS27 in sporadic patients with Diamond-Blackfan anaemia .
25424902
2015
×
Entrez Id:
6235
Gene Symbol:
RPS29
RPS29
Anemia, Diamond-Blackfan
0.510
GermlineCausalMutation
ORPHANET
We demonstrated that both RPS29 mutations failed to rescue the defective erythropoiesis in the rps29 (-/-) mutant zebra fish DBA model.
24829207
2014
×
Entrez Id:
6138
Gene Symbol:
RPL15
RPL15
Anemia, Diamond-Blackfan
0.510
GermlineCausalMutation
ORPHANET
These data identify RPL15 as a new gene involved in DBA and further support the presence of large deletions in RP genes in DBA patients.
23812780
2013
×
Entrez Id:
6154
Gene Symbol:
RPL26
RPL26
Anemia, Diamond-Blackfan
0.510
GermlineCausalMutation
ORPHANET
Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA .
22431104
2012
×
Entrez Id:
6141
Gene Symbol:
RPL18
RPL18
Anemia, Diamond-Blackfan
0.500
GermlineCausalMutation
ORPHANET
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
28280134
2017
×
Entrez Id:
11224
Gene Symbol:
RPL35
RPL35
Anemia, Diamond-Blackfan
0.500
GermlineCausalMutation
ORPHANET
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
28280134
2017
×
Entrez Id:
90121
Gene Symbol:
TSR2
TSR2
Anemia, Diamond-Blackfan
0.500
GermlineCausalMutation
ORPHANET
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
24942156
2014
×
Entrez Id:
6234
Gene Symbol:
RPS28
RPS28
Anemia, Diamond-Blackfan
0.500
GermlineCausalMutation
ORPHANET
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 .
24942156
2014
×
Entrez Id:
6210
Gene Symbol:
RPS15A
RPS15A
Anemia, Diamond-Blackfan
0.300
GermlineCausalMutation
ORPHANET
Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia.
27909223
2017