The GATA1 Database is a curated repository of germline GATA1 variants identified in patients through published literature. Our goal is to provide a comprehensive knowledge base for understanding germline GATA1 disorders.

If you are interested in contributing variants, please contact wlodarskilab@stjude.org

GATA1 transcript version is NM_002049.3. Curated by Lili Kotmayer, MD, PhD. Last updated: 09/30/2025.

Patient ID GATA1 mutation (cDNA) GATA1 mutation (Protein) Type of mutation Zygosity Variant impact gnomAD (v4.1.0) population frequency Year of reporting PMID Patient also reported in (PMID) Original patient ID Family Disease Gender (M/F) Age at first presentation Red blood cells Thrombocytes Bleeding history WBC Bone marrow Karyotype Organomegaly Heme malignancy Other symptoms Notes
P001 c.613G>A p.Val205Met Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2000 10700180   I-2 Family #1 X-linked severe dyserythropoietic anemia and thrombocytopenia F 28 years   Mild chronic thrombocytopenia            
P002 c.613G>A p.Val205Met Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2000 10700180   II-1 Family #1 X-linked severe dyserythropoietic anemia and thrombocytopenia M 8 months Anemia Severe thrombocytopenia   Hypercellular, dyserythropoiesis, dysplastic megakaryocytes Cryptorchidism In utero fetal blood transfusion
P003 c.613G>A p.Val205Met Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2000 10700180   II-2 Family #1 X-linked severe dyserythropoietic anemia and thrombocytopenia M 23 months Anemia Severe thrombocytopenia   Hypercellular, dyserythropoiesis, dysplastic megakaryocytes Cryptorchidism In utero fetal blood transfusion
P004 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2000 10733494 12200364, 15701726, 871527 III-5 Family #2 X-linked thrombocytopenia with thalassemia M NA Elevated HbA2 Severe thrombocytopenia             Only confirmed carriers included
P005 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2000 10733494 12200364, 15701726, 871527 III-7 Family #2 X-linked thrombocytopenia with thalassemia M NA Elevated HbA2 Severe thrombocytopenia             Only confirmed carriers included
P006 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2000 10733494 12200364, 15701726, 871527 IV-3 Family #2 X-linked thrombocytopenia with thalassemia M NA Elevated HbA2 Severe thrombocytopenia             Only confirmed carriers included
P007 c.622_623delinsTC p.Gly208Ser Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2001 11675338 17763153, 18041654 I-2 Family #3 Asymptomatic F NA                    
P008 c.622_623delinsTC p.Gly208Ser Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11675338 17763153, 18041654 II-2 Family #3 X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia M NA   Macrothrombocytopenia Recurrent epistaxis, easy bruising, petechiae, prolonged bleeding, GI bleeding secondary to gastritis or peptic ulcer Mild dyserythropoiesis       Elevated TPO levels
P009 c.622_623delinsTC p.Gly208Ser Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11675338 17763153, 18041654 II-4 Family #3 X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia M NA Macrocytosis, nucleated RBCs Macrothrombocytopenia Recurrent epistaxis, easy bruising, petechiae, prolonged bleeding Mild dyserythropoiesis       Elevated TPO levels
P010 c.622_623delinsTC p.Gly208Ser Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11675338 17763153, 18041654 II-5 Family #3 X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia M NA Macrocytosis, nucleated RBCs Macrothrombocytopenia Recurrent epistaxis, easy bruising, petechiae, prolonged bleeding Mild dyserythropoiesis       Elevated TPO levels
P011 c.622_623delinsTC p.Gly208Ser Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2001 11675338 17763153, 18041654 II-7 Family #3 Asymptomatic F NA                    
P012 c.622_623delinsTC p.Gly208Ser Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11675338 17763153, 18041654 III-9 Family #3 X-linked macrothrombocytopenia and mild dyserythropoiesis without anemia M Birth   Severe thrombocytopenia Bleeding epistasis            
P013 c.653A>G p.Glu218Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2002 11809723   Boy #1 Family #4 X-linked dyserythropoietic anemia and deep macrothrombocytopenia M <2 years                   Died before age of 2 years
P014 c.653A>G p.Glu218Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2002 11809723   Boy #2 Family #4 X-linked dyserythropoietic anemia and deep macrothrombocytopenia M <2 years                   Died before age of 2 years
P015 c.653A>G p.Glu218Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2002 11809723   Boy #3 Family #4 X-linked dyserythropoietic anemia and deep macrothrombocytopenia M <2 years                   Died before age of 2 years
P016 c.653A>G p.Glu218Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2002 11809723   Boy #4 Family #4 X-linked dyserythropoietic anemia and deep macrothrombocytopenia M <2 years                   Died before age of 2 years
P017 c.653A>G p.Glu218Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2002 11809723   Boy #5 Family #4 X-linked dyserythropoietic anemia and deep macrothrombocytopenia M <2 years                   Died before age of 2 years
P018 c.653A>G p.Glu218Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2002 11809723   Boy #6 Family #4 X-linked dyserythropoietic anemia and deep macrothrombocytopenia M <2 years                   Died before age of 2 years
P019 c.653A>G p.Glu218Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2002 11809723   III-1 Family #4 X-linked dyserythropoietic anemia and deep macrothrombocytopenia M 1 year Transfusion-dependent anemia Macrothrombocytopenia   Dyserythropoiesis        
P020 c.653A>G p.Glu218Tyr Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2002 11809723   Mother of III-1 Family #4 Asymptomatic F NA                    
P021 c.652G>T p.Glu218Gly Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11418466   V-3 Family #5 X-linked thrombocytopenia without anemia M NA   Macrothrombocytopenia              
P022 c.652G>T p.Glu218Gly Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11418466   V-7 Family #5 X-linked thrombocytopenia without anemia M NA   Macrothrombocytopenia              
P023 c.652G>T p.Glu218Gly Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11418466   V-8 Family #5 X-linked thrombocytopenia without anemia M NA   Macrothrombocytopenia              
P024 c.652G>T p.Glu218Gly Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11418466   V-17 Family #5 X-linked thrombocytopenia without anemia M NA   Macrothrombocytopenia              
P025 c.652G>T p.Glu218Gly Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2001 11418466   V-20 Family #5 X-linked thrombocytopenia without anemia M NA   Macrothrombocytopenia              
P026 c.652G>T p.Glu218Gly Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2001 11418466   V-16 Family #5 Asymptomatic F NA                    
P027 c.652G>T p.Glu218Gly Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2001 11418466   IV-4 Family #5 Asymptomatic F NA                    
P028 c.652G>T p.Glu218Gly Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2001 11418466   IV-1 Family #5 Asymptomatic F NA                    
P029 c.652G>T p.Glu218Gly Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2001 11418466   VI-5 Family #5 Asymptomatic F NA                    
P030 c.622G>A p.Gly208Arg Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2005 16103636   Subject II-3 Family #6 X-linked severe dyserythropoietic anemia and thrombocytopenia M Birth Transfusion-dependent anemia Thrombocytopenia Easy bruising, petechiae and mucosal hemorrhage (epistaxis), the frequency of mucosal and severe bleeding has diminished in adulthood Increased number of binoculated erythroid precursors, atypical megakaryocytes Cryptorchidism The frequency of mucosal and severe bleeding has diminished in adulthood
P031 c.622G>A p.Gly208Arg Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2005 16103636   Mother of subject II-3 Family #6 Asymptomatic F NA   Mild thrombocytopenia              
P032 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   II-5 Family #7 X-linked anemia without thrombocytopenia M 40 years Macrocytic anemia     Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P033 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   II-7 Family #7 X-linked anemia without thrombocytopenia M 24 years Macrocytic anemia   Neutropenia Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P034 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   II-8 Family #7 X-linked anemia without thrombocytopenia M 35 years Macrocytic anemia     Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P035 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   III-6 Family #7 X-linked anemia without thrombocytopenia M 12 years Macrocytic anemia   Neutropenia Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P036 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   III-10 Family #7 X-linked anemia without thrombocytopenia M 20 months Macrocytic anemia   Neutropenia Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P037 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   III-12 Family #7 X-linked anemia without thrombocytopenia M 2 months Macrocytic anemia   Neutropenia Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P038 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   III-16 Family #7 X-linked anemia without thrombocytopenia M 4 years Macrocytic anemia   Neutropenia Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P039 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2006 16783379   III-17 Family #7 X-linked anemia without thrombocytopenia M 17 years Macrocytic anemia   Neutropenia Trilineage dysplasia, hypocellularity of erythroid and granulocytic lineages Variant originally annotated as c.332G>C
P040 c.220G>C p.Val74Leu Missense Heterozygous GATA1s produced only Absent 2006 16783379   I-1 Family #7 Asymptomatic F NA                   Variant originally annotated as c.332G>C
P041 c.220G>C p.Val74Leu Missense Heterozygous GATA1s produced only Absent 2006 16783379   II-9 Family #7 Asymptomatic F NA                   Variant originally annotated as c.332G>C
P042 c.220G>C p.Val74Leu Missense Heterozygous GATA1s produced only Absent 2006 16783379   II-13 Family #7 Asymptomatic F NA                   Variant originally annotated as c.332G>C
P043 c.220G>C p.Val74Leu Missense Heterozygous GATA1s produced only Absent 2006 16783379   III-11 Family #7 Asymptomatic F NA                   Variant originally annotated as c.332G>C
P044 c.646C>T p.Arg216Trp Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2007 17148589   3-year-old boy Family #8 Congenital erythropoietic porphyria M 3 years Hypochromic, microcytic anemia, elevated HbF levels consistent with beta thalassemia Thrombocytopenia   Hypercellular marrow, erythroid hyperplasia, dyserythropoiesis Splenomegaly Photosensitive bullous dermatosis, generalized hirsutism, short for age HSCT corrected the porphyria and thalassemia
P045 c.646C>T p.Arg216Trp Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2007 17148589   Mother of boy Family #8 Asymptomatic F Adult                    
P046 c.646C>T p.Arg216Trp Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2007 17148589   Grandmother of boy Family #8 Chronic anemia F Adult Chronic anemia Thrombocytopenia              
P047 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2007 17209061   III-A Family #9 X-linked thrombocytopenia and gray platelet syndrome M Adult Mild microcytosis, elevated RDW Thrombocytopenia, increased MPV, large, abnormal, pale platelets        
P048 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2007 17209061   III-D Family #9 X-linked thrombocytopenia and gray platelet syndrome M Adult Mild microcytosis, elevated RDW, beta thalassemia Thrombocytopenia, increased MPV, large, abnormal, pale platelets        
P049 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2007 17209061   III-S Family #9 X-linked thrombocytopenia and gray platelet syndrome M Adult Mild microcytosis, elevated RDW, beta thalassemia Thrombocytopenia, increased MPV, large, abnormal, pale platelets        
P050 c.647G>A p.Arg216Gln Missense Heterozygous Low DNA or FOG1 binding capacity 0.00025% 2007 17209061   II-B Family #9 Asymptomatic F Adult   2 platelet populations (normal and large, abnormal, pale platelets)        
P051 c.647G>A p.Arg216Gln Missense Heterozygous Low DNA or FOG1 binding capacity 0.00025% 2007 17209061   II-H Family #9 Asymptomatic F Adult   2 platelet populations (normal and large, abnormal, pale platelets)        
P052 c.647G>A p.Arg216Gln Missense Heterozygous Low DNA or FOG1 binding capacity 0.00025% 2007 17209061   IV-F Family #9 Asymptomatic F NA   2 platelet populations (normal and large, abnormal, pale platelets)        
P053 c.647G>A p.Arg216Gln Missense Heterozygous Low DNA or FOG1 binding capacity 0.00025% 2007 17209061   IV-M Family #9 Asymptomatic F 1 year   2 platelet populations (normal and large, abnormal, pale platelets)        
P054 c.622G>A p.Gly208Arg Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2008 17713552   Newborn boy Family #10 X-linked anemia with thrombocytopenia M Birth Anemia Thrombocytopenia Leukocytosis Dyserythropoiesis, dysmegakaryopoiesis Hepatosplenomegaly Extramedullary hematopoiesis
P055 c.622G>A p.Gly208Arg Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2008 17713552   Mother Family #10 Asymptomatic F Adult   Mild thrombocytopenia              
P056 c.622G>A p.Gly208Arg Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2010 20922527 4790272, 3423766 II-6 Family #11 Progressive thrombocytopenia F 90 years   Thrombocytopenia             Miscarriage
P057 c.622G>A p.Gly208Arg Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2010 20922527 4790272, 3423766 III-10 Family #11 Asymptomatic F 63 years                   2 miscarriages
P058 c.622G>A p.Gly208Arg Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2010 20922527 4790272, 3423766 IV-2 Family #11 X-linked anemia with thrombocytopenia M 4 months Mild macrocytic, dyserythropoietic anemia Severe thrombocytopenia Extensive mucocutaneous bleeding after birth, epistaxis and gastrointestinal hemorrhage during infancy and childhood Eosinopenia     Hepatosplenomegaly Splenectomy, asymptomatic paraspinal tumor and tophaceous gout in adulthood, skeletal abnormalities
P059 c.622G>A p.Gly208Arg Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2010 20922527 4790272, 3423766 III-4 Family #11 Thrombocytopenia F 44 years   Thrombocytopenia             3 miscarriages
P060 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2012 22706301 24766296 II-1 Family #12 Diamond-Blackfan anemia M 3 years Macrocytic anemia,  low reticulocyte counts, elevated HbF levels Mild thrombocytopenia              
P061 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2012 22706301 24766296 II-3 Family #12 Diamond-Blackfan anemia M 11 years Macrocytic anemia,  low reticulocyte counts, elevated HbF levels, elevated eADA levels      
P062 c.220+1del p.? Splicing Hemizygous GATA1s produced only Absent 2012 22706301   DBA patient Family #13 Diamond-Blackfan anemia M NA Anemia                  
P063 c.652G>A p.Glu218Asp Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2014 23971719   III-4 Family #14 X-linked thrombocytopenia M Childhood   Macrothrombocytopenia Hematomas, ecchymosis, epistaxis, gingival bleeding Hypermegakaryopoiesis with increased number of immature megakaryoblasts Splenectomy
P064 c.652G>A p.Glu218Asp Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2014 23971719   III-10 Family #14 X-linked thrombocytopenia M Childhood   Macrothrombocytopenia Hematomas, ecchymosis, epistaxis, gingival bleeding Hypermegakaryopoiesis with increased number of immature megakaryoblasts Splenectomy
P065 c.2T>C p.Met1? Start loss Hemizygous GATA1s produced only Absent 2014 24453067   Patient number 10 Family #15 Diamond-Blackfan anemia, MDS M 9 months Hyporegenerative normochromic-macrocytic anemia, elevated eADA levels Trilineage hypoplasia, dyserythropoiesis Monosomy 7, trisomy 21 MDS   HSCT
P066 c.871-24C>T p.= Intronic Hemizygous Low DNA or FOG1 binding capacity Absent 2019 30914438   1 Family #16 Anemia with thrombocytopenia M Birth Macrocytic anemia Moderate thrombocytopenia Lower gastrointestinal bleeding, epistaxis Moderate dyserythropoiesis, small hypolobated megakaryocytes, occasional dysplastic myeloid cells Hypospadia, Mycoplasma pneumonia
P067 c.871-24C>T p.= Intronic Hemizygous Low DNA or FOG1 binding capacity Absent 2019 30914438   2 Family #17 Anemia with thrombocytopenia M Birth Severe anemia, elevated eADA and HbF levels Thrombocytopenia   Moderate dyserythropoiesis, small hypolobated megakaryocytes, occasional dysplastic myeloid cells Hydrops fetalis, intrauterine transfusion
P068 c.788C>T p.Thr263Met Missense Heterozygous Low DNA or FOG1 binding capacity 0.000083% 2021 33611093   III-4 Family #18 PMF F 41 years Anemia Thrombocytopenia Leukocytosis, neutrophilia Hypercellularity, dysmegakaryopoiesis, increased granulocyte/erythroblasts ratio, mild dyserythropoiesis, fibrosis Monosomy 7        
P069 c.788C>T p.Thr263Met Missense Heterozygous Low DNA or FOG1 binding capacity 0.000083% 2021 33611093   III-5 Family #18 PMF F 42 years Anemia Thrombocytopenia Leukocytosis, neutrophilia Hypercellularity, dysmegakaryopoiesis, increased granulocyte/erythroblasts ratio, mild dyserythropoiesis, fibrosis
P070 c.788C>T p.Thr263Met Missense Heterozygous Low DNA or FOG1 binding capacity 0.000083% 2021 33611093   II-2 Family #18 Myeloid disorder F NA   Late-onset thrombocytopenia Hypercellularity, dysmegakaryopoiesis, increased granulocyte/erythroblasts ratio, mild dyserythropoiesis
P071 c.788C>T p.Thr263Met Missense Heterozygous Low DNA or FOG1 binding capacity 0.000083% 2021 33611093   IV-2 Family #18 Myeloid disorder F NA                    
P072 c.788C>T p.Thr263Met Missense Heterozygous Low DNA or FOG1 binding capacity 0.000083% 2021 33611093   IV-4 Family #18 Myeloid disorder F NA                    
P073 c.-21A>G p.? 5' UTR Heterozygous GATA1s produced only Absent 2022 34758059   IV-2 Family #19 AMKL F 27 months Macrocytosis, extreme lyonization     Monosomy 7, trisomy 21, t(11;21)(q23;q21) MDS, AMKL   HSCT, somatic RUNX1 mutation
P074 c.-21A>G p.? 5' UTR Hemizygous GATA1s produced only Absent 2022 34758059   III-2 Family #19 MDS with trilineage dysplasia M 47 years Anemia         Normal   MDS with trilineage dysplasia HSCT, somatic ASXL1 mutation
P075 c.2T>C p.Met1? Start loss Heterozygous GATA1s produced only Absent 2022 34758059   III-2 Family #20 AMKL F 18 months         Hypoplasia, mild erythroid and megakaryocytic dysplasia Trisomy 11, trisomy 21, trisomy 8, t(1;14) AMKL    
P076 c.2T>C p.Met1? Start loss Hemizygous GATA1s produced only Absent 2022 34758059   III-3 Family #20 Congenital dyserythropoietic anemia M 6 months                    
P077 c.2T>C p.Met1? Start loss Heterozygous GATA1s produced only Absent 2022 34758059   II-2 Family #20 Asymptomatic F Adult Macrocytic anemia                
P078 c.2T>C p.Met1? Start loss Hemizygous GATA1s produced only Absent 2022 34758059   III-4 Family #20 AMKL M 21 months                   HSCT
P079 c.94del p.Val32PhefsX105 Frameshift Heterozygous GATA1s produced only Absent 2022 35941211   III-4 Family #21 Transient abnormal myelopoiesis with transient trisomy 21 F 27 days Severe anemia Thrombocytopenia Petechiae, ecchymoses   Transient trisomy 21 Hepatosplenomegaly TAM    
P080 c.94del p.Val32PhefsX105 Frameshift Heterozygous GATA1s produced only Absent 2022 35941211   I-1 Family #21 Anemia with thrombocytopenia F 43 years Moderate anemia Thrombocytopenia              
P081 c.94del p.Val32PhefsX105 Frameshift Heterozygous GATA1s produced only Absent 2022 35941211   II-2 Family #21 Anemia with thrombocytopenia F 23 years Moderate anemia Thrombocytopenia              
P082 c.515T>C p.Phe172Ser Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2023 37460606   II-1 (Twin 1) Family #22 GATA1 mutation-related cytopenia M 3 years Anemia Thrombocytopenia Intermittent nosebleeds after hand-foot-mouth disease BM hyperplasia       HSCT
P083 c.515T>C p.Phe172Ser Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2023 37460606   II-2 (Twin 2) Family #22 GATA1 mutation-related cytopenia M 3 years Anemia Thrombocytopenia Intermittent nosebleeds after hand-foot-mouth disease BM hyperplasia       HSCT
P084 c.515T>C p.Phe172Ser Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2023 37460606   Mother Family #22 Asymptomatic F NA                    
P085 c.515T>C p.Phe172Ser Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2023 37460606   Grandmother Family #22 Asymptomatic F NA                    
P086 c.515T>C p.Phe172Ser Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2023 37460606   Great-grandmother Family #22 Asymptomatic F NA                    
P087 c.865C>T p.His289Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 36291092   BI.1 Family #23 Prolonged bleeding with normal platelet counts M 13 years   Normal platelet counts Prolonged bleeding and impaired wound healing following an operation, epistaxis, atraumatic hematomas Prolonged bleeding time
P088 c.865C>T p.His289Tyr Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2022 36291092   BII.2 Family #23 Asymptomatic F Adult   Normal platelet counts Prolonged postnatal bleeding          
P089 c.865C>T p.His289Tyr Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 36291092   CI.1 Family #24 Thrombocytopenia M 14 years   Mild thrombocytopenia Bleeding diathesis, epistaxis, ecchymosis, disproportionate bruising,  hematomas with minor trauma, impaired wound healing
P090 c.865C>T p.His289Tyr Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2022 36291092   CI.2 Family #24 Asymptomatic F NA                    
P091 c.865C>T p.His289Tyr Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2022 36291092   CII.2 Family #24 Asymptomatic F Adult                    
P092 c.652G>A p.Glu218Asp Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 36291092   AI.1 Family #25 Severe chronic thrombocytopenia M 4 years   Severe chronic thrombocytopenia Frequent hematomas, epistaxis, gingival bleeding       Prolonged bleeding time
P093 c.652G>A p.Glu218Asp Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 36291092   AI.2 Family #25 Severe chronic thrombocytopenia M Childhood   Severe chronic thrombocytopenia Atraumatic hematomas, epistaxis, gingival bleeding       Prolonged bleeding time
P094 c.652G>A p.Glu218Asp Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2022 36291092   AII.1 Family #25 Asymptomatic F Adult     Hypermenorrhoea, menorrhagia          
P095 c.886A>C p.Thr296Pro Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 36231035   Index Patient Family #26 Thrombocytopenia M 36 years   Macrothrombocytes, thrombocytopenia Bleeding              
P096 c.886A>C p.Thr296Pro Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2022 36231035   Daughter Family #26 Spherocytosis F 4 years Spherocytosis, hemolysis Macrothrombocytes, normal platelet counts Bleeding             Pathogenic SCL4A1 variant
P097 c.886A>C p.Thr296Pro Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2022 36231035   Mother Family #26 Asymptomatic F 59 years                    
P098 c.-19-679_221-48delinsTC p.Met1? Start loss Hemizygous Low DNA or FOG1 binding capacity Absent 2023 36765901   B3 Family #27 AML, ALL M 29 years           Normal   AML, ALL   Somatic MPL mutation
P099 c.-21A>G p.? 5' UTR Hemizygous GATA1s produced only Absent 2015 26713410   4-year-old boy Family #28 Chronic anemia with thrombocytosis M 4 years Dyserythropoietic anemia, reticulocytopenia Thrombocytosis, functional platelet defect Megakaryocyte dysplasia Dyserythropoiesis        
P100 c.-21A>G p.? 5' UTR Heterozygous GATA1s produced only Absent 2015 26713410   Mother of 4-year-old boy Family #28 Asymptomatic F Adult                    
P101 c.220+2T>C p.? Splicing Hemizygous GATA1s produced only Absent 2022 35328001   11-year-old boy of Somalian descent Family #29 Diamond-Blackfan-like anemia M 7 months Moderately severe anemia, macrocytosis, elevated HbF Mild dysmegakaryopoiesis   Dyserythropoiesis     Short stature (normal growth velocity)
P102 c.2T>C p.Met1? Start loss Hemizygous GATA1s produced only Absent 2022 35328001   Iranian boy Family #30 Diamond-Blackfan-like anemia M 5 years Severe macrocytic anemia Thrombocytosis   Normal erythropoiesis        
P103 c.220G>C p.Val74Leu Missense Heterozygous GATA1s produced only Absent 2014 24766296   I:2 Family #31 Asymptomatic F NA                    
P104 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2014 24766296   II:2 Family #31 Diamond-Blackfan anemia M 3 months Macrocytic anemia, low reticulocyte count, modest elevation of HbF Erythroid hypoplasia        
P105 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2014 24766296   II:3 Family #31 Diamond-Blackfan anemia M 3 months Macrocytic anemia, low reticulocyte count, modest elevation of HbF Erythroid hypoplasia        
P106 c.220G>C p.Val74Leu Missense Hemizygous GATA1s produced only Absent 2014 24766296   II:4 Family #31 Diamond-Blackfan anemia M 3 months Macrocytic anemia, low reticulocyte count, modest elevation of HbF Erythroid hypoplasia        
P107 c.2T>C p.Met1? Start loss Hemizygous GATA1s produced only Absent 2014 24952648   Male patient Family #32 Diamond-Blackfan anemia M NA Anemia                  
P108 c.2T>C p.Met1? Start loss Heterozygous GATA1s produced only Absent 2014 24952648   Mother of male patient Family #32 Asymptomatic F Adult                    
P109 c.3G>A p.Met1? Start loss Hemizygous GATA1s produced only Absent 2022 36029112   Chinese boy Family #33 Diamond-Blackfan anemia M 9 years Severe anemia     Erythroid aplasia, aggregation of megakaryocytes and platelets Hepatomegaly (possibly due to iron overload) Hypertelorism, flat nasal bridge
P110 c.617A>T p.Asn206Ile Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2021 34060193   II‐1 Family #34 Thrombocytopenia without anemia M 18 months   Thrombocytopenia   Mild dyserythropoiesis with erythroblastosis, nuclear karyorrhexis  
P111 c.617A>T p.Asn206Ile Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2021 34060193   I-3 Family #34 Asymptomatic F Adult                    
P112 c.802C>A p.Leu268Met Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2021 34060193   II-1 Family #35 Thrombocytopenia without anemia M >5 years Elevated HbF Thrombocytopenia, platelet aggregation defect Mucocutaneous bleedings           Prolonged bleeding time
P113 c.802C>A p.Leu268Met Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2021 34060193   II-2 Family #35 Thrombocytopenia without anemia M 3 years Elevated HbF Thrombocytopenia, platelet aggregation defect Mucocutaneous bleedings           Prolonged bleeding time
P114 c.802C>A p.Leu268Met Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2021 34060193   I-1 Family #35 Asymptomatic F Adult                    
P115 c.920G>A p.Arg307His Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 35580337   5-year-old boy Family #36 Severe intrauterine anemia M 5 years Severe intrauterine anemia, macrocytosis, elevated HbF Mild macrothrombocytopenia Dyserythropoiesis       In utero fetal blood transfusion
P116 c.919C>T p.Arg307Cys Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 35030251   Case 1 Family #37 Hemolytic anemia M NA Hemolytic anemia, elevated eADA   Erythroid hyperplasia       Mother has elevated eADA but not a confirmed carrier (not incuded)
P117 c.920G>A p.Arg307His Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 35030251   Case 2 Family #38 Hemolytic anemia M NA Hemolytic anemia, elevated eADA   Erythroid hyperplasia       Mother has elevated eADA but not a confirmed carrier (not incuded)
P118 c.920G>A p.Arg307His Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2022 35030251   Case 3 Family #39 Hemolytic anemia M NA Hemolytic anemia, elevated eADA   Erythroid hyperplasia       Mother has elevated eADA but not a confirmed carrier (not incuded)
P119 c.871-24C>T p.= Intronic Heterozygous Low DNA or FOG1 binding capacity Absent 2022 35846220   III-7 (mother of Individual 35) Family #40 Asymptomatic F Adult                    
P120 c.871-24C>T p.= Intronic Heterozygous Low DNA or FOG1 binding capacity Absent 2022 35846220   III-10 (mother of Individual 36) Family #40 Asymptomatic F Adult                    
P121 c.871-24C>T p.= Intronic Hemizygous Low DNA or FOG1 binding capacity Absent 2022 35846220   IV-6 (Individual 35) Family #40 Diamond-Blackfan anemia M 1 year Anemia, elevated GSH Large thrombocytes Neutrophil dysplasia Hypocellularity and erythroid hypoplasia   Ventricular septal defect
P122 c.871-24C>T p.= Intronic Hemizygous Low DNA or FOG1 binding capacity Absent 2022 35846220   IV-8 (Individual 36) Family #40 Diamond-Blackfan anemia M Birth Anemia, macrocytosis, elevated HbF Mild thrombocytopenia Lower gastrointestinal bleeding from ileocecal ulcer Hypocellularity with trilineage dysplasia   Hypospadias, cryptorchidism, Behcet's disease, HLH MUD-HSCT
P123 c.871-24C>T p.= Intronic Heterozygous Low DNA or FOG1 binding capacity Absent 2022 35846220   IV-7 Family #40 Asymptomatic F NA                    
P124 c.613G>A p.Val205Met Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2018 29949202   Patient 1 Family #41 Intrauterine demise at 36 weeks M Intrauterine Severe intrauterine anemia Massive fetal cerebral hemorrhage Normal Cardiomegaly Hypertrophic cardiomyopathy, bifid scrotum, hypospadias, increased multivisceral and placental hematopoiesis
P125 c.613G>A p.Val205Met Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2018 29949202   Patient 2 Family #41 Intrauterine demise at 37.5 weeks M Intrauterine Chronic fetal anemia         Hepatosplenomegaly Micropenis, major multivisceral hematopoiesis
P126 c.613G>A p.Val205Met Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2018 29949202   Patient 3 Family #41 Intrauterine demise at 12 weeks M Intrauterine                 Major multivisceral hematopoiesis, hepatic iron overload
P127 c.613G>A p.Val205Met Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2018 29949202   Mother of Patient 1 Family #41 Asymptomatic F Adult                    
P128 c.613G>A p.Val205Met Missense Heterozygous Low DNA or FOG1 binding capacity Absent 2018 29949202   Mother of Patients 2 and 3 Family #41 Asymptomatic F Adult                    
P129 c.220+1G>C p.? Splicing Hemizygous GATA1s produced only Absent 2023 36845397   5-year-old boy Family #42 PRCA, Diamond-Blackfan-like anemia M 3 years Macrocytic anemia, low reticulocyte count Erythroid aplasia Normal        
P130 c.622_623delinsTC p.Gly208Ser Missense Hemizygous Low DNA or FOG1 binding capacity Absent 2021 34390506   GATA1 patient Family #43 X-linked thrombocytopenia M 1 year   Thrombocytopenia, hypogranular platelets       Decreased p-selectin expression
P131 c.1240T>C p.Ter414Arg Stop loss Hemizygous Longer GATA1 protein Absent 2013 23278136 3739323 XS2 proband Family #44 X-linked thrombocytopenia M 67 years Lu(a-b-) red cells Macrothrombocytopenia Easy bruising            
P132 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2004 14691578   Propositus Family #45 X-linked thrombocytopenia with thalassemia M 1 year Microcytes-microspherocytes, reticulocytosis Macrothrombocytopenia Mucocutaneous bleeding Hypercellularity, dyserythropoiesis, increased megakaryocytes Prolonged bleeding time
P133 c.647G>A p.Arg216Gln Missense Heterozygous Low DNA or FOG1 binding capacity 0.00025% 2004 14691578   Mother of Propositus Family #45 Asymptomatic F Adult                    
P134 c.647G>A p.Arg216Gln Missense Heterozygous Low DNA or FOG1 binding capacity 0.00025% 2004 14691578   Sister of Propositus Family #45 Asymptomatic F NA                    
P135 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2015 25421114   Family A I:10 Family #46 X-linked thrombocytopenia with thalassemia M Adult Anemia, elevated HbF, microcytosis Macrothrombocytopenia   Grade I-II fibrosis       Only confirmed carriers included
P136 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2015 25421114   Family A III:1 Family #46 X-linked thrombocytopenia with thalassemia M Adult Anemia, elevated HbF, microcytosis Macrothrombocytopenia Heavy bleeding during a tooth extraction, easy bruising, bleeding gums, epistaxis, skin hematomas Grade I-II fibrosis Splenomegaly   Only confirmed carriers included
P137 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2015 25421114   Family B II:3 Family #47 X-linked thrombocytopenia with thalassemia M Adult Anemia Macrothrombocytopenia   Grade I-II fibrosis Splenomegaly   Prolonged bleeding time, only confirmed carriers included
P138 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2015 25421114   Family B III:1 Family #47 X-linked thrombocytopenia with thalassemia M Adult Microcytosis Macrothrombocytopenia   Grade I-II fibrosis Splenomegaly   Only confirmed carriers included
P139 c.647G>A p.Arg216Gln Missense Hemizygous Low DNA or FOG1 binding capacity 0.00025% 2015 25421114   Family B III:3 Family #47 X-linked thrombocytopenia with thalassemia M Adult Microcytosis Macrothrombocytopenia Thigh muscle bleeding Grade II fibrosis Splenomegaly   Only confirmed carriers included

ALL: acute lymphoblastic leukemia, AMKL: acute megakaryocytic leukemia, AML: acute myeloid leukemia, BM: bone marrow, eADA; erythrocyte adenosine deaminase, GSH: blood glutathione, HbA2: hemoglobin A2, HbF: fetal hemoglobin, HSCT: hematopoietic stem cell transplantation, Lu(a-b-): Lutheran blood group phenotype (a-b-), MDS: myelodysplastic syndrome, MPV: mean platelet volume, MUD: matched unrelated donor, PMF: primary myelofibrosis, PRCA: pure red cell aplasia, RBC: red blood cell, RDW: red blood cell distribution width, TAM: transient abnormal myelopoiesis, WBC: white blood cell