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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