137
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Myeloid Neoplasms with Germline Predisposition (view source)
Revision as of 12:10, 19 January 2021
, 12:10, 19 January 2021→Additional Information
==Additional Information==
==Additional Information==
*''ANKRD26 (OMIM: [https://omim.org/entry/610855 610855])'' has been associated with thrombocytopenia 2 (OMIM: [https://www.omim.org/entry/188000 188000])
*ANKRD26 (OMIM: [https://omim.org/entry/610855 610855]) has been associated with thrombocytopenia 2 (OMIM: [https://www.omim.org/entry/188000 188000])
*''CEBPA (OMIM: [https://omim.org/entry/116897 116897])'' has been associated with acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626])
*CEBPA (OMIM: [https://omim.org/entry/116897 116897]) has been associated with acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626])
*''DDX41'' ''(OMIM: 608170)'' has been associated with susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (OMIM: [https://www.omim.org/entry/616871 616871])
*DDX41 (OMIM: 608170) has been associated with susceptibility to multiple types of familial myeloproliferative/lymphoproliferative neoplasms (OMIM: [https://www.omim.org/entry/616871 616871])
*''ETV6'' ''(OMIM: [https://omim.org/entry/600618 600618])'' has been associated with thrombocytopenia 5 (OMIM: [https://www.omim.org/entry/616216 616216])
*ETV6 (OMIM: [https://omim.org/entry/600618 600618]) has been associated with thrombocytopenia 5 (OMIM: [https://www.omim.org/entry/616216 616216])
*''GATA2 (OMIM: [https://omim.org/entry/137295 137295])'' has been associated with susceptibility to acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626])
*GATA2 (OMIM: [https://omim.org/entry/137295 137295]) has been associated with susceptibility to acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626])
*''RUNX1'' ''(OMIM: [https://omim.org/entry/151385 151385])'' has been associated with acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626]) and familial platelet disorder with associated myeloid malignancy (OMIM: [https://www.omim.org/entry/601399 601399])
*RUNX1 (OMIM: [https://omim.org/entry/151385 151385]) has been associated with acute myeloid leukemia (OMIM: [https://www.omim.org/entry/601626 601626]) and familial platelet disorder with associated myeloid malignancy (OMIM: [https://www.omim.org/entry/601399 601399])
*''SAMD9'' ''(OMIM: [https://omim.org/entry/610456 610456])'' has been associated with Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy (MIRAGE syndrome, (OMIM: [https://www.omim.org/entry/617053 617053])
*SAMD9 (OMIM: [https://omim.org/entry/610456 610456]) has been associated with Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy (MIRAGE syndrome, (OMIM: [https://www.omim.org/entry/617053 617053])
*''SAMD9L'' ''(OMIM: [https://omim.org/entry/611170 611170])'' has been associated with ataxia-pancytopenia syndrome, or myelocerebellar disorder, ataxia-pancytopenia syndrome (OMIM: [https://www.omim.org/entry/159550 159550])
*SAMD9L (OMIM: [https://omim.org/entry/611170 611170]) has been associated with ataxia-pancytopenia syndrome, or myelocerebellar disorder, ataxia-pancytopenia syndrome (OMIM: [https://www.omim.org/entry/159550 159550])
*''SRP72'' ''(OMIM: [https://omim.org/entry/602122 602122])'' has been associated with bone marrow failure syndrome 1 (OMIM: [https://www.omim.org/entry/614675 614675])
*SRP72 (OMIM: [https://omim.org/entry/602122 602122]) has been associated with bone marrow failure syndrome 1 (OMIM: [https://www.omim.org/entry/614675 614675])
*''TP53'' ''(OMIM: [https://omim.org/entry/191170 191170])'' has been associated with Li-Fraumeni syndrome (OMIM: [https://www.omim.org/entry/151623 151623])
*TP53 (OMIM: [https://omim.org/entry/191170 191170]) has been associated with Li-Fraumeni syndrome (OMIM: [https://www.omim.org/entry/151623 151623])
*''BLM'' ''(OMIM: [https://omim.org/entry/604610 604610])'' has been associated with Bloom syndrome (OMIM: [https://www.omim.org/entry/210900 210900])
*BLM (OMIM: [https://omim.org/entry/604610 604610]) has been associated with Bloom syndrome (OMIM: [https://www.omim.org/entry/210900 210900])
*Constitutional mismatch repair deficiency (OMIM: [https://www.omim.org/entry/276300 276300])
*Constitutional mismatch repair deficiency (OMIM: [https://www.omim.org/entry/276300 276300])
*Neurofibromatosis type I (NF1, OMIM: [https://www.omim.org/entry/162200 162200])
*Neurofibromatosis type I (NF1, OMIM: [https://www.omim.org/entry/162200 162200])
*Dyskeratosis congenital (DC, please see Genetic heterogeneity of dyskeratosis congenital at OMIM: [https://www.omim.org/entry/127550 127550])
*Dyskeratosis congenital (DC, please see Genetic heterogeneity of dyskeratosis congenital at OMIM: [https://www.omim.org/entry/127550 127550])
*Severe congenital neutropenia (SCN, please see Genetic heterogeneity of severe congenital neutropenia at OMIM; [https://www.omim.org/entry/202700 202700])
*Severe congenital neutropenia (SCN, please see Genetic heterogeneity of severe congenital neutropenia at OMIM; [https://www.omim.org/entry/202700 202700])
*Shwachman-Diamond syndrome 1 (SDS1, OMIM: 260400) , <nowiki>https://www.omim.org/entry/260400</nowiki>) and Shwachman-Diamond syndrome 2 (SDS2, OMIM: [https://www.omim.org/entry/617941 617941])
*Shwachman-Diamond syndrome 1 (SDS1, OMIM: [https://www.omim.org/entry/260400 260400]) and Shwachman-Diamond syndrome 2 (SDS2, OMIM: [https://www.omim.org/entry/617941 617941])
*Diamond Blackfan anemia (DBA, please see Genetic heterogeneity of Diamond Blackfan anemia at OMIM: [https://www.omim.org/entry/105650 105650])
*Diamond Blackfan anemia (DBA, please see Genetic heterogeneity of Diamond Blackfan anemia at OMIM: [https://www.omim.org/entry/105650 105650])