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Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss of function variants in NBEAL2, a member of the family of BEACH genes, are causal of GPS. The gene is involved in fusion, fission and t...
ORGANISM(S): Homo sapiens (Human) 
2021-01-28 | PXD017784 | Pride
Severe congenital neutropenia (SCN) is a rare disorder characterized by a maturation arrest of myeloid progenitor cells in the bone marrow and severe reduction in the amount of circulating neutrophils. Loss-of-function mutations in the CSF3R (the gene encoding the granulocyte colony-stimulating fact...
ORGANISM(S): Homo sapiens (Human) 
2020-09-25 | PXD018178 | Pride
Megakaryoblastic leukemia 1 (MKL1) promotes the regulation of essential cell processes, including actin cytoskeletal dynamics by co-activating serum response factor. Recently, the first human case with MKL1 deficiency has been identified, leading to a novel primary immunodeficiency. We report a seco...
ORGANISM(S): Homo sapiens (Human) 
2025-09-30 | PXD014633 | Pride
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