Cytopenias and congenital anaemiasGene: MPIG6B
New gene name tag: This gene is known as G6B in the publication reporting association with thrombocytopenia, anemia, and myelofibrosis.
The HGNC name is MPIG6B.
Comment from publication PMID 27743390: c.324C>A, p.C108* in 4 sibs of consanguineous Arab parents, with thrombocytopenia, anemia, and myelofibrosis. Not found in public databases. In vitro functional expression studies in K562 human chronic myelogenous leukemia cells showed variant protein was unstable and unable to enhance K562 differentiation into megakaryocytes and erythrocytes following stimulation.
Created: 2 May 2017, 2:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Thrombocytopenia, anemia, and myelofibrosis 617441
C6orf25 was changed to MPIG6B
new-gene-name was removed from C6orf25. Panel: Cytopaenias and congenital anaemias
C6orf25 was created by sleigh
C6orf25 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature