Cytopenias and congenital anaemias
Gene: MPIG6B
MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)
EnsemblGeneIds (GRCh38): ENSG00000204420
EnsemblGeneIds (GRCh37): ENSG00000204420
OMIM: 606520, Gene2Phenotype
MPIG6B is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000204420
EnsemblGeneIds (GRCh37): ENSG00000204420
OMIM: 606520, Gene2Phenotype
MPIG6B is in 4 panels
1 review
Sarah Leigh (Genomics England Curator)
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
Phenotypes
?Thrombocytopenia, anemia, and myelofibrosis 617441
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- ?Thrombocytopenia, anemia, and myelofibrosis 617441
- OMIM
- 606520
- Clinvar variants
- Variants in MPIG6B
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
5 Nov 2017, Gel status: 1
Changed Gene Name
GEL ()C6orf25 was changed to MPIG6B
5 Nov 2017, Gel status: 1
Removed Tag
GEL ()new-gene-name was removed from C6orf25. Panel: Cytopaenias and congenital anaemias
2 May 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)C6orf25 was created by sleigh
2 May 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)C6orf25 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature