Inherited bleeding disordersGene: MPIG6B
Source: BRIDGE Study Tier 1 Gene and Expert Review Green gene
Created: 9 Aug 2017, 1:50 p.m.
Comment on phenotypes: added phenotype from expert review
Created: 9 Aug 2017, 1:09 p.m.
Comment on publications: added publication to support phenotype
Created: 9 Aug 2017, 1:08 p.m.
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:06 p.m.
New approved gene symbol is MPIG6B
Created: 24 Mar 2017, 12:46 p.m.
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Platelet disorder; Thrombocytopenia, anemia, and myelofibrosis
Variants in this GENE are reported as part of current diagnostic practice
C6orf25 was changed to MPIG6B
new-gene-name was removed from C6orf25. Panel: Inherited bleeding disorders
Phenotypes for C6orf25 were set to Platelet disorder; Thrombocytopenia, anemia, and myelofibrosis
Publications for C6orf25 were set to 27743390;23112346
Mode of inheritance for C6orf25 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Revised 19 December 2016
C6orf25 was added to Inherited bleeding disorderspanel. Sources: Other
C6orf25All sources for gene: C6orf25 were removed
C6orf25 was created by ellenmcdonagh
C6orf25 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene