Inherited bleeding disorders

Gene: MPIG6B

Green List (high evidence)

MPIG6B (megakaryocyte and platelet inhibitory receptor G6b)
EnsemblGeneIds (GRCh38): ENSG00000204420
EnsemblGeneIds (GRCh37): ENSG00000204420
OMIM: 606520, Gene2Phenotype
MPIG6B is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Platelet disorder; Thrombocytopenia, anemia, and myelofibrosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Platelet disorder
  • Thrombocytopenia, anemia, and myelofibrosis
OMIM
606520
Clinvar variants
Variants in MPIG6B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

C6orf25 was changed to MPIG6B

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from C6orf25. Panel: Inherited bleeding disorders

9 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for C6orf25 were set to Platelet disorder; Thrombocytopenia, anemia, and myelofibrosis

9 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for C6orf25 were set to 27743390;23112346

9 Aug 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for C6orf25 was changed to BIALLELIC, autosomal or pseudoautosomal

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

C6orf25 was added to Inherited bleeding disorderspanel. Sources: Other

19 Dec 2016, Gel status: 0

clearsources

Louise Daugherty (Genomics England Curator)

C6orf25All sources for gene: C6orf25 were removed

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

C6orf25 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

C6orf25 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene