Cytopenia - NOT Fanconi anaemia
Gene: MPIG6B
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Thrombocytopenia, anemia, and myelofibrosis1, 617441
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 1:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
617441 Thrombocytopenia, anemia, and myelofibrosis
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Typically Thrombocytopenia, anemia and myelofibrosis (myelofibrosis is a distinct phenotype that is not targeted by this panel) - but one case of child presenting with pancytopenia; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 61744 ?Thrombocytopenia, anemia, and myelofibrosis1; PMID(s): none submittedCreated: 18 Feb 2019, 2:57 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617441 Thrombocytopenia, anemia, and myelofibrosis; PMID(s): 27743390Created: 8 Feb 2019, 1:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MPIG6B; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: ?Thrombocytopenia, anemia, and myelofibrosis, 617441; PMID(s): 27743390Created: 6 Feb 2019, 3:13 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 3:12 p.m.
Source Expert Review Red was added to MPIG6B. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Source Expert review Red was added to MPIG6B.
Source Yorkshire and North East GLH was added to MPIG6B.
Added phenotypes ?Thrombocytopenia, anemia, and myelofibrosis1, 617441 for gene: MPIG6B
Source North West GLH was added to MPIG6B.
Added phenotypes 617441 Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B
Source London South GLH was added to MPIG6B.
Source NHS GMS was added to MPIG6B.
Source Expert Review Amber was added to MPIG6B. Mode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B Publications for gene MPIG6B were changed from to 27743390 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: MPIG6B was added gene: MPIG6B was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MPIG6B was set to