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| Cytopenia - NOT Fanconi anaemia v0.136 | MPIG6B |
Louise Daugherty Source Expert Review Red was added to MPIG6B. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.135 | MPIG6B | Louise Daugherty edited their review of gene: MPIG6B: Added comment: 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.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | MPIG6B | Louise Daugherty Source Expert review Red was added to MPIG6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.132 | MPIG6B | Louise Daugherty Source Yorkshire and North East GLH was added to MPIG6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | MPIG6B | Louise Daugherty commented on gene: MPIG6B: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | MPIG6B | Steve Keeney reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Thrombocytopenia, anemia, and myelofibrosis1, 617441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | MPIG6B | Louise Daugherty Added phenotypes ?Thrombocytopenia, anemia, and myelofibrosis1, 617441 for gene: MPIG6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | MPIG6B | Louise Daugherty Source North West GLH was added to MPIG6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | MPIG6B | Louise Daugherty commented on gene: MPIG6B: 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): 27743390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | MPIG6B | Frances Smith reviewed gene: MPIG6B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 617441 Thrombocytopenia, anemia, and myelofibrosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | MPIG6B | Louise Daugherty Added phenotypes 617441 Thrombocytopenia, anemia, and myelofibrosis for gene: MPIG6B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | MPIG6B | Louise Daugherty Source London South GLH was added to MPIG6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | MPIG6B | Louise Daugherty reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | MPIG6B | Carl Fratter reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | MPIG6B | Louise Daugherty Source NHS GMS was added to MPIG6B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | MPIG6B |
Louise Daugherty 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) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | MPIG6B |
Louise Daugherty 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 |
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