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| Cytopenia - NOT Fanconi anaemia v0.135 | GFI1 | Louise Daugherty edited their review of gene: GFI1: 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 agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Platelet type bleeding disorder 17; Severe congenital neutropenia 2; North West GLH: no comment submitted; Yorkshire and North East GLH: only 2 changes on HGMD neutropenia; London South GLH: no comment submitted. ; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | GFI1 | Louise Daugherty Source Expert review Green was added to GFI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.52 | GFI1 | Louise Daugherty commented on gene: GFI1: Review/rating updated by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) from initial review February 2019, on behalf of London South GLH for the GMS Haematology specialist test group. Gene rating upgraded from Red to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.51 | GFI1 | Frances Smith edited their review of gene: GFI1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | GFI1 | Louise Daugherty commented on gene: GFI1: 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: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia;Severe congenital neutropenic;Neutropenia, Severe Congenital, 2 Autosomal Dominant; Neutropenia, Nonimmune Chronic Idiopathic, Of Adults;Neutropenia, severe congenital 2, autosomal dominant, 613107; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | GFI1 | Steve Keeney reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes - Neutropenia, Severe congenital neutropenic, Neutropenia, Severe Congenital, 2 Autosomal Dominant, Neutropenia, Nonimmune Chronic Idiopathic, Of Adults, Neutropenia, severe congenital 2, autosomal dominant, 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | GFI1 | Louise Daugherty Added phenotypes Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, Severe Congenital, 2 Autosomal Dominant; Severe congenital neutropenic; Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | GFI1 | Louise Daugherty Source North West GLH was added to GFI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | GFI1 | Louise Daugherty commented on gene: GFI1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GFI1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | GFI1 | Mandy nesbitt reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | GFI1 | Louise Daugherty Added phenotypes 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults for gene: GFI1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | GFI1 | Louise Daugherty Source Yorkshire and North East GLH was added to GFI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | GFI1 | Louise Daugherty commented on gene: GFI1: 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: GFI1; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613107 Neutropenia, severe congenital 2; PMID(s): 12778173 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | GFI1 | Frances Smith reviewed gene: GFI1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 613107 Neutropenia, severe congenital 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | GFI1 |
Louise Daugherty Added phenotypes 613107 Neutropenia, severe congenital 2 for gene: GFI1 Publications for gene GFI1 were changed from 12530980; 12778173; 11810106; 19775295 to 12778173 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | GFI1 | Louise Daugherty Source London South GLH was added to GFI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | GFI1 | Louise Daugherty reviewed gene: GFI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | GFI1 | Carl Fratter reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | GFI1 | Louise Daugherty Source NHS GMS was added to GFI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | GFI1 |
Louise Daugherty Source Expert Review Green was added to GFI1. Mode of inheritance for gene GFI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Neutropenia, Nonimmune Chronic Idiopathic, Of Adults; Inherited Bone Marrow Failure Syndromes - Neutropenia; Neutropenia, Severe Congenital, 2 Autosomal Dominant; Severe congenital neutropenic; Neutropenia, severe congenital 2, autosomal dominant, 613107 for gene: GFI1 Publications for gene GFI1 were changed from to 12530980; 12778173; 11810106; 19775295 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | GFI1 |
Louise Daugherty gene: GFI1 was added gene: GFI1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GFI1 was set to |
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