Cytopenia - NOT Fanconi anaemia
Gene: FYB1
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 3, 273900
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: Thrombocytopenia 3; North West GLH: no comment submitted; Yorkshire and North East GLH: Rare (2cases); 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
Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.Created: 22 Jul 2019, 11:49 a.m. | Last Modified: 22 Jul 2019, 11:49 a.m.
Panel Version: 0.62
Discrepant reviews for FYB1. Rated as Green by YNEGLH, LSGLH - Amber rating by NWGLH, no review by WWMGLH. To be discussed at July workshop to agree rating.Created: 22 Jul 2019, 11:48 a.m. | Last Modified: 22 Jul 2019, 11:48 a.m.
Panel Version: 0.61
New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green.Created: 4 May 2019, 8:55 p.m.
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: FYB1; 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: 273900 Thrombocytopenia 3; PMID(s): 25876182; 25516138Created: 18 Feb 2019, 2:57 p.m.
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: FYB1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 273900 Thrombocytopenia 3; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 p.m.
Gene rating submitted 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.Created: 14 Feb 2019, 5:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
273900 Thrombocytopenia 3
Source Expert review Green was added to FYB1.
Source Wessex and West Midlands GLH was added to FYB1.
Gene: fyb1 has been classified as Green List (High Evidence).
Source London South GLH was added to FYB1.
Added phenotypes Thrombocytopenia 3, 273900 for gene: FYB1 Publications for gene FYB1 were changed from to 25516138; 25876182
Source North West GLH was added to FYB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for gene: FYB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: fyb1 has been classified as Green List (High Evidence).
Added phenotypes 273900 Thrombocytopenia 3 for gene: FYB1
Source NHS GMS was added to FYB1.
gene: FYB1 was added gene: FYB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: FYB1 was set to