Cytopenia - NOT Fanconi anaemia
Gene: USB1
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
Poikiloderma with neutropenia, 604173; Dyskeratosis congenita
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
604173 Poikiloderma with neutropenia
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
604173 Poikiloderma with neutropenia
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Upgraded from Amber to Green. 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, 12:43 p.m. | Last Modified: 22 Jul 2019, 12:43 p.m.
Panel Version: 0.71
Discrepant reviews for USB. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree ratingCreated: 22 Jul 2019, 12:43 p.m. | Last Modified: 22 Jul 2019, 12:43 p.m.
Panel Version: 0.70
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: USB1; 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: Poikiloderma with neutropenia 604173;Dyskeratosis congenita; PMID(s): none submittedCreated: 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: USB1; 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: 604173 Poikiloderma with neutropenia; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 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: USB1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 604173 Poikiloderma with neutropenia; PMID(s): 20004881; 20503306Created: 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: USB1; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: not submitted ; Phenotypes: Poikiloderma with neutropenia, 604173;Dyskeratosis congenita; PMID(s): none submittedCreated: 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.
Mode of inheritance for gene: USB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: usb1 has been classified as Green List (High Evidence).
Added phenotypes Poikiloderma with neutropenia, 604173; Dyskeratosis congenita for gene: USB1
Source North West GLH was added to USB1.
Added phenotypes 604173 Poikiloderma with neutropenia for gene: USB1
Source Yorkshire and North East GLH was added to USB1.
Added phenotypes 604173 Poikiloderma with neutropenia for gene: USB1 Publications for gene USB1 were changed from to 20503306; 20004881
Source London South GLH was added to USB1.
Source NHS GMS was added to USB1.
Source Expert Review Amber was added to USB1. Added phenotypes Poikiloderma with neutropenia, 604173; Dyskeratosis congenita for gene: USB1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: USB1 was added gene: USB1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: USB1 was set to