Bleeding and platelet disorders
Gene: GP1BB
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 groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
231200 BERNARD-SOULIER SYNDROME; BSS
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: 13 Feb 2019, 11:32 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
231200BERNARD-SOULIER SYNDROME
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 1:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
231200.BERNARD-SOULIER SYNDROME; BSS
Variants in this GENE are reported as part of current diagnostic practice
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: GP1BB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submittedCreated: 18 Feb 2019, 11:28 a.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: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME; PMID(s): none submittedCreated: 13 Feb 2019, 11:34 a.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GP1BB; 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: 231200.BERNARD-SOULIER SYNDROME; BSS; PMID(s): none submittedCreated: 7 Feb 2019, 1:28 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: GP1BB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 231200BERNARD-SOULIER SYNDROME; BSS; PMID(s): 9616133; 21357716 ; 24934643Created: 5 Feb 2019, 1:26 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: 5 Feb 2019, 11:19 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: GP1BB were set to 24934643; 9616133; 21357716
Phenotypes for gene: GP1BB were changed from BSS; 231200 BERNARD-SOULIER SYNDROME; 231200BERNARD-SOULIER SYNDROME to Bernard-Soulier syndrome, type B, OMIM:231200; Giant platelet disorder, isolated, OMIM:231200; Macrothrombocytopenia
Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
Source North West GLH was added to GP1BB.
Added phenotypes 231200BERNARD-SOULIER SYNDROME for gene: GP1BB
Source Yorkshire and North East GLH was added to GP1BB.
Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB
Source London South GLH was added to GP1BB.
Source NHS GMS was added to GP1BB.
Source Expert Review Green was added to GP1BB. Mode of inheritance for gene GP1BB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes BSS; 231200 BERNARD-SOULIER SYNDROME for gene: GP1BB Publications for gene GP1BB were changed from to 24934643; 9616133; 21357716 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: GP1BB was added gene: GP1BB was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GP1BB was set to