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Bleeding and platelet disorders v0.52 | ITGA2 | Louise Daugherty edited their review of gene: ITGA2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.37 | ITGA2 | Louise Daugherty Classified gene: ITGA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.37 | ITGA2 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Red so was downgraded from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.37 | ITGA2 | Louise Daugherty Gene: itga2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | ITGA2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | ITGA2B | Louise Daugherty commented on gene: ITGA2B: 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: ITGA2B; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | ITGA2 | Louise Daugherty commented on gene: ITGA2: 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: ITGA2; 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: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.27 | ITGA2B | Steve Keeney reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.27 | ITGA2 | Steve Keeney reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.26 | ITGA2B | Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.26 | ITGA2 | Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.24 | ITGA2B | Louise Daugherty Source North West GLH was added to ITGA2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.24 | ITGA2 | Louise Daugherty Source North West GLH was added to ITGA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.23 | ITGA2B | Louise Daugherty commented on gene: ITGA2B: 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: ITGA2B; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant;273800 Glanzmann thrombasthenia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.23 | ITGA2 | Louise Daugherty commented on gene: ITGA2: 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: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.22 | ITGA2B | Mandy nesbitt reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.22 | ITGA2 | Mandy nesbitt reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.21 | ITGA2B | Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.21 | ITGA2 | Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.19 | ITGA2B | Louise Daugherty Source Yorkshire and North East GLH was added to ITGA2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.19 | ITGA2 | Louise Daugherty Source Yorkshire and North East GLH was added to ITGA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.14 | ITGA2B | Louise Daugherty commented on gene: ITGA2B: 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: ITGA2B; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.14 | ITGA2 | Louise Daugherty commented on gene: ITGA2: 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: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.10 | ITGA2B | Louise Daugherty commented on gene: ITGA2B: 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: ITGA2B; 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: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.10 | ITGA2 | Louise Daugherty commented on gene: ITGA2: 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: ITGA2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614200 ?Glycoprotein Ia deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.9 | ITGA2B | Michael Mitchell reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187800 Bleeding disorder, platelet-type, 16, autosomal dominant, 273800 Glanzmann thrombasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.9 | ITGA2 | Michael Mitchell reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 614200 ?Glycoprotein Ia deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.8 | ITGA2B | Louise Daugherty Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.8 | ITGA2 | Louise Daugherty Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.7 | ITGA2B | Louise Daugherty Source London South GLH was added to ITGA2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.7 | ITGA2 | Louise Daugherty Source London South GLH was added to ITGA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.6 | ITGA2B | Louise Daugherty reviewed gene: ITGA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.6 | ITGA2 | Louise Daugherty reviewed gene: ITGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.5 | ITGA2B | Carl Fratter reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.5 | ITGA2 | Carl Fratter reviewed gene: ITGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.4 | ITGA2B | Louise Daugherty Source NHS GMS was added to ITGA2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.4 | ITGA2 | Louise Daugherty Source NHS GMS was added to ITGA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.3 | ITGA2B |
Louise Daugherty Source Expert Review Green was added to ITGA2B. Mode of inheritance for gene ITGA2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 273800 Glanzmann thrombasthenia; 187800 Bleeding disorder, platelet-type, 16, autosomal dominant for gene: ITGA2B Publications for gene ITGA2B were changed from to 29675921; 25728920; 24498605 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Bleeding and platelet disorders v0.3 | ITGA2 |
Louise Daugherty Source Expert Review Green was added to ITGA2. Mode of inheritance for gene ITGA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 614200 ?Glycoprotein Ia deficiency for gene: ITGA2 Publications for gene ITGA2 were changed from to 10590055 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Bleeding and platelet disorders v0.2 | ITGA2B |
Louise Daugherty gene: ITGA2B was added gene: ITGA2B was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ITGA2B was set to |
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Bleeding and platelet disorders v0.2 | ITGA2 |
Louise Daugherty gene: ITGA2 was added gene: ITGA2 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ITGA2 was set to |