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Bleeding and platelet disorders v2.3 F12 Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green, and the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Green, and the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.

GMS reviewers note that defects in F12 are associated with prolonged APTT; therefore, this should remain a green gene in the R90 panel. It should be left on the panel as may explain prolonged aPTT if not bleeding, so potentially still useful in the diagnostic pathway. As with most genes encoding coagulation factors, both monoallelic and biallelic F7 variants can be clinically significant.
Bleeding and platelet disorders v2.3 F12 Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: F12.
Tag Q2_22_MOI was removed from gene: F12.
Tag Q2_22_phenotype was removed from gene: F12.
Tag Q2_22_expert_review was removed from gene: F12.
Bleeding and platelet disorders v2.3 F12 Achchuthan Shanmugasundram reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v1.44 F12 Eleanor Williams commented on gene: F12
Bleeding and platelet disorders v1.44 F12 Eleanor Williams Tag Q2_22_rating tag was added to gene: F12.
Bleeding and platelet disorders v1.37 F12 Arina Puzriakova Phenotypes for gene: F12 were changed from 234000 Factor XII deficiency; 234000 Factor XII deficiency, hereditary Angioedema type III; 610618 Hereditary Angioedema type III to Angioedema, hereditary, type III, OMIM:610618; Factor XII deficiency, OMIM:234000
Bleeding and platelet disorders v1.36 F12 Arina Puzriakova Tag Q2_22_MOI tag was added to gene: F12.
Tag Q2_22_phenotype tag was added to gene: F12.
Tag Q2_22_expert_review tag was added to gene: F12.
Bleeding and platelet disorders v1.36 F12 Arina Puzriakova changed review comment from: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only or should be demoted on this panel altogether.

Monoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.; to: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only or whether this gene should be demoted on this panel altogether.

Monoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.
Bleeding and platelet disorders v1.36 F12 Arina Puzriakova changed review comment from: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only.

Monoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.; to: This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only or should be demoted on this panel altogether.

Monoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling, abdominal pain attacks, and episodes of upper airway obstruction but otherwise patients do not display any strong evidence of abnormal bleeding or clotting phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation which in some cases has been linked to thrombus formation.
Bleeding and platelet disorders v1.35 F12 Arina Puzriakova commented on gene: F12
Bleeding and platelet disorders v1.6 F12 Zornitza Stark reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor XII deficiency, MIM# 234000; Mode of inheritance: None
Bleeding and platelet disorders v0.28 F12 Louise Daugherty Deleted their comment
Bleeding and platelet disorders v0.28 F12 Louise Daugherty commented on gene: F12: 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: F12; 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: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.27 F12 Steve Keeney reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bleeding and platelet disorders v0.26 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.24 F12 Louise Daugherty Source North West GLH was added to F12.
Bleeding and platelet disorders v0.23 F12 Louise Daugherty commented on gene: F12: 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: F12; Suggested intial 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.22 F12 Mandy nesbitt reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Bleeding and platelet disorders v0.21 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.19 F12 Louise Daugherty Source Yorkshire and North East GLH was added to F12.
Bleeding and platelet disorders v0.14 F12 Louise Daugherty commented on gene: F12: 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: F12; 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.10 F12 Louise Daugherty commented on gene: F12: 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: F12; 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; PMID(s): none submitted
Bleeding and platelet disorders v0.9 F12 Michael Mitchell reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 234000 Factor XII deficiency, hereditary Angioedema type III; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bleeding and platelet disorders v0.8 F12 Louise Daugherty Added phenotypes 234000 Factor XII deficiency, hereditary Angioedema type III for gene: F12
Bleeding and platelet disorders v0.7 F12 Louise Daugherty Source London South GLH was added to F12.
Bleeding and platelet disorders v0.6 F12 Louise Daugherty reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bleeding and platelet disorders v0.5 F12 Carl Fratter reviewed gene: F12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Bleeding and platelet disorders v0.4 F12 Louise Daugherty Source NHS GMS was added to F12.
Bleeding and platelet disorders v0.3 F12 Louise Daugherty Source Expert Review Green was added to F12.
Mode of inheritance for gene F12 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes 234000 Factor XII deficiency; 610618 Hereditary Angioedema type III for gene: F12
Publications for gene F12 were changed from to 9354665; 20386432; 27003566
Rating Changed from Red List (low evidence) to Green List (high evidence)
Bleeding and platelet disorders v0.2 F12 Louise Daugherty gene: F12 was added
gene: F12 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: F12 was set to