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Bleeding and platelet disorders v3.3 | ADAMTS13 | Sarah Leigh Tag Q4_23_NHS_review tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v3.3 | ADAMTS13 | Sarah Leigh Tag Q4_23_promote_green tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v3.3 | ADAMTS13 | Sarah Leigh Classified gene: ADAMTS13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v3.3 | ADAMTS13 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v3.3 | ADAMTS13 | Sarah Leigh Gene: adamts13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v3.2 | ADAMTS13 | Sarah Leigh reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v3.2 | ADAMTS13 | Carl Fratter edited their review of gene: ADAMTS13: Added comment: Consensus opinion from the Central & South and South West haemostasis genomics MDT is that ADAMTS13 should be classified as a green gene on the R90 (bleeding and platelet disorders) panel. Laboratory findings in patients with congenital TTP include thrombocytopenia and this is not always readily distinguishable from other causes of thrombocytopenia.; Changed phenotypes to: 274150 Thrombotic thrombocytopenic purpura, hereditary; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.35 | ADAMTS13 |
Arina Puzriakova Tag Q2_21_expert_review was removed from gene: ADAMTS13. Tag Q2_21_NHS_review was removed from gene: ADAMTS13. Tag Q2_21_MOI was removed from gene: ADAMTS13. |
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Bleeding and platelet disorders v1.35 | ADAMTS13 | Arina Puzriakova edited their review of gene: ADAMTS13: Added comment: The rating and mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.34 | ADAMTS13 |
Arina Puzriakova Source Expert Review Red was added to ADAMTS13. Mode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Bleeding and platelet disorders v1.26 | ADAMTS13 | Arina Puzriakova changed review comment from: This gene will be flagged for review at the next GMS panel update to highlight the recent review by Kate Downes (CUH) indicating that the phenotype associated with ADAMTS13 (MIM# 274150) may be out of scope for this panel (tagged Q2_21_rating); to: This gene will be flagged for review at the next GMS panel update to highlight the recent review by Kate Downes (CUH) indicating that the phenotype associated with ADAMTS13 (MIM# 274150) may be out of scope for this panel (tagged Q2_21_expert_review) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.26 | ADAMTS13 | Arina Puzriakova Tag Q2_21_rating was removed from gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.26 | ADAMTS13 | Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.26 | ADAMTS13 | Arina Puzriakova commented on gene: ADAMTS13: This gene will be flagged for review at the next GMS panel update to highlight the recent review by Kate Downes (CUH) indicating that the phenotype associated with ADAMTS13 (MIM# 274150) may be out of scope for this panel (tagged Q2_21_rating) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.26 | ADAMTS13 |
Arina Puzriakova Tag Q2_21_rating tag was added to gene: ADAMTS13. Tag Q2_21_NHS_review tag was added to gene: ADAMTS13. |
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Bleeding and platelet disorders v1.26 | ADAMTS13 | Kate Downes reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: ; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.23 | ADAMTS13 | Arina Puzriakova Publications for gene: ADAMTS13 were set to 15009458; 11586351; 12753286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.22 | ADAMTS13 | Arina Puzriakova changed review comment from: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.; to: Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.22 | ADAMTS13 | Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.22 | ADAMTS13 | Arina Puzriakova Added comment: Comment on mode of inheritance: Add MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.22 | ADAMTS13 | Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v1.21 | ADAMTS13 | Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | ADAMTS13 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.28 | ADAMTS13 | Louise Daugherty commented on gene: ADAMTS13: 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: ADAMTS13; 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: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.27 | ADAMTS13 | Steve Keeney reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.26 | ADAMTS13 | Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.24 | ADAMTS13 | Louise Daugherty Source North West GLH was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.23 | ADAMTS13 | Louise Daugherty commented on gene: ADAMTS13: 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: ADAMTS13; 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: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.22 | ADAMTS13 | Mandy nesbitt reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.21 | ADAMTS13 | Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.19 | ADAMTS13 | Louise Daugherty Source Yorkshire and North East GLH was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.14 | ADAMTS13 | Louise Daugherty commented on gene: ADAMTS13: 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: ADAMTS13; 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: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.10 | ADAMTS13 | Louise Daugherty commented on gene: ADAMTS13: 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: ADAMTS13; 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: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.9 | ADAMTS13 | Michael Mitchell reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.8 | ADAMTS13 | Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.7 | ADAMTS13 | Louise Daugherty Source London South GLH was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.6 | ADAMTS13 | Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.5 | ADAMTS13 | Carl Fratter reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.4 | ADAMTS13 | Louise Daugherty Source NHS GMS was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bleeding and platelet disorders v0.3 | ADAMTS13 |
Louise Daugherty Source Expert Review Green was added to ADAMTS13. Mode of inheritance for gene ADAMTS13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 Publications for gene ADAMTS13 were changed from to 15009458; 11586351; 12753286 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Bleeding and platelet disorders v0.2 | ADAMTS13 |
Louise Daugherty gene: ADAMTS13 was added gene: ADAMTS13 was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ADAMTS13 was set to |