| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Thrombophilia with a likely monogenic cause v1.22 | ADAMTS13 |
Arina Puzriakova Tag Q2_21_NHS_review was removed from gene: ADAMTS13. Tag Q2_21_MOI was removed from gene: ADAMTS13. |
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| Thrombophilia with a likely monogenic cause v1.22 | ADAMTS13 | Arina Puzriakova commented on gene: ADAMTS13: The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.21 | ADAMTS13 | Arina Puzriakova Mode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.19 | ADAMTS13 | Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.19 | ADAMTS13 | Kate Downes reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.6 | ADAMTS13 | Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.6 | ADAMTS13 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.6 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.5 | ADAMTS13 | Arina Puzriakova Tag Q2_21_MOI was removed from gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.5 | ADAMTS13 | Arina Puzriakova Tag Q2_21_MOI tag was added to gene: ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v1.5 | ADAMTS13 | Arina Puzriakova Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.34 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.33 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.32 | ADAMTS13 | Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.30 | ADAMTS13 | Louise Daugherty Source North West GLH was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.29 | 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: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.28 | ADAMTS13 | Mandy nesbitt 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.27 | ADAMTS13 | Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.25 | ADAMTS13 | Louise Daugherty Source Yorkshire and North East GLH was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.12 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.11 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.10 | ADAMTS13 | Louise Daugherty Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.8 | ADAMTS13 | Louise Daugherty Source London South GLH was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.7 | ADAMTS13 | Louise Daugherty Source Wessex and West Midlands GLH was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.6 | ADAMTS13 | Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.5 | ADAMTS13 | Carl Fratter reviewed gene: ADAMTS13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.4 | ADAMTS13 | Louise Daugherty Source NHS GMS was added to ADAMTS13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Thrombophilia with a likely monogenic cause v0.3 | ADAMTS13 |
Louise Daugherty gene: ADAMTS13 was added gene: ADAMTS13 was added to Thrombophilia. Sources: Expert Review Green Mode of inheritance for gene: ADAMTS13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to 274150 Thrombotic thrombocytopenic purpura, familial |
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