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| Bleeding and platelet disorders v0.38 | KDSR | Louise Daugherty commented on gene: KDSR: Note: this is associated to a clinically recognised phenotype characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.38 | KDSR | Louise Daugherty Classified gene: KDSR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.38 | KDSR | 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 there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.38 | KDSR | Louise Daugherty Gene: kdsr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | KDSR | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.28 | KDSR | Louise Daugherty commented on gene: KDSR: 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: KDSR; 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: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.27 | KDSR | Steve Keeney reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.26 | KDSR | Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.24 | KDSR | Louise Daugherty Source North West GLH was added to KDSR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.23 | KDSR | Louise Daugherty commented on gene: KDSR: 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: KDSR; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.22 | KDSR | Mandy nesbitt reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.21 | KDSR | Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.19 | KDSR | Louise Daugherty Source Yorkshire and North East GLH was added to KDSR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.14 | KDSR | Louise Daugherty commented on gene: KDSR: 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: KDSR; Suggested intial 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: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.10 | KDSR | Louise Daugherty commented on gene: KDSR: 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: KDSR; Suggested intial 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: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.9 | KDSR | Michael Mitchell reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.8 | KDSR | Louise Daugherty Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.7 | KDSR | Louise Daugherty Source London South GLH was added to KDSR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.6 | KDSR | Louise Daugherty reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.5 | KDSR | Carl Fratter reviewed gene: KDSR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.4 | KDSR | Louise Daugherty Source NHS GMS was added to KDSR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v0.3 | KDSR |
Louise Daugherty Source Expert Review Green was added to KDSR. Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes (NO OMIM NUMBER OR DISEASE); Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR Publications for gene KDSR were changed from to 30467204 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Bleeding and platelet disorders v0.2 | KDSR |
Louise Daugherty gene: KDSR was added gene: KDSR was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KDSR was set to |
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