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| Cytopenia - NOT Fanconi anaemia v0.11 | MASTL | Louise Daugherty commented on gene: MASTL: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: MASTL; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thrombocytopenia; PMID(s): 10891439; 22102272; 26136524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | MASTL | Frances Smith reviewed gene: MASTL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thrombocytopenia; Mode of inheritance: Unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | MASTL |
Louise Daugherty Added phenotypes Thrombocytopenia for gene: MASTL Publications for gene MASTL were changed from 12890928; 26136524; 21211618 to 10891439; 26136524; 22102272 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | MASTL | Louise Daugherty Source London South GLH was added to MASTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | MASTL | Louise Daugherty reviewed gene: MASTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | MASTL | Carl Fratter reviewed gene: MASTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | MASTL | Louise Daugherty Source NHS GMS was added to MASTL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | MASTL |
Louise Daugherty Source Expert Review Amber was added to MASTL. Mode of inheritance for gene MASTL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes severe aplastic anemia; Thrombocytopenia for gene: MASTL Publications for gene MASTL were changed from to 12890928; 26136524; 21211618 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | MASTL |
Louise Daugherty gene: MASTL was added gene: MASTL was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: MASTL was set to |
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