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Cytopenia - NOT Fanconi anaemia v0.135 | ETV6 | Louise Daugherty edited their review of gene: ETV6: Added comment: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there is enough evidence to rate this gene Green. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Thrombocytopenia and susceptibility to cancer; North West GLH: no comment submitted; Yorkshire and North East GLH:mainly somatic AML and some thrombocytopenia; London South GLH: no comment submitted.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.134 | ETV6 | Louise Daugherty Source Expert review Green was added to ETV6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.132 | ETV6 |
Louise Daugherty Source Wessex and West Midlands GLH was added to ETV6. Source North West GLH was added to ETV6. |
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Cytopenia - NOT Fanconi anaemia v0.82 | ETV6 | Louise Daugherty Classified gene: ETV6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.82 | ETV6 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.82 | ETV6 | Louise Daugherty Gene: etv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.18 | ETV6 | Louise Daugherty commented on gene: ETV6: 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: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616216 Thrombocytopenia 5; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.17 | ETV6 | Mandy nesbitt reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.16 | ETV6 | Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.14 | ETV6 | Louise Daugherty Source Yorkshire and North East GLH was added to ETV6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.13 | ETV6 |
Louise Daugherty Source Expert Review Green was added to ETV6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Cytopenia - NOT Fanconi anaemia v0.12 | ETV6 |
Louise Daugherty Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6 |
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Cytopenia - NOT Fanconi anaemia v0.11 | ETV6 | Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.10 | ETV6 | Frances Smith reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616216 Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.9 | ETV6 |
Louise Daugherty Added phenotypes 616216 Thrombocytopenia 5 for gene: ETV6 Publications for gene ETV6 were changed from to 25581430; 25807284 |
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Cytopenia - NOT Fanconi anaemia v0.8 | ETV6 | Louise Daugherty Source NHS GMS was added to ETV6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.7 | ETV6 |
Louise Daugherty gene: ETV6 was added gene: ETV6 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: ETV6 was set to |