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| Inherited predisposition to acute myeloid leukaemia (AML) v0.20 | CHEK2 | Louise Daugherty Classified gene: CHEK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.20 | CHEK2 | 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 this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.20 | CHEK2 | Louise Daugherty Gene: chek2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.19 | CHEK2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.18 | CHEK2 | Louise Daugherty Classified gene: CHEK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.18 | CHEK2 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.18 | CHEK2 | Louise Daugherty Gene: chek2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | CHEK2 | Paula Page reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | CHEK2 | Louise Daugherty commented on gene: CHEK2: 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: CHEK2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 Li-Fraumeni syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | CHEK2 | Steve Keeney reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | CHEK2 | Louise Daugherty Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | CHEK2 | Louise Daugherty Source North West GLH was added to CHEK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | CHEK2 | Louise Daugherty commented on gene: CHEK2: 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: CHEK2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 Li-Fraumeni syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | CHEK2 | Mandy nesbitt reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | CHEK2 | Louise Daugherty Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | CHEK2 | Louise Daugherty Source Yorkshire and North East GLH was added to CHEK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | CHEK2 | Louise Daugherty reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | CHEK2 | Carl Fratter reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | CHEK2 |
Louise Daugherty Source NHS GMS was added to CHEK2. Added phenotypes 609265 (OMIM phenotype description ID) for gene: CHEK2 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | CHEK2 |
Louise Daugherty Source Expert Review Amber was added to CHEK2. Mode of inheritance for gene CHEK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 609265 (OMIM phenotype description ID) for gene: CHEK2 Publications for gene CHEK2 were changed from to 29902706 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | CHEK2 |
Louise Daugherty gene: CHEK2 was added gene: CHEK2 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CHEK2 was set to |
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