Inherited predisposition to acute myeloid leukaemia (AML)
Gene: CHEK2
Not on the WWMGLH familial MDS/AML panel. Clear association with LFS, but not with familial MDS/AML. Testing not recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). Not in WHO classification of myeloid neoplasms with germline predisposition. ?More prevalent in t-MN.Created: 7 Mar 2019, 11:46 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
609265 Li-Fraumeni syndrome
Gene rating submitted 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.Created: 18 Feb 2019, 2:06 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
609265 Li-Fraumeni syndrome
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
609265 Li-Fraumeni syndrome
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 AmberCreated: 18 Mar 2019, 4:27 p.m.
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 submittedCreated: 18 Feb 2019, 2:12 p.m.
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 submittedCreated: 14 Feb 2019, 2:43 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested intial gene rating: not submitted; Are variants in this gene part of your current diagnostic practice? not submitted; MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 (OMIM phenotype description ID); PMID(s): 25920683; 26712909Created: 5 Feb 2019, 8:10 p.m.
Gene rating (none submitted) by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 5 Feb 2019, 8:08 p.m.
Gene: chek2 has been classified as Amber List (Moderate Evidence).
Gene: chek2 has been classified as Green List (High Evidence).
Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2
Source North West GLH was added to CHEK2.
Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2
Source Yorkshire and North East GLH was added to CHEK2.
Source NHS GMS was added to CHEK2. Added phenotypes 609265 (OMIM phenotype description ID) for gene: CHEK2
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)
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