CHEK2

checkpoint kinase 2
OMIM: 604373, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CHEK2 in Familial breast cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.20	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Li-Fraumeni syndrome, 609265 Osteosarcoma, somatic, 259500 {Breast cancer, susceptibility to}, 114480 {Prostate cancer, familial, susceptibility to}, 176807 {Breast and colorectal cancer, susceptibility to} Breast and Ovarian Cancer Breast Cancer
Red CHEK2 in Familial prostate cancer Version 1.3	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes {Prostate cancer, familial, susceptibility to}
Amber CHEK2 in Adult solid tumours for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.40	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Breast cancer
Red CHEK2 in Inherited ovarian cancer (without breast cancer) Level 3: Breast and endocrine Level 2: Tumour syndromes Version 4.3 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert Review Red Phenotypes Li-Fraumeni syndrome, 609265 Osteosarcoma, somatic, 259500 {Breast cancer, susceptibility to}, 114480 {Prostate cancer, familial, susceptibility to}, 176807 {Breast and colorectal cancer, susceptibility to} Breast and Ovarian Cancer Breast Cancer
Red CHEK2 in GI tract tumours Level 3: GI tract Level 2: Tumour syndromes Version 1.22	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert Review Red Phenotypes Colorectal cancer Gastrointestinal and Colorectal Cancer High Risk Colorectal Cancer
Green CHEK2 in Inherited breast cancer and ovarian cancer Version 2.11 Latest signed off version: v2.5 (12 Apr 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes {Breast cancer, susceptibility to}, OMIM:114480
Amber CHEK2 in Inherited predisposition to acute myeloid leukaemia (AML) Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes 609265 Li-Fraumeni syndrome 609265 (OMIM phenotype description ID)
Amber CHEK2 in Adult solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 2.29 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Expert list Phenotypes Breast cancer
Green CHEK2 in Inherited prostate cancer Version 1.4 Latest signed off version: v1.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green