CHEK2

checkpoint kinase 2
OMIM: 604373, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CHEK2 in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

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 1.1

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 1.22

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 2.20
Latest signed off version: v2.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • 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 GI tract tumours

Level 3: GI tract
Level 2: Tumour syndromes
Version 1.18

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Colorectal cancer
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer

Amber CHEK2 in Inherited predisposition to acute myeloid leukaemia (AML)


Version 1.19
Latest signed off version: v1.2 (3 Mar 2020)

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 2.9
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