CHEK2:Ensemblv90

checkpoint kinase 2
OMIM: 604373, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CHEK2 in Incidentalome


Version 0.370

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Li-Fraumeni syndrome 2 (MIM#609265)
  • {Breast cancer, susceptibility to} (MIM#114480)
  • {Colorectal cancer, susceptibility to} (MIM#114500)
  • {Prostate cancer, familial, susceptibility to} (MIM#176807)
Tags
  • cancer

Green CHEK2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Li-Fraumeni syndrome, MIM#609265

Green CHEK2 in Homologous_recombination_deficiency_WTS_UMCCR


Level 2: Cancer
Version 0.45

0 reviews Unknown
Sources
  • Expert list
  • Expert Review Green
Tags
  • umccr

Red CHEK2 in CGC_86


Version 0.3

0 reviews Other
Sources
  • CGC_86
Phenotypes
  • Familial cancer of breast

Red CHEK2 in NCGC


Version 0.3

0 reviews Other
Sources
  • NCGC
Phenotypes
  • Familial cancer of breast

Red CHEK2 in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Familial cancer of breast

Red CHEK2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Breast cancer, susceptibility to

Green CHEK2 in Incidentalome_PREGEN_DRAFT


Version 0.43

1 review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red CHEK2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Breast cancer, susceptibility to

Green CHEK2 in Incidentalome


Version 1.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Li-Fraumeni syndrome 2 (MIM#609265)
  • {Breast cancer, susceptibility to} (MIM#114480)
  • {Colorectal cancer, susceptibility to} (MIM#114500)
  • {Prostate cancer, familial, susceptibility to} (MIM#176807)
Tags
  • cancer

Green CHEK2 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Li-Fraumeni syndrome, MIM#609265

Red CHEK2 in TCGA_PANCAN_2018


Version 1.0

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Familial cancer of breast