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Incidentalome

Gene: CHEK2

Green List (high evidence)
CHEK2 (checkpoint kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000183765
EnsemblGeneIds (GRCh37): ENSG00000183765
OMIM: 604373, Gene2Phenotype
CHEK2 is in 7 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 36529819- new biallelic adult cancer predisposition association. 2 families with 14 affected members however 4 affected members are only heterozygous for the familial variant/s and others not sequenced. Of those sequenced only 4 were chet or hom for CHEK2 variants. Cancers are adult onset with cancers ranging from breast, thyroid, colon. Meningioma, neuroblastoma, prostate and AML. This paper also reviews previous biallelic reports, 6 other families/individuals with homozygous CHEK2 variants and a range of cancers.
Created: 5 Jan 2023, 3:52 a.m. | Last Modified: 5 Jan 2023, 3:52 a.m.
Panel Version: 0.219

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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)

Publications

Created: 5 Jan 2023, 3:52 a.m.
Last Modified: 5 Jan 2023, 3:52 a.m.
Panel version: 0.219

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Decision to add to Incidentalome by Genomics MDT 6/12/19.
Created: 6 Dec 2019, 1:04 a.m. | Last Modified: 6 Dec 2019, 1:04 a.m.
Panel Version: 0.2
Sources: Other
Created: 6 Dec 2019, 1:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Breast cancer

Created: 6 Dec 2019, 1:03 a.m.

Panel version: 0.1

Details

Mode of Inheritance
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
OMIM
604373
Clinvar variants
Variants in CHEK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag cancer tag was added to gene: CHEK2.

5 Jan 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CHEK2 were changed from 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) to 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)

5 Jan 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: CHEK2 were changed from Breast cancer to 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)

5 Jan 2023, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: CHEK2 were set to

5 Jan 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHEK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Jan 2023, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: CHEK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Jan 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chek2 has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chek2 has been classified as Green List (High Evidence).

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHEK2 was added gene: CHEK2 was added to Incidentalome_VCGS. Sources: Other Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHEK2 were set to Breast cancer Review for gene: CHEK2 was set to GREEN