Adult solid tumours for rare disease

Gene: CHEK2

Amber List (moderate evidence)

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

2 reviews

Helen Brittain (Genomics England Curator)

I don't know

Comment on list classification: As per updated information from Clare Turnbull and Lara Hawkes
Created: 24 Aug 2018, 2:18 p.m.
Demoted this gene from Green to Amber due to feedback from Lara Hawkes and Clare Turnbull (Cancer Clinical Team, Genomics England), in view of level of risk associated with this gene.
Created: 24 Aug 2018, 2:17 p.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor. Biallelic phenotype.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Breast cancer

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • Breast cancer
OMIM
604373
Clinvar variants
Variants in CHEK2
Penetrance
None
Panels with this gene

History Filter Activity

24 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: chek2 has been classified as Amber List (Moderate Evidence).

20 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: chek2 has been classified as Red List (Low Evidence).

20 Aug 2018, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Aug 2018, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: CHEK2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Aug 2018, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

5 Mar 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

5th March 2018 - promoted to version 1 after expert review and internal clinical review.

19 Dec 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CHEK2 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list

19 Dec 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

CHEK2 was created by Ellen McDonagh