Adult solid tumours for rare disease
Gene: CHEK2
Comment on list classification: As per updated information from Clare Turnbull and Lara HawkesCreated: 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.
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
Gene: chek2 has been classified as Amber List (Moderate Evidence).
Gene: chek2 has been classified as Green List (High Evidence).
Gene: chek2 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for gene: CHEK2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
5th March 2018 - promoted to version 1 after expert review and internal clinical review.
CHEK2 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
CHEK2 was created by Ellen McDonagh