Inherited MMR deficiency (Lynch syndrome)Gene: MSH2
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:31 p.m. | Last Modified: 31 Jul 2019, 12:31 p.m.
Panel Version: 0.11
Variants in this GENE are reported as part of current diagnostic practice
Tumor Suppressor. Biallelic phenotype.
Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Lynch Syndrome; CMMRD
Phenotypes for gene: MSH2 were changed from to Colorectal cancer, hereditary nonpolyposis, type 1, OMIM:120435; Lynch syndrome 1, MONDO:0007356
Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: MSH2 was added gene: MSH2 was added to Inherited MMR deficiency (Lynch syndrome). Sources: Expert List,Expert Review Green,NHS GMS Mode of inheritance for gene: MSH2 was set to