Multiple bowel polyps
Gene: MSH6Comment when marking as ready: Corrected from MHS6 in original version of the panel (but OMIM number above may still be wrong).Created: 29 Jan 2016, 4:36 p.m.
Comment on list classification: Biallelic mutations cause juvenile polyposis. Monoallelic mutations also relevant as overlap between colorectal cancer and polyposis.Created: 29 Jan 2016, 4:35 p.m.
Only predisposes to multiple adenomas with biallelic mutations, i.e. Constitutional Mismatch Repair Disorder (CMMR-D)Created: 8 Dec 2015, 2:38 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
Publications for MSH6 were set to Wimmer, K., Kratz, C. P., Vasen, H. F., et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’(C4CMMRD). Journal of Medical Genetics 2014; 51: 355-365.
Mode of inheritance for MSH6 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
MHS6 was changed to MSH6
MHS6 was added to Multiple bowel polypspanel. Sources: Eligibility statement prior genetic testing
MHS6 was added to Multiple bowel polypspanel. Sources: Eligibility statement prior genetic testing