Neurofibromatosis Type 1Gene: PMS2
Mismatch repair cancer syndrome is caused by homozygous or compound heterozygous mutation in the mismatch repair genes MLH1 (120436), MSH2 (609309), MSH6 (600678), or PMS2 (600259). Heterozygous mutations in the MMR genes result in hereditary nonpolyposis colorectal cancer
Created: 2 Nov 2016, 9:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mismatch repair cancer syndrome, 276300
Panel finalised 14th November 2016
This gene has been classified as Green List (High Evidence).
PMS2 was added to Neurofibromatosis Type 1panel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert Review
PMS2 was created by agardham