Neurofibromatosis Type 1Gene: MLH1
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, 9:33 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).
MLH1 was added to Neurofibromatosis Type 1panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert Review
MLH1 was created by agardham