Neurofibromatosis Type 1

Gene: MLH1

Green List (high evidence)

MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 35 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

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

Phenotypes
Mismatch repair cancer syndrome, 276300

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Mismatch repair cancer syndrome, 276300
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Nov 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

2 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

MLH1 was added to Neurofibromatosis Type 1panel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert Review

2 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

MLH1 was created by agardham