Neurofibromatosis Type 1
Gene: MLH1
MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
1 review
Alice Gardham (Genomics England)
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 cancerCreated: 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
-
- Multiple monogenic benign skin tumours
- Inherited polyposis and early onset colorectal cancer - germline testing
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Genodermatoses with malignancies
- Inherited pancreatic cancer
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- Inherited MMR deficiency (Lynch syndrome)
- Inherited renal cancer
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Intellectual disability
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Endocrine neoplasia
- Prostate cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Fetal anomalies
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Additional findings health related - adult specific
- Childhood solid tumours
- Additional findings health related
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