Genodermatoses with malignancies
Gene: MLH1EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Prior genetic testing, current diagnostic.Created: 15 Feb 2016, noon
Ajith Kumar (Great Ormond Street Hospital)
It should be possible to distinguish between Gorlin, Cowden and Muir Torre syndrome clinically in most instances. MLH1 mutations are less likely than MSH2 mutations to be associated with a Muir Torre phenotype (association of sebaceous gland tumours with internal malignancies).Created: 19 Oct 2015, 11:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
bowel cancer; uterine (endometrial) cancer; benign sebaceous gland tumours, sebaceous cancer
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Colorectal cancer, hereditary nonpolyposis, type 2, 609310
- Mismatch repair cancer syndrome, 276300
- Muir-Torre syndrome, 158320
- Muir-Torre Syndrome
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- Complete
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Intellectual disability
- Pigmentary skin disorders
- Inherited polyposis and early onset colorectal cancer - germline testing
- Bladder cancer pertinent cancer susceptibility
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Additional findings health related - adult specific
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Additional findings health related
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for MLH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN