This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
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
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Details
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Colorectal cancer, hereditary nonpolyposis, type 2, 609310
- Mismatch repair cancer syndrome, 276300
- Muir-Torre syndrome, 158320
- Lynch Syndrome (HNPCC) and Familial Colorectal Cancer
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- Complete
- Publications
- 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
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours 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
- Intellectual disability
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- 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
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Additional findings health related
History Filter Activity
11 May 2017, Gel status: 2
Set publications
Rebecca Foulger (Genomics England curator)Publications for MLH1 were set to 26903185
10 Dec 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MLH1 was created by ellenmcdonagh
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen