Tumour predisposition - adult onset
Gene: MLH1EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
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Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- CMMRD
- Lynch Syndrome
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- None
- Panels with this gene
-
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Intellectual disability
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Inherited MMR deficiency (Lynch syndrome)
- Fetal anomalies
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited prostate cancer
- Bladder cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Inherited renal cancer
- 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 ovarian cancer (without breast cancer)
- 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
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Childhood solid tumours
- Additional findings health related
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Added New Source, Set Phenotypes
Rebecca Foulger (Genomics England curator)Source Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) was added to MLH1. Added phenotypes Brain, CNS, and PNS Cancer for gene: MLH1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: MLH1 was added gene: MLH1 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were set to CMMRD; Lynch Syndrome