Upper gastrointestinal cancer pertinent cancer susceptibility
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for Hepatopancreatobiliary/ Upper Gastrointestinal tumour types.Created: 26 Jul 2017, 12:20 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adult Glioma; Colorectal; Endometrial Carcinoma; Hepatopancreatobiliary; Ovarian
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hepatopancreatobiliary
- Upper Gastrointestinal
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- Complete
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Intellectual disability
- 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
- 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
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
26 Jul 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MLH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Upper gastrointestinal cancerpanel. Sources: Expert list
20 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MLH1 was created by ellenmcdonagh