This Panel is marked as Internal
Intellectual disability update Jan 2018
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
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Variants in MLH1 are also associated with Colorectal cancer, hereditary nonpolyposis, type 2 609310, Muir-Torre syndrome 158320Created: 8 Mar 2018, 2:05 p.m.
Associated with phenotypes in OMIM and as a confirmed G2P association. At least one case of Mismatch repair cancer syndrome 276300 reported to include agenesis of the corpus callosum, gray matter heterotopia, interhemispheric cysts and psychomotor delay.
Reported as an ID candidate gene (Gilessen 2014 PMID 24896178).Created: 8 Mar 2018, 1:45 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Mismatch repair cancer syndrome 276300
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- None
- 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
- Inherited pancreatic cancer
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- Fetal anomalies
- Inherited polyposis and early onset colorectal cancer - germline testing
- Bladder cancer pertinent cancer susceptibility
- 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
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Additional findings health related
History Filter Activity
8 Mar 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for MLH1 were set to 22692065; 24896178
8 Mar 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MLH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
8 Mar 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MLH1 were set to Mismatch repair cancer syndrome 276300
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)MLH1 was created by Ellen McDonagh