Haematological malignancies 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 mode of inheritance: Review from Helen Brittain (Genomics England Clinical Team): Biallelic mode of inheritance for constitutional mismatch repair.Created: 24 Aug 2018, 2:32 p.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: Familial cancer syndrome
- Constitutional mismatch repair deficiency
- Lymphoma, ALL, MDS, AML
- Brain tumors, gastrointestinal cancers, GI (colon), ovarian, uterine, CNS, other
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Intellectual disability
- Inherited MMR deficiency (Lynch syndrome)
- Pigmentary skin disorders
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited prostate cancer
- Bladder cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Fetal anomalies
- 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
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
24 Aug 2018, Gel status: 4
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: MLH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to MLH1. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MLH1 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Haematological malignanciespanel. Sources: Curated sources