Additional findings health related
Gene: MLH1EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_000249.3Created: 21 May 2018, 3:55 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Bowel cancer predisposition
- Hereditary non-polyposis colorectal cancer
- Adult only
- Transcripts
-
- ENST00000231790.6
- NM_000249.3
- Tags
- OMIM
- 120436
- Clinvar variants
- Variants in MLH1
- Penetrance
- None
- 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
Set transcript
Catherine Snow (Genomics England)Transcript for gene MLH1 was changed from ENST00000231790.6 to ENST00000231790.6; NM_000249.3
Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)Source Additional Findings was removed from MLH1. Source ACMG was removed from MLH1. Source Expert list was added to MLH1. Phenotypes for gene: MLH1 were changed from ENST00000231790.6; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only Transcript for gene MLH1 was changed from None to ENST00000231790.6
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: MLH1 were changed from NM_000249.3; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only to ENST00000231790.6; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MLH1 were set to NM_000249.3; Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MLH1 were set to Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MLH1 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)MLH1 was created by Ellen McDonagh