Additional findings health related

Gene: MLH1

Green List (high evidence)

MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 34 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Clinically relevant transcript NM_000249.3
Created: 21 May 2018, 3:55 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Bowel cancer predisposition
  • Hereditary non-polyposis colorectal cancer
  • Adult only
Transcripts
  • ENST00000231790.6
  • NM_000249.3
Tags
adult-onset
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
None
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 3

Set transcript

Catherine Snow (Genomics England)

Transcript for gene MLH1 was changed from ENST00000231790.6 to ENST00000231790.6; NM_000249.3

19 Nov 2019, Gel status: 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

10 Oct 2019, Gel status: 3

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

21 May 2018, Gel status: 3

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

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MLH1 were set to Bowel cancer predisposition; Hereditary non-polyposis colorectal cancer; Adult only

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MLH1 was created by Ellen McDonagh