Genodermatoses with malignancies

Gene: MLH1

Green List (high evidence)

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

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Prior genetic testing, current diagnostic.
Created: 15 Feb 2016, noon

Ajith Kumar (Great Ormond Street Hospital)

Green List (high evidence)

It should be possible to distinguish between Gorlin, Cowden and Muir Torre syndrome clinically in most instances. MLH1 mutations are less likely than MSH2 mutations to be associated with a Muir Torre phenotype (association of sebaceous gland tumours with internal malignancies).
Created: 19 Oct 2015, 11:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
bowel cancer; uterine (endometrial) cancer; benign sebaceous gland tumours, sebaceous cancer

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 2, 609310
  • Mismatch repair cancer syndrome, 276300
  • Muir-Torre syndrome, 158320
  • Muir-Torre Syndrome
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

15 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for MLH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Genodermatoses with malignanciespanel. Source: Eligibility statement prior genetic testing

27 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Genodermatoses with malignanciespanel. Source: UKGTN

27 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Genodermatoses with malignanciespanel. Source: Radboud University Medical Center, Nijmegen

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Genodermatoses with malignanciespanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MLH1 was added to Genodermatoses with malignanciespanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN