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  3. MLH1
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Incidentalome

Gene: MLH1

Green List (high evidence)
MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310

Created: 30 Jul 2020, 8:26 a.m.
Last Modified: 30 Jul 2020, 8:26 a.m.
Panel version: Imported from Additional findings_Adult panel version 0.45

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
  • Victorian Clinical Genetics Services
Phenotypes
  • mismatch repair cancer syndrome 1 MONDO:0010159
Tags
cancer
OMIM
120436
Clinvar variants
Variants in MLH1
Penetrance
None
Panels with this gene

History Filter Activity

22 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mlh1 has been classified as Green List (High Evidence).

22 Aug 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: MLH1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

22 Aug 2023, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag cancer tag was added to gene: MLH1.

22 Aug 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MLH1 were changed from to mismatch repair cancer syndrome 1 MONDO:0010159

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MLH1 was added gene: MLH1 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MLH1 was set to Unknown