Multiple monogenic benign skin tumours
Gene: MLH1

MLH1 (mutL homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000076242
EnsemblGeneIds (GRCh37): ENSG00000076242
OMIM: 120436, Gene2Phenotype
MLH1 is in 36 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of a revised gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 18.Feb.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MLH1; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 19 Feb 2019, 7:43 p.m.

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

Created: 19 Feb 2019, 7:43 p.m.

Panel version: 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
London North GLH
Expert Review Green

Phenotypes

Muir-Torre syndrome, OMIM:158320

OMIM

120436

Clinvar variants

Variants in MLH1

Penetrance

None

Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MLH1 were changed from to Muir-Torre syndrome, OMIM:158320

19 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: MLH1 was added gene: MLH1 was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Multiple monogenic benign skin tumours Gene: MLH1