Multiple monogenic benign skin tumours
Gene: MSH6

MSH6 (mutS homolog 6)
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 39 panels

1 review

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

There have been rare reports of MSH6 causing a Muir-Torre phenotype.
Sources: Expert list
Created: 17 Apr 2019, 9:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Muir-Torre syndrome

Created: 17 Apr 2019, 9:56 p.m.

Panel version: 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

Muir-Torre syndrome, MONDO:0008018

OMIM

600678

Clinvar variants

Variants in MSH6

Penetrance

None

Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MSH6 were changed from Muir-Torre syndrome to Muir-Torre syndrome, MONDO:0008018

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

Gene: msh6 has been classified as Amber List (Moderate Evidence).

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

gene: MSH6 was added gene: MSH6 was added to Multiple monogenic benign skin tumours. Sources: Expert list Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSH6 were set to Muir-Torre syndrome Review for gene: MSH6 was set to AMBER

Multiple monogenic benign skin tumours Gene: MSH6