Inherited pancreatic cancer

Gene: MSH6

Amber List (moderate evidence)

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with {Endometrial cancer, familial} (MIM# 608089); Colorectal cancer, hereditary nonpolyposis, type 5 (MIM# 614350); Mismatch repair cancer syndrome 2 (MIM# 619097)
Created: 3 Mar 2021, 2:39 p.m. | Last Modified: 3 Mar 2021, 2:39 p.m.
Panel Version: 1.13

Rachel Robinson (Leeds Genetics Laboratory)

I don't know

Publications

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

Lara Hawkes (Genomics England)

I don't know

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Biallelic phenotype.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lynch Syndrome; CMMRD

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert List
Phenotypes
  • Malignant pancreatic neoplasm, MONDO:0009831
OMIM
600678
Clinvar variants
Variants in MSH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MSH6 were changed from to Malignant pancreatic neoplasm, MONDO:0009831

15 Oct 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MSH6 were set to

30 Jan 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: MSH6 was added gene: MSH6 was added to Inherited pancreatic cancer. Sources: Expert List,NHS GMS Mode of inheritance for gene: MSH6 was set to