Inherited polyposis

Gene: MSH3

Amber List (moderate evidence)

MSH3 (mutS homolog 3)
EnsemblGeneIds (GRCh38): ENSG00000113318
EnsemblGeneIds (GRCh37): ENSG00000113318
OMIM: 600887, Gene2Phenotype
MSH3 is in 2 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Endometrial carcinoma, somatic (MIM# 608089)
Created: 8 Mar 2021, 11:01 a.m. | Last Modified: 8 Mar 2021, 11:01 a.m.
Panel Version: 1.21

Ivone Leong (Genomics England Curator)

Comment on mode of inheritance: Corrected the MOI. Changed Monoallelic to Biallelic.
Created: 5 Aug 2019, 10:21 a.m. | Last Modified: 5 Aug 2019, 10:21 a.m.
Panel Version: 0.51
Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber as cases in this gene is rare.
Created: 1 Feb 2019, 10:06 a.m.

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

Treena Cranston (Oxford)

Red List (low evidence)

Discussed with Prof Ian Tomlinson. To be added to PanelApp as there has been a recent proposal that it may be asssociated with autosomal recessive polyposis/CRC. Not yet published hence low evidence.
Created: 20 Jul 2016, 7:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Familial adenomatous polyposis 4, OMIM:617100
OMIM
600887
Clinvar variants
Variants in MSH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Mar 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MSH3 were set to

8 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MSH3 were changed from to Familial adenomatous polyposis 4, OMIM:617100

5 Aug 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MSH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: msh3 has been classified as Amber List (Moderate Evidence).

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MSH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: msh3 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: MSH3 was added gene: MSH3 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: MSH3 was set to