Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

Gene: MSH6

Red List (low evidence)

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

3 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

not a cause of immunodeficiency
Created: 29 Jun 2018, 9:47 p.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. Numerous variants reported. The phenotypes are not directly relevant for the Primary immunodeficiency disorders panel and should not be reported as they are cancers included in the reporting of secondary finding
Created: 1 May 2018, 2:29 p.m.

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): MSH6 .PanelApp HGNC gene symbol check: MSH6 . IUIS Disease: MSH6 . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Family or personal history of cancer. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: no PID evidence - multiple evidence associated to cancer
Created: 27 Jun 2018, 7:32 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: MSH6, GRID_Gene_Symbol: MSH6, GRID_Transcript_ENS_Community submitted: ENST00000234420, GRID_Transcript_RefSeq: NM_000179.2, GRID_Transcript_ENS_used_on_Production: ENST00000234420
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Red
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Family or personal history of cancer
  • Mismatch repair cancer syndrome 276300
  • Endometrial cancer, familial 608089
  • Predominantly Antibody Deficiencies
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350
OMIM
600678
Clinvar variants
Variants in MSH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to MSH6. Mode of inheritance for gene MSH6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Predominantly Antibody Deficiencies; Family or personal history of cancer for gene: MSH6 Publications for gene MSH6 were updated from to 32048120; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5 614350, Endometrial cancer, familial 608089, Mismatch repair cancer syndrome 276300, Family or personal history of cancer, Predominantly Antibody Deficiencies

27 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: msh6 has been classified as Red List (Low Evidence).

27 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: msh6 has been classified as Red List (Low Evidence).

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to MSH6. Panel: Primary immunodeficiency disorders

1 May 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

1 May 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 May 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 May 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5 614350; Endometrial cancer, familial 608089; Mismatch repair cancer syndrome 276300

1 May 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to MSH6. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

MSH6 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

MSH6 was created by Louise Daugherty