Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MSH6
not a cause of immunodeficiencyCreated: 29 Jun 2018, 9:47 p.m.
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 findingCreated: 1 May 2018, 2:29 p.m.
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 IgMCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: no PID evidence - multiple evidence associated to cancerCreated: 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: ENST00000234420Created: 17 Apr 2018, 12:12 p.m.
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
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.
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
Gene: msh6 has been classified as Red List (Low Evidence).
Gene: msh6 has been classified as Red List (Low Evidence).
IUIS Classification February 2018 was added to MSH6. Panel: Primary immunodeficiency disorders
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MSH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5 614350; Endometrial cancer, familial 608089; Mismatch repair cancer syndrome 276300
This gene has been classified as Red List (Low Evidence).
Expert Review Amber was added to MSH6. Panel: Primary immunodeficiency disorders
Phenotypes for gene MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5
MSH6 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
MSH6 was created by Louise Daugherty