COVID-19 researchGene: MSH6
not a cause of immunodeficiency
Created: 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 finding
Created: 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 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.
Source Expert Review Green was added to MSH6. Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 5 614350; Endometrial cancer, familial 608089; Predominantly Antibody Deficiencies; Family or personal history of cancer; Mismatch repair cancer syndrome 276300 for gene: MSH6 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: MSH6 was added gene: MSH6 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,GRID V2.0,IUIS Classification December 2019 Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH6 were set to 32086639; 32048120 Phenotypes for gene: MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5 614350; Endometrial cancer, familial 608089; Predominantly Antibody Deficiencies; Family or personal history of cancer; Mismatch repair cancer syndrome 276300