COVID-19 research
Gene: MSH6
MSH6 (mutS homolog 6)
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 39 panels
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 39 panels
3 reviews
Sophie Hambleton (Newcastle University)
not a cause of immunodeficiencyCreated: 29 Jun 2018, 9:47 p.m.
Sarah Leigh (Genomics England Curator)
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.
Louise Daugherty (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- GRID V2.0
- IUIS Classification February 2018
- IUIS Classification December 2019
- IUIS Classification February 2018
- GRID V2.0
- Phenotypes
-
- Colorectal cancer, hereditary nonpolyposis, type 5 614350
- Endometrial cancer, familial 608089
- Family or personal history of cancer
- Predominantly Antibody Deficiencies
- Mismatch repair cancer syndrome 276300
- OMIM
- 600678
- Clinvar variants
- Variants in MSH6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Brain cancer pertinent cancer susceptibility
- Haematological malignancies cancer susceptibility
- Inherited pancreatic cancer
- Pigmentary skin disorders
- COVID-19 research
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Fetal anomalies
- Bladder cancer pertinent cancer susceptibility
- Childhood solid tumours cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
History Filter Activity
2 Apr 2020, Gel status: 3
Added New Source, Set Phenotypes, Status Update
Ellen McDonagh (Genomics England Curator)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)
1 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)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