Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MSH6EnsemblGeneIds (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
-
- 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
-
- 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
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
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.
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
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: msh6 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: msh6 has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)IUIS Classification February 2018 was added to MSH6. Panel: Primary immunodeficiency disorders
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
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
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Expert Review Amber was added to MSH6. Panel: Primary immunodeficiency disorders
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5
Added New Source
Louise Daugherty (Genomics England Curator)MSH6 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
Created
Louise Daugherty (Genomics England Curator)MSH6 was created by Louise Daugherty