Predominantly Antibody Deficiency
Gene: MSH6EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 17 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
5 CMMRD cases with homozygous/compound heterozygous did not show any clinical warning signs of PID (infections, immune dysregulation, inflammation, failure to thrive, etc.) or uniform/specific patterns of laboratory abnormalities.
Sources: Expert listCreated: 18 Mar 2021, 4:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency; immunodeficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Mismatch repair cancer syndrome 3 MIM#619097
- constitutional mismatch repair deficiency
- immunodeficiency
- OMIM
- 600678
- Clinvar variants
- Variants in MSH6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Predominantly Antibody Deficiency
- Prostate Cancer
- Ovarian Cancer
- Incidentalome_PREGEN_DRAFT
- Pancreatic Cancer
- BabyScreen+ newborn screening
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Colorectal Cancer and Polyposis
- Cancer Predisposition_Paediatric
- Medulloblastoma
- Endometrial Cancer
- Incidentalome
- Additional findings_Paediatric
- Additional findings_Adult
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: msh6 has been classified as Red List (Low Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency; immunodeficiency
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MSH6 was added gene: MSH6 was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSH6 were set to 22250089; 32048120; 30013564 Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome 3 MIM#619097; constitutional mismatch repair deficiency Review for gene: MSH6 was set to RED