Predominantly Antibody Deficiency

Gene: MSH6

Red List (low evidence)

MSH6 (mutS homolog 6)
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 17 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

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 list
Created: 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

History Filter Activity

18 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh6 has been classified as Red List (Low Evidence).

18 Mar 2021, Gel status: 1

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

18 Mar 2021, Gel status: 1

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