STRs in panel
Prev Next
Regions in panel
Prev Next

Additional findings health related - CNV analysis adult specific

Gene: MSH6

Green List (high evidence)

MSH6 (mutS homolog 6)
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 39 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Adult only
  • Hereditary non-polyposis colorectal cancer
Transcripts
  • ENST00000234420.9
  • NM_000179.2
Tags
adult-onset
OMIM
600678
Clinvar variants
Variants in MSH6
Penetrance
None
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Set transcript, Added Tag

Eleanor Williams (Genomics England Curator)

Transcript for gene MSH6 was changed from None to ENST00000234420.9; NM_000179.2 Tag adult-onset tag was added to MSH6.

20 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: MSH6 was added gene: MSH6 was added to Additional findings health related adult additional CNVs. Sources: Expert Review Green,Other Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MSH6 were set to Bowel cancer predisposition; Adult only; Hereditary non-polyposis colorectal cancer