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Additional findings health related - CNV analysis adult specific

Gene: MSH2

Green List (high evidence)

MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 36 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bowel cancer predisposition
  • Adult only
  • Hereditary non-polyposis colorectal cancer
Transcripts
  • ENST00000233146.6
  • NM_000251.2
Tags
adult-onset
OMIM
609309
Clinvar variants
Variants in MSH2
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 MSH2 was changed from None to ENST00000233146.6; NM_000251.2 Tag adult-onset tag was added to MSH2.

20 Apr 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: MSH2 was added gene: MSH2 was added to Additional findings health related adult additional CNVs. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MSH2 were set to Bowel cancer predisposition; Adult only; Hereditary non-polyposis colorectal cancer