Peutz-Jeghers syndrome

Gene: MUTYH

Green List (high evidence)

MUTYH (mutY DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 12 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Gastrointestinal and Colorectal Cancer
  • High Risk Colorectal Cancer
  • MYH-Associated Polyposis
  • MUTYH-Associated Polyposis
  • Familial Adenomatous Polyposis, 2
  • adenomatous polyposis
OMIM
604933
Clinvar variants
Variants in MUTYH
Penetrance
Complete
Publications
  • Sampson JR, Dolwani S, Jones S, Eccles D, Ellis A, Evans DG, Frayling I, Pigatto F, Jordan S, Mak T, Maher ER, Maynard J, Shaw J, Cheadle JP. (2003) Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. Lancet 362(9377):39-41.
Panels with this gene

History Filter Activity

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MUTYH was added to Peutz-Jeghers syndromepanel. Source: Illumina TruGenome Clinical Sequencing Services MUTYH was added to Peutz-Jeghers syndromepanel. Source: UKGTN MUTYH was added to Peutz-Jeghers syndromepanel. Source: Eligibility statement prior genetic testing

3 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MUTYH was created by ellenmcdonagh

3 Jun 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MUTYH was added to Peutz-Jeghers syndromepanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green