This Panel is marked as Internal
Peutz-Jeghers syndrome
Gene: MUTYH
MUTYH (mutY DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 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
-
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Familial breast cancer
- Additional findings health related - CNV analysis adult specific
- GI tract tumours
- Additional findings health related - adult specific
- Adult solid tumours cancer susceptibility
- Inherited ovarian cancer (without breast cancer)
- Additional findings health related
- Inherited polyposis and early onset colorectal cancer - germline testing
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