GI tract tumours
Gene: MUTYHEnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 panels
5 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:26 p.m. | Last Modified: 31 Jul 2019, 12:26 p.m.
Panel Version: 1.13
Rachel Robinson (Leeds Genetics Laboratory)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen Thomas (Genomics England Curator)
Comment on list classification: Current diagnostic.Created: 7 Feb 2016, 9:25 p.m.
Ian Frayling (Cardiff University)
http://chromium.lovd.nl/LOVD2/colon_cancer/home.php?select_db=MUTYH
Created: 8 Dec 2015, 2:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert List
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Eligibility statement prior genetic testing
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456
- OMIM
- 604933
- Clinvar variants
- Variants in MUTYH
- Penetrance
- Complete
- Publications
- 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
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to MUTYH. Source NHS GMS was added to MUTYH. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for MUTYH were set to Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456
panel promoted to version 1
Sarah Leigh (Genomics England Curator)This panel has been formed as a result of merging Familial colon cancer (Version 1.5), Multiple bowel polyps (Version 1.9), Peutz-Jeghers syndrome (Version 0.20) panels and copying the reviews from each panel into this united GI Tract panel
Set publications
Sarah Leigh (Genomics England Curator)Publications for MUTYH were set to 12853198
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MUTYH were set to Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456
Added New Source
Ellen McDonagh (Genomics England Curator)MUTYH was added to GI tractpanel. Source: Illumina TruGenome Clinical Sequencing Services MUTYH was added to GI tractpanel. Source: UKGTN MUTYH was added to GI tractpanel. Source: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)MUTYH was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MUTYH was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green