GI tract tumours

Gene: MUTYH

Green List (high evidence)

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

Green List (high evidence)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Lara Hawkes (Genomics England)

Green List (high evidence)

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)

Green List (high evidence)

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

History Filter Activity

29 Jan 2019, Gel status: 3

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)

3 May 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for MUTYH were set to Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456

12 May 2017, Gel status: 4

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

12 May 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MUTYH were set to 12853198

12 May 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for MUTYH were set to Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456

11 May 2017, Gel status: 4

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

11 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MUTYH was created by ellenmcdonagh

11 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

MUTYH was added to GI tractpanel. Sources: Emory Genetics Laboratory,Expert list,Expert Review Green