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Inherited polyposis and early onset colorectal cancer - germline testing

Gene: MUTYH

Green List (high evidence)
MUTYH (mutY DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Gastric cancer, somatic (MIM# 613659)
Created: 8 Mar 2021, 10:11 a.m. | Last Modified: 8 Mar 2021, 10:11 a.m.
Panel Version: 1.12
Created: 8 Mar 2021, 10:11 a.m.
Last Modified: 8 Mar 2021, 10:11 a.m.
Panel version: 1.12

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, 12:34 p.m. | Last Modified: 31 Jul 2019, 12:34 p.m.
Panel Version: 0.48
Created: 31 Jul 2019, 12:34 p.m.
Last Modified: 31 Jul 2019, 12:34 p.m.
Panel version: 0.48

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Publications

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

Created: 30 Jan 2019, 9:44 a.m.

Panel version: 0.3

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jan 2019, 9:44 a.m.

Panel version: 0.3

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Colorectal cancer

Created: 5 Jul 2017, 12:19 p.m.

Panel version: Imported from Adult solid tumours pertinent cancer susceptibility panel version 0.2

Ellen Thomas (Genomics England Curator)

Comment on list classification: Current diagnostic.
Created: 7 Feb 2016, 9:25 p.m.
Created: 7 Feb 2016, 9:25 p.m.

Panel version: Imported from Inherited colorectal cancer (with or without polyposis) panel version Imported from "Familial colon cancer" panel version 0.15

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.

Created: 8 Dec 2015, 2:24 p.m.

Panel version: Imported from Inherited colorectal cancer (with or without polyposis) panel version Imported from "Familial colon cancer" panel version 0

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MUTYH were changed from Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 to Adenomas, multiple colorectal, OMIM:608456

2 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 for gene: MUTYH

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MUTYH was changed from to BIALLELIC, autosomal or pseudoautosomal

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mutyh has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: MUTYH was added gene: MUTYH was added to Inherited polyposis. Sources: Expert List,NHS GMS Mode of inheritance for gene: MUTYH was set to