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  2. Colorectal Cancer and Polyposis
  3. MUTYH
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Colorectal Cancer and Polyposis

Gene: MUTYH

Green List (high evidence)
MUTYH (mutY DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Created: 25 Sep 2024, 10:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Familial adenomatous polyposis 2, MONDO:0012041; Adenomas, multiple colorectal, MIM#608456

Created: 25 Sep 2024, 10:26 p.m.

Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Colorectal cancer, MONDO:0005575
  • Polyposis, MONDO:0000147
  • Familial adenomatous polyposis 2, MONDO:0012041
  • Adenomas, multiple colorectal, MIM#608456
OMIM
604933
Clinvar variants
Variants in MUTYH
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: MUTYH was added gene: MUTYH was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUTYH were set to Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Familial adenomatous polyposis 2, MONDO:0012041; Adenomas, multiple colorectal, MIM#608456 Review for gene: MUTYH was set to GREEN