Additional findings health related
Gene: MUTYHEnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_001128425.1Created: 21 May 2018, 3:57 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Expert Review Green
- Phenotypes
-
- Bowel cancer predisposition
- MYH-associated polyposis
- Adult only
- Transcripts
-
- ENST00000450313.5
- NM_001128425.1
- Tags
- OMIM
- 604933
- Clinvar variants
- Variants in MUTYH
- Penetrance
- None
- 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
Set transcript
Catherine Snow (Genomics England)Transcript for gene MUTYH was changed from ENST00000450313.5 to ENST00000450313.5; NM_001128425.1
Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)Source Additional Findings was removed from MUTYH. Source ACMG was removed from MUTYH. Source Other was added to MUTYH. Phenotypes for gene: MUTYH were changed from ENST00000450313.5; Bowel cancer predisposition; MYH-associated polyposis; Adult only to Bowel cancer predisposition; MYH-associated polyposis; Adult only Transcript for gene MUTYH was changed from None to ENST00000450313.5
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: MUTYH were changed from NM_001128425.1; Bowel cancer predisposition; MYH-associated polyposis; Adult only to ENST00000450313.5; Bowel cancer predisposition; MYH-associated polyposis; Adult only
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MUTYH were set to NM_001128425.1; Bowel cancer predisposition; MYH-associated polyposis; Adult only
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MUTYH were set to Bowel cancer predisposition; MYH-associated polyposis; Adult only
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MUTYH was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)MUTYH was created by Ellen McDonagh