Additional findings health related - CNV analysis adult specific
Gene: MUTYH
MUTYH (mutY DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Expert Review Green
- Phenotypes
-
- Adult only
- Bowel cancer predisposition
- MYH-associated polyposis
- 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
20 Apr 2020, Gel status: 3
Set transcript, Added Tag
Eleanor Williams (Genomics England Curator)Transcript for gene MUTYH was changed from None to ENST00000450313.5; NM_001128425.1 Tag adult-onset tag was added to MUTYH.
20 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MUTYH was added gene: MUTYH was added to Additional findings health related adult additional CNVs. Sources: Expert Review Green,Other Mode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUTYH were set to Adult only; Bowel cancer predisposition; MYH-associated polyposis