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MUTYH

Chr 1p34.1

mutY DNA glycosylase

Aliases:
MYH
MANE:
ENST00000456914.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Additional findings health related

    BIALLELIC, autosomal or pseudoautosomal
  • Additional findings health related - adult specific

    BIALLELIC, autosomal or pseudoautosomal
  • Additional findings health related - CNV analysis adult specific

    BIALLELIC, autosomal or pseudoautosomal
  • Adult solid tumours cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Adult solid tumours for rare disease

    BIALLELIC, autosomal or pseudoautosomal
  • Colorectal cancer pertinent cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • GI tract tumours

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited polyposis and early onset colorectal cancer - germline testing

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • familial adenomatous polyposis 2

    0.85
  • Familial adenomatous polyposis

    0.77
  • gastric cancer

    0.70
  • colorectal cancer

    0.62
  • colon carcinoma

    0.61
  • mutyh-associated polyposis

    0.59
  • Inherited cancer-predisposing syndrome

    0.58
  • hereditary neoplastic syndrome

    0.58
  • breast carcinoma

    0.58
  • colorectal adenocarcinoma

    0.55

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Adenine DNA glycosylase

Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities

Curated MONDO disease pages that list MUTYH among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.