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Severe Paediatric Disorders

Gene: MUTYH

Red List (low evidence)

MUTYH (mutY DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MUTYH; Recommended initial gene rating: Red List (low evidence); Phenotypes: Adrenal adenoma, somatic (3) | Angiofibroma, somatic (3) | Carcinoid tumor of lung (3) | Lipoma, somatic (3) | Multiple endocrine neoplasia 1, 131100 (3) | Parathyroid adenoma, somatic (3); Mode of inheritance: ND | ND | ND | ND | Autosomal dominant | ND
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Red
  • Expert list
Phenotypes
  • Angiofibroma, somatic
  • Carcinoid tumor of lung
  • Multiple endocrine neoplasia 1, 131100
  • Lipoma, somatic
  • Adrenal adenoma, somatic
  • Parathyroid adenoma, somatic
OMIM
604933
Clinvar variants
Variants in MUTYH
Penetrance
None
Publications
Panels with this gene