Research panel - Severe Paediatric Disorders
Gene: MUTYH

MUTYH (mutY DNA glycosylase)
EnsemblGeneIds (GRCh38): ENSG00000132781
EnsemblGeneIds (GRCh37): ENSG00000132781
OMIM: 604933, Gene2Phenotype
MUTYH is in 10 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

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

30847515

Panels with this gene