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Facial papules

Gene: MSH2

Green List (high evidence)
MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition.
Sources: Expert list
Created: 19 Jun 2023, 2:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Jun 2023, 2:28 a.m.

Panel version: 0.40

History Filter Activity

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh2 has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: msh2 has been classified as Green List (High Evidence).

19 Jun 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MSH2 was added gene: MSH2 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MSH2 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524 Phenotypes for gene: MSH2 were set to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018 Review for gene: MSH2 was set to GREEN gene: MSH2 was marked as current diagnostic