Familial Tumours Syndromes of the central & peripheral Nervous system

Gene: MSH2

Green List (high evidence)

MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 36 panels

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Biallelic mutations cause phenotype similar to NF1 with severe tumour predisposition.
Created: 15 Feb 2016, 12:55 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer
OMIM
609309
Clinvar variants
Variants in MSH2
Penetrance
Complete
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for MSH2 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MSH2 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory

22 Jul 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MSH2 was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory