Pigmentary skin disorders

Gene: MSH2

Green List (high evidence)

MSH2 (mutS homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 33 panels

3 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MISMATCH REPAIR CANCER SYNDROME, 276300

Publications

Catherine Snow (Genomics England)

Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change MSH2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.
Created: 28 Nov 2019, 2:23 p.m. | Last Modified: 28 Nov 2019, 2:23 p.m.
Panel Version: 0.18

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MSH2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
OMIM
609309
Clinvar variants
Variants in MSH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MSH2 Publications for gene MSH2 were changed from to 16372347

28 Nov 2019, Gel status: 3

Set mode of inheritance

Catherine Snow (Genomics England)

Mode of inheritance for gene: MSH2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to MSH2.

31 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MSH2 was added gene: MSH2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300