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Severe Paediatric Disorders

Gene: MSH6

Green List (high evidence)

MSH6 (mutS homolog 6)
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 39 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: MSH6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3) | Mismatch repair cancer syndrome, 276300 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Mismatch repair cancer syndrome, 276300
  • Colorectal cancer, hereditary nonpolyposis, type 5, 614350
OMIM
600678
Clinvar variants
Variants in MSH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MSH6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MSH6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 for gene: MSH6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 for gene: MSH6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 for gene: MSH6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 5, 614350; Mismatch repair cancer syndrome, 276300 for gene: MSH6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MSH6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MSH6. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MSH6 was added gene: MSH6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MSH6 was set to