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Intellectual disability syndromic and non-syndromic

Gene: MSH6

Red List (low evidence)

MSH6 (mutS homolog 6)
EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 17 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Not an ID gene.
Created: 5 Dec 2019, 1:45 a.m. | Last Modified: 5 Dec 2019, 1:45 a.m.
Panel Version: 0.447

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: msh6 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MSH6. Source Expert list was added to MSH6. Mode of inheritance for gene MSH6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: msh6 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MSH6 was added gene: MSH6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MSH6 was set to Unknown