Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.8 | MSH3 | Eleanor Williams Classified gene: MSH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.8 | MSH3 | Eleanor Williams Added comment: Comment on list classification: There are now sufficient cases to promote this gene to green, following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.8 | MSH3 | Eleanor Williams Gene: msh3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.7 | MSH3 | Eleanor Williams Phenotypes for gene: MSH3 were changed from Familial adenomatous polyposis 4, OMIM:617100 to Familial adenomatous polyposis 4, OMIM:617100; familial adenomatous polyposis 4, MONDO:0044300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.6 | MSH3 | Eleanor Williams Publications for gene: MSH3 were set to 27476653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.5 | MSH3 | Eleanor Williams Tag Q3_25_promote_green tag was added to gene: MSH3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.5 | MSH3 |
Eleanor Williams changed review comment from: In OMIM MSH3 is associated with Endometrial carcinoma, somatic, OMIM:608089 and Familial adenomatous polyposis 4, OMIM:617100 (AR) (accessed 21st October 2025) MSH3 has a definitive association with familial adenomatous polyposis 4, MONDO:0044300 (last curated May 24, 2024). As reported by ClinGen, 19 variants (nonsense, frameshift, large deletion, splicing, missense) that have been reported in 10 probands in 6 publications (PMIDs 27476653, 37597744, 35675019, 38243056, 34250384, 37402566). This is also supported by expression studies, in vitro functional assays, and animal models (PMIDs: 18922920, 24013230, 10706084, 27476653). The mechanism of pathogenicity is known to be loss of function.; to: In OMIM MSH3 is associated with Endometrial carcinoma, somatic, OMIM:608089 and Familial adenomatous polyposis 4, OMIM:617100 (AR) (accessed 21st October 2025) MSH3 has a definitive association with familial adenomatous polyposis 4, MONDO:0044300 (last curated May 24, 2024). As reported by ClinGen: 19 variants (nonsense, frameshift, large deletion, splicing, missense) have been reported in 10 probands in 6 publications (PMIDs 27476653, 37597744, 35675019, 38243056, 34250384, 37402566). This is also supported by expression studies, in vitro functional assays, and animal models (PMIDs: 18922920, 24013230, 10706084, 27476653). The mechanism of pathogenicity is known to be loss of function. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v3.5 | MSH3 | Eleanor Williams reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476653, 37597744, 35675019, 38243056, 34250384, 37402566, 18922920, 24013230, 10706084, 27476653; Phenotypes: Familial adenomatous polyposis 4, OMIM:617100, familial adenomatous polyposis 4, MONDO:0044300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v1.22 | MSH3 | Arina Puzriakova Publications for gene: MSH3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v1.21 | MSH3 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Endometrial carcinoma, somatic (MIM# 608089) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v1.21 | MSH3 | Arina Puzriakova Phenotypes for gene: MSH3 were changed from to Familial adenomatous polyposis 4, OMIM:617100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.51 | MSH3 | Ivone Leong Added comment: Comment on mode of inheritance: Corrected the MOI. Changed Monoallelic to Biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.51 | MSH3 | Ivone Leong Mode of inheritance for gene: MSH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.42 | MSH3 | Ivone Leong Classified gene: MSH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.42 | MSH3 | Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber as cases in this gene is rare. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.42 | MSH3 | Ivone Leong Gene: msh3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.25 | MSH3 | Ivone Leong Mode of inheritance for gene: MSH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.10 | MSH3 | Ivone Leong Classified gene: MSH3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.10 | MSH3 | Ivone Leong Gene: msh3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.3 | MSH3 | Rachel Robinson reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476653; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited polyposis and early onset colorectal cancer - germline testing v0.2 | MSH3 |
Ivone Leong gene: MSH3 was added gene: MSH3 was added to Inherited polyposis. Sources: NHS GMS Mode of inheritance for gene: MSH3 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||