Newborns additional phenotypes panel 1
Gene: MSH2EnsemblGeneIds (GRCh38): ENSG00000095002
EnsemblGeneIds (GRCh37): ENSG00000095002
OMIM: 609309, Gene2Phenotype
MSH2 is in 37 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
https://search.clinicalgenome.org/kb/genes/HGNC:7325Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hereditary nonpolyposis colorectal cancer-1
- OMIM
- 609309
- Clinvar variants
- Variants in MSH2
- Penetrance
- None
- Panels with this gene
-
- Inherited MMR deficiency (Lynch syndrome)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited prostate cancer
- Brain cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Pigmentary skin disorders
- Inherited polyposis and early onset colorectal cancer - germline testing
- Bladder cancer pertinent cancer susceptibility
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Multiple monogenic benign skin tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Upper gastrointestinal cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Childhood solid tumours
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Additional findings health related - CNV analysis adult specific
- Renal cancer pertinent cancer susceptibility
- GI tract tumours
- Sarcoma susceptibility
- Familial prostate cancer
- Additional findings health related - adult specific
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Inherited ovarian cancer (without breast cancer)
- Inherited non-medullary thyroid cancer
- Additional findings health related
History Filter Activity
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Hereditary nonpolyposis colorectal cancer-1 for gene: MSH2
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Hereditary nonpolyposis colorectal cancer-1 for gene: MSH2
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Red was added to MSH2. Added phenotypes Hereditary nonpolyposis colorectal cancer-1 for gene: MSH2 Rating Changed from No List (delete) to Red List (low evidence)
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Removed was added to MSH2. Rating Changed from Red List (low evidence) to No List (delete)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: MSH2 was added gene: MSH2 was added to Newborns additional phenotypes panel. Sources: Expert Review Red Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MSH2 were set to Hereditary nonpolyposis colorectal cancer-1