Newborns additional phenotypes panel 1
Gene: MSH6EnsemblGeneIds (GRCh38): ENSG00000116062
EnsemblGeneIds (GRCh37): ENSG00000116062
OMIM: 600678, Gene2Phenotype
MSH6 is in 39 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:7329Created: 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-5
- OMIM
- 600678
- Clinvar variants
- Variants in MSH6
- Penetrance
- None
- Panels with this gene
-
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Endometrial cancer pertinent cancer susceptibility
- Inherited polyposis and early onset colorectal cancer - germline testing
- Haematological malignancies cancer susceptibility
- Brain cancer pertinent cancer susceptibility
- Inherited MMR deficiency (Lynch syndrome)
- Genodermatoses with malignancies
- Familial rhabdomyosarcoma
- Haematological malignancies for rare disease
- Inherited prostate cancer
- Bladder cancer pertinent cancer susceptibility
- Inherited pancreatic cancer
- Inherited renal cancer
- Childhood solid tumours 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
- COVID-19 research
- Inherited ovarian cancer (without breast cancer)
- Prostate cancer pertinent cancer susceptibility
- Neurofibromatosis Type 1
- Fetal anomalies
- 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
- Pigmentary skin disorders
- Endocrine neoplasia
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Additional findings health related
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Hereditary nonpolyposis colorectal cancer-5 for gene: MSH6
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Hereditary nonpolyposis colorectal cancer-5 for gene: MSH6
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Red was added to MSH6. Added phenotypes Hereditary nonpolyposis colorectal cancer-5 for gene: MSH6 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 MSH6. 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: MSH6 was added gene: MSH6 was added to Newborns additional phenotypes panel. Sources: Expert Review Red Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MSH6 were set to Hereditary nonpolyposis colorectal cancer-5