Lynch Syndrome Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cancer disorders category
Reported Pathogenic variants
S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
1 | MSH2/4436 | mutS homolog 2 | 2p21 | Chr2, NC_000002.12 (47403067..47709830) |
306764 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | MSH6/2956 | mutS homolog 6 | 2p16.3 | Chr2, NC_000002.12 (47783145..47810101) |
26957 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | PMS2/5395 | PMS1 homolog 2, mismatch repair system component | 7p22.1 | Chr7, NC_000007.14 (5970925..6009106, complement) |
38182 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | EPCAM/4072 | epithelial cell adhesion molecule | 2p21 | Chr2, NC_000002.12 (47369311..47387020) |
17710 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
5 | MLH1/4292 | mutL homolog 1 | 3p22.2 | Chr3, NC_000003.12 (36993466..37050846) |
57381 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
6 | MLH3/27030 | mutL homolog 3 | 14q24.3 | Chr14, NC_000014.9 (75013775..75051467, complement) |
37693 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
7 | RB1/5925 | RB transcriptional corepressor 1 | 13q14.2 | Chr13, NC_000013.11 (48303751..48481890) |
178140 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
8 | PALB2/79728 | partner and localizer of BRCA2 | 16p12.2 | Chr16, NC_000016.10 (23603165..23641310, complement) |
38146 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
9 | ATM/472 | ATM serine/threonine kinase | 11q22.3 | Chr11, NC_000011.10 (108223067..108369102) |
146036 nt | 67 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
10 | CHEK2/11200 | checkpoint kinase 2 | 22q12.1 | Chr22, NC_000022.11 (28687743..28741834, complement) |
54092 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |