GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Lynch Syndrome      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer disorders category
Reported Pathogenic variants
Candidate Gene Information
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