GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Dilated Cardiomyopathy 1DD(RBM20 familial isolated dilated cardiomyopathy)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cardiovascular 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 RBM20/282996 RNA binding motif protein 20 10q25.2 Chr10, NC_000010.11
(110643245..110839468)
196224 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 TNNT2/7139 troponin T2, cardiac type 1q32.1 Chr1, NC_000001.11
(201359014..201377680, complement)
18667 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information       
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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