Restrictive Cardiomyopathy(Cardiomyopathies, Restrictive)
An Autosomal dominant, Autosomal recessive mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Cardiovascular 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 | 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 |
| 2 | MYH7/4625 | myosin heavy chain 7 | 14q11.2 | Chr14, NC_000014.9 (23412740..23435660, complement) |
22921 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | TNNI3/7137 | troponin I3, cardiac type | 19q13.42 | Chr19, NC_000019.10 (55151767..55157732, complement) |
5966 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | MYPN/84665 | myopalladin | 10q21.3 | Chr10, NC_000010.11 (68087897..68212017) |
124121 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | FLNC/2318 | filamin C | 7q32.1 | Chr7, NC_000007.14 (128830406..128859272) |
28867 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | PDLIM3/27295 | PDZ and LIM domain 3 | 4q35.1 | Chr4, NC_000004.12 (185500660..185535507, complement) |
34848 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | TTN/7273 | titin | 2q31.2 | Chr2, NC_000002.12 (178525989..178807423, complement) |
281435 nt | 364 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||