Long QT Syndrome
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant 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 | SCN4B/6330 | sodium voltage-gated channel beta subunit 4 | 11q23.3 | Chr11, NC_000011.10 (118133377..118152823, complement) |
19447 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | KCNQ1/3784 | potassium voltage-gated channel subfamily Q member 1 | 11p15.5 | Chr11, NC_000011.10 (2445008..2849105) |
404098 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | AKAP9/10142 | A-kinase anchoring protein 9 | 7q21.2 | Chr7, NC_000007.14 (91940862..92110673) |
169812 nt | 51 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | KCNE2/9992 | potassium voltage-gated channel subfamily E regulatory subunit 2 | 21q22.11 | Chr21, NC_000021.9 (34364006..34371381) |
7376 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CAV3/859 | caveolin 3 | 3p25.3 | Chr3, NC_000003.12 (8733802..8746758) |
12957 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | SNTA1/6640 | syntrophin alpha 1 | 20q11.21 | Chr20, NC_000020.11 (33407957..33443763, complement) |
35807 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | KCNJ5/3762 | potassium inwardly rectifying channel subfamily J member 5 | 11q24.3 | Chr11, NC_000011.10 (128891356..128921163) |
29808 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | SCN5A/6331 | sodium voltage-gated channel alpha subunit 5 | 3p22.2 | Chr3, NC_000003.12 (38548062..38649687, complement) |
101626 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | KCNE1/3753 | potassium voltage-gated channel subfamily E regulatory subunit 1 | 21q22.12 | Chr21, NC_000021.9 (34446688..34512210, complement) |
65523 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | KCNH2/3757 | potassium voltage-gated channel subfamily H member 2 | 7q36.1 | Chr7, NC_000007.14 (150944961..150978321, complement) |
33361 nt | 20 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | ANK2/287 | ankyrin 2 | 4q26 | Chr4, NC_000004.12 (112705622..113383736) |
678115 nt | 61 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | CALM2/805 | calmodulin 2 | 2p21 | Chr2, NC_000002.12 (47160082..47176936, complement) |
16855 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | CACNA1C/775 | calcium voltage-gated channel subunit alpha1 C | 12p13.33 | Chr12, NC_000012.12 (1970780..2697950) |
727171 nt | 57 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | KCNJ2/3759 | potassium inwardly rectifying channel subfamily J member 2 | 17q24.3 | Chr17, NC_000017.11 (70169532..70180044) |
10513 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | RYR2/6262 | ryanodine receptor 2 | 1q43 | Chr1, NC_000001.11 (237042184..237833988) |
791805 nt | 107 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | TRPM4/54795 | transient receptor potential cation channel subfamily M member 4 | 19q13.33 | Chr19, NC_000019.10 (49157792..49211836) |
54045 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | CALM1/801 | calmodulin 1 | 14q32.11 | Chr14, NC_000014.9 (90396502..90408268) |
11767 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | PKP2/5318 | plakophilin 2 | 12p11.21 | Chr12, NC_000012.12 (32790755..32896777, complement) |
106023 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | CALM3/808 | calmodulin 3 | 19q13.32 | Chr19, NC_000019.10 (46601074..46610782) |
9709 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | MYPN/84665 | myopalladin | 10q21.3 | Chr10, NC_000010.11 (68087897..68212017) |
124121 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | RNF207/388591 | ring finger protein 207 | 1p36.31 | Chr1, NC_000001.11 (6206119..6221299) |
15181 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | CACNA1S/779 | calcium voltage-gated channel subunit alpha1 S | 1q32.1 | Chr1, NC_000001.11 (201039512..201112426, complement) |
72915 nt | 44 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | MYH6/4624 | myosin heavy chain 6 | 14q11.2 | Chr14, NC_000014.9 (23381987..23408273, complement) |
26287 nt | 39 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | MYBPC3/4607 | myosin binding protein C3 | 11p11.2 | Chr11, NC_000011.10 (47331406..47352702, complement) |
21297 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 25 | DSG2/1829 | desmoglein 2 | 18q12.1 | Chr18, NC_000018.10 (31498177..31549008) |
50832 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 26 | CTNNA3/29119 | catenin alpha 3 | 10q21.3 | Chr10, NC_000010.11 (65912523..67763594, complement) |
1851072 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |