5.024
bewerkingen
→Aangeboren LQTS
| Regel 26: | Regel 26: | ||
| chromosoom | | chromosoom | ||
| gen (met [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM] links) | | gen (met [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM OMIM] links) | ||
| eiwit | | eiwit | ||
| ionkanaal | |||
| frequentie | | frequentie | ||
| SCD incidentie | | SCD incidentie | ||
| Regel 37: | Regel 38: | ||
| 11p15 | | 11p15 | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542&rn=1 KCNQ1] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607542&rn=1 KCNQ1] | ||
| KvLQT1 | | KvLQT1 | ||
| I''ks'' | |||
| ~50% | | ~50% | ||
| 0.30%/jaar | | 0.30%/jaar | ||
| Regel 48: | Regel 50: | ||
| 7q35 | | 7q35 | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427 KCNH2] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152427 KCNH2] | ||
| hERG | | hERG | ||
| I''kr'' | |||
| 30-40% | | 30-40% | ||
| 0.60%/jaar | | 0.60%/jaar | ||
| Regel 60: | Regel 63: | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163 SCN5A] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600163 SCN5A] | ||
| NA kanaal | | NA kanaal | ||
| | |||
| 5-10% | | 5-10% | ||
| 0.56%/jaar | | 0.56%/jaar | ||
| Regel 71: | Regel 75: | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410 ANK2] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106410 ANK2] | ||
| Ankyrin B | | Ankyrin B | ||
| | |||
| <1% | | <1% | ||
| | | | ||
| Regel 81: | Regel 86: | ||
| 21q22 | | 21q22 | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261 KCNE1] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176261 KCNE1] | ||
| minK | | minK | ||
| I''ks'' | |||
| <1% | | <1% | ||
| | | | ||
| Regel 92: | Regel 98: | ||
| 21q22 | | 21q22 | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796 KCNE2] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796 KCNE2] | ||
| MiRP1 | | MiRP1 | ||
| I''kr'' | |||
| <1% | | <1% | ||
| | | | ||
| Regel 103: | Regel 110: | ||
| 17q23 | | 17q23 | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681 KCNJ2] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600681 KCNJ2] | ||
| Kir 2.1 | | Kir 2.1 | ||
| I''k1'' | |||
| <1% | | <1% | ||
| | | | ||
| Regel 115: | Regel 123: | ||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205 CACNA1C] | | [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114205 CACNA1C] | ||
| (ICa-L) | | (ICa-L) | ||
| | |||
| <1% | | <1% | ||
| | | | ||
| Regel 121: | Regel 130: | ||
| | | | ||
| Timothy Syndroom | | Timothy Syndroom | ||
|- | |||
! LQTS9 | |||
| 3p25.3 | |||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796 KCNE2] | |||
| Caveolin 3 | |||
| | |||
| <1% | |||
| | |||
| | |||
| | |||
| | |||
| | |||
|- | |||
! LQTS10 | |||
| 11q23.3 | |||
| [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603796 KCNE2] | |||
| Navb4 | |||
| | |||
| <1% | |||
| | |||
| | |||
| | |||
| | |||
| | |||
|} | |} | ||