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Brugada Syndrome: Difference between revisions
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| Line 33: | Line 33: | ||
|BrS1 | |BrS1 | ||
|#601144 | |#601144 | ||
|SCN5A | |''SCN5A'' | ||
|Na<sub>v</sub>1.5 | |Na<sub>v</sub>1.5 | ||
|α subunit of I<sub>Na</sub> channel | |''α'' subunit of I<sub>Na</sub> channel | ||
|Loss of function of I<sub>Na</sub> | |Loss of function of I<sub>Na</sub> | ||
|- | |- | ||
|BrS2 | |BrS2 | ||
|#611777 | |#611777 | ||
|GPD1-L | |''GPD1-L'' | ||
|G3PD1L | |G3PD1L | ||
|Not fully established | |Not fully established | ||
| Line 47: | Line 47: | ||
|BrS3 | |BrS3 | ||
|#611875 | |#611875 | ||
|CACNA1C | |''CACNA1C'' | ||
|Ca<sub>v</sub>1.2 | |Ca<sub>v</sub>1.2 | ||
|α<sub>1C</sub> subunit of I<sub>Ca,L channel</sub> | |''α''<sub>1C</sub> subunit of I<sub>Ca,L channel</sub> | ||
|Loss of function of I<sub>Ca,L</sub> | |Loss of function of I<sub>Ca,L</sub> | ||
|- | |- | ||
|BrS4 | |BrS4 | ||
|#611876 | |#611876 | ||
|CACNB2b | |''CACNB2b'' | ||
|Ca<sub>v</sub>β2b | |Ca<sub>v</sub>''β''2b | ||
|β2b subunit of I<sub>Ca,L</sub> channel | |''β''2b subunit of I<sub>Ca,L</sub> channel | ||
| | |Loss of function of I<sub>Ca,L</sub> | ||
|- | |- | ||
|BrS5 | |BrS5 | ||
|#612838 | |#612838 | ||
|SCN1B | |''SCN1B'' | ||
|Na<sub>v</sub>β1 | |Na<sub>v</sub>''β''1 | ||
|β subunit of I<sub>Na</sub> channel | |''β'' subunit of I<sub>Na</sub> channel | ||
|Loss of function of I<sub>Na</sub> | |Loss of function of I<sub>Na</sub> | ||
|- | |- | ||
|BrS6 | |BrS6 | ||
|#613119 | |#613119 | ||
|KCNE3 | |''KCNE3'' | ||
|KCNE3 (MiRP2) | |KCNE3 (MiRP2) | ||
|β subunit of voltage-dependent K<sup>+</sup> channels | |''β'' subunit of voltage-dependent K<sup>+</sup> channels | ||
|Gain of function of I<sub>to</sub> | |Gain of function of I<sub>to</sub> | ||
|- | |- | ||
|BrS7 | |BrS7 | ||
|#613120 | |#613120 | ||
|SCN3B | |''SCN3B'' | ||
|Na<sub>v</sub>β 3 | |Na<sub>v</sub>''β'' 3 | ||
|β subunit of I<sub>Na</sub> channel | |''β'' subunit of I<sub>Na</sub> channel | ||
|Loss of function of I<sub> | |Loss of function of I<sub>Na</sub> | ||
|- | |- | ||
|NC | |NC | ||
|#613123 | |#613123 | ||
|''HCN4'' | |||
|HCN4 | |HCN4 | ||
| | |''α'' subunit of I<sub>f</sub> | ||
|Gain of function of I<sub>f</sub> | |Gain of function of I<sub>f</sub> | ||
|- | |- | ||
|NC | |NC | ||
| | | | ||
|CACNA2D1 | |''CACNA2D1'' | ||
|Ca<sub>v</sub>α<sub>2</sub> δ-1 | |Ca<sub>v</sub>''α''<sub>2</sub>''δ''-1 | ||
|</sub>α<sub>2</sub> δ subunit of I<sub>Ca,L</sub> channel | |</sub>''α''<sub>2</sub>''δ'' subunit of I<sub>Ca,L</sub> channel | ||
|Loss of function of I<sub>Ca,L</sub> | |Loss of function of I<sub>Ca,L</sub> | ||
|- | |- | ||
|NC | |NC | ||
| | | | ||
|''MOG1'' | |||
|MOG1 | |MOG1 | ||
|Regulates trafficking of Na<sub>v</sub>1.5 to the membrance | |||
|Regulates | |||
|Loss of function of I<sub>Na</sub> | |Loss of function of I<sub>Na</sub> | ||
|- | |- | ||
|NC | |NC | ||
| | | | ||
|KCND3 | |''KCND3'' | ||
|K<sub>v</sub>4.3 | |K<sub>v</sub>4.3 | ||
|α subunit of I<sub>to</sub> channel | |''α'' subunit of I<sub>to</sub> channel | ||
|Gain of function of I<sub>to</sub> | |Gain of function of I<sub>to</sub> | ||
|- | |- | ||
|NC | |NC | ||
| | | | ||
|KCNE1L (KCNE5) | |''KCNE1L<br /> (KCNE5)'' | ||
|KCNE1L | |KCNE1L | ||
|β subunit of voltage-dependent K<sub>+</sub> channels | |''β'' subunit of voltage-dependent K<sub>+</sub> channels | ||
|Gain of function of I<sub>to</sub> | |Gain of function of I<sub>to</sub> | ||
|- | |- | ||
|NC | |NC | ||
| | | | ||
|KCNJ8 | |''KCNJ8'' | ||
|K<sub>ir</sub>6.1 | |K<sub>ir</sub>6.1 | ||
|α subunit of I<sub>K,ATP</sub> | |''α'' subunit of I<sub>K,ATP</sub> | ||
|Gain of function of I<sub>K,ATP</sub> | |Gain of function of I<sub>K,ATP</sub> | ||
|- | |- | ||
|NC | |NC | ||
| | | | ||
| | |''SCN1Bb'' | ||
|Na<sub>v</sub>β1B | |Na<sub>v</sub>''β''1B | ||
|β subunit of I<sub>Na</sub> | |''β'' subunit of I<sub>Na</sub> | ||
|Loss of function of I<sub>Na</sub> and | |Loss of function of I<sub>Na</sub> and Gain of function of I<sub>to</sub> | ||
|- | |- | ||
|colspan="6" bgcolor="#99CCFF"|OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; BrS1–BrS7: Brugada syndrome types 1–7; NC: no consensus; I<sub>Ca,L</sub>: L-type calcium current; I<sub>f</sub>: hyperpolarization-activated current; I<sub>K,ATP</sub>: ATP-sensitive potassium current; I<sub>Na</sub>: fast sodium current; I<sub>to</sub>: transient outward potassium current. | |colspan="6" bgcolor="#99CCFF"|OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; BrS1–BrS7: Brugada syndrome types 1–7; NC: no consensus; I<sub>Ca,L</sub>: L-type calcium current; I<sub>f</sub>: hyperpolarization-activated current; I<sub>K,ATP</sub>: ATP-sensitive potassium current; I<sub>Na</sub>: fast sodium current; I<sub>to</sub>: transient outward potassium current. | ||