Brugada Syndrome: Difference between revisions

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|BrS1
|BrS1
|#601144  
|#601144  
|SCN5A  
|''SCN5A''
|Na<sub>v</sub>1.5  
|Na<sub>v</sub>1.5  
|&alpha; subunit of I<sub>Na</sub> channel  
|''&alpha;'' 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
|&alpha;<sub>1C</sub> subunit of I<sub>Ca,L channel</sub>
|''&alpha;''<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>&beta;2b
|Ca<sub>v</sub>''&beta;''2b
|&beta;2b subunit of I<sub>Ca,L</sub> channel
|''&beta;''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>&beta;1
|Na<sub>v</sub>''&beta;''1
|&beta; subunit of I<sub>Na</sub> channel
|''&beta;'' 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)
|&beta; subunit of voltage-dependent K<sup>+</sup> channels
|''&beta;'' 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>&beta; 3
|Na<sub>v</sub>''&beta;'' 3
|&beta; subunit of I<sub>Na</sub> channel
|''&beta;'' subunit of I<sub>Na</sub> channel
|Loss of function of I<sub>to</sub>
|Loss of function of I<sub>Na</sub>
|-
|-
|NC  
|NC  
|#613123  
|#613123  
|''HCN4''
|HCN4  
|HCN4  
|HCN4
|''&alpha;'' subunit of I<sub>f</sub>
|&alpha; 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>&alpha;<sub>2</sub> &delta;-1
|Ca<sub>v</sub>''&alpha;''<sub>2</sub>''&delta;''-1
|</sub>&alpha;<sub>2</sub> &delta; subunit of I<sub>Ca,L</sub> channel
|</sub>''&alpha;''<sub>2</sub>''&delta;'' 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  
|MOG1
|Regulates trafficking of Na<sub>v</sub>1.5 to the membrance
|Regulates tra?cking of Na<sub>v</sub>1.5 to the membrance
|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
|&alpha; subunit of I<sub>to</sub> channel
|''&alpha;'' 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
|&beta; subunit of voltage-dependent K<sub>+</sub> channels
|''&beta;'' 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
|&alpha; subunit of I<sub>K,ATP</sub>
|''&alpha;'' 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
|
|
|SCN1B''b''  
|''SCN1Bb''  
|Na<sub>v</sub>&beta;1B
|Na<sub>v</sub>''&beta;''1B
|&beta; subunit of I<sub>Na</sub>
|''&beta;'' subunit of I<sub>Na</sub>
|Loss of function of I<sub>Na</sub> and gain of function of I<sub>to</sub>
|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.
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