Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCC9 gene ABCC9 South West GLH;North West GLH;Literature Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27761167;24439875 False 1 0;0;100 14.21 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCC9 gene ABCC9 North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ventricular tachycardia;Atrial fibrillation, familial, 12 (614050);Cardiomyopathy, dilated, 1O (608569);short qt;atrial fibrillation 30420954;19862833;16301704 False 1 0;0;100 14.21 False Other ENSG00000069431 ENSG00000069431 HGNC:60 AKAP9 gene AKAP9 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-11 (611820);?Long QT syndrome-11 611820 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000127914 ENSG00000127914 HGNC:379 AKAP9 gene AKAP9 South West GLH;North West GLH;Expert Review Red;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-11 (611820);Long QT syndrome-11 25087618 False 1 0;0;100 14.21 False ENSG00000127914 ENSG00000127914 HGNC:379 ALG10 gene ALG10 South West GLH;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;25;75 14.21 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG10B gene ALG10B Other Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 14.21 False ENSG00000175548 ENSG00000175548 HGNC:31088 ALG10B gene ALG10B Other Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 14.21 False ENSG00000175548 ENSG00000175548 HGNC:31088 ANK2 gene ANK2 North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 4 (600919);Long QT syndrome 4 600919;Cardiac arrhythmia, ankyrin-B-related (600919);Cardiac arrhythmia, ankyrin-B-related 600919 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 South West GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 False 1 0;50;50 14.21 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 South West GLH;North West GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27761167;27818464 False 1 0;25;75 14.21 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Red;South West GLH;London South GLH;North West GLH;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-4 ;Cardiac arrhythmia, ankyrin-B-related (600919);Long QT syndrome 4 (600919) 12571597 False 1 43;57;0 14.21 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Red;NHS GMS Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome 4, 600919;Cardiac arrhythmia, ankyrin-B-related, 600919 31983240 False 1 33;0;67 14.21 False ENSG00000145362 ENSG00000145362 HGNC:493 CACNA1C gene CACNA1C South West GLH;London South GLH;Expert Review Red;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 3, MONDO:0012742 False 1 0;0;100 14.21 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA2D1 gene CACNA2D1 South West GLH;London South GLH;North West GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology Unknown Brugada syndrome, MONDO:0015263 17224476;20817017;27761167 False 1 0;0;100 14.21 False ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology Unknown Brugada syndrome 4 (611876) 17224476;27761167 False 1 0;25;75 14.21 False ENSG00000165995 ENSG00000165995 HGNC:1402 CALM1 gene CALM1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 14 (616247);Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 14.21 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology False 1 0;0;100 14.21 False ENSG00000160014 ENSG00000160014 HGNC:1449 CAV3 gene CAV3 Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 14.21 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 South West GLH;London South GLH;Expert Review Red;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-9 17060380 False 1 17;17;67 14.21 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 South West GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;50;50 14.21 False ENSG00000182533 ENSG00000182533 HGNC:1529 DLG1 gene DLG1 Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology False 1 0;0;100 14.21 False ENSG00000075711 ENSG00000075711 HGNC:2900 DLG1 gene DLG1 Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 14.21 False ENSG00000075711 ENSG00000075711 HGNC:2900 GPD1L gene GPD1L North West GLH;Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2 (611777) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000152642 ENSG00000152642 HGNC:28956 GPD1L gene GPD1L Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cardiac arrhythmias Cardiology Unknown Brugada syndrome 2, OMIM:611777 27761167;19666841 False 1 0;25;75 14.21 False ENSG00000152642 ENSG00000152642 HGNC:28956 HCN4 gene HCN4 North West GLH;Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sick sinus syndrome 2 (163800);Brugada syndrome 8 (613123) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000138622 ENSG00000138622 HGNC:16882 HCN4 gene HCN4 Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 8, OMIM:613123 27761167 False 1 25;0;75 14.21 False ENSG00000138622 ENSG00000138622 HGNC:16882 KCND3 gene KCND3 South West GLH;London South GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 9, OMIM:616399 False 1 0;0;100 14.21 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCND3 gene KCND3 Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology False 1 0;0;100 14.21 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE1 gene KCNE1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695 16301704;26168993 False 1 50;0;50 14.21 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE1 gene KCNE1 South West GLH;Literature Cardiac arrhythmias Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 16818210; doi:10. 1007/ s12265-016-9673-5 False 1 0;0;100 14.21 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 (613693);Atrial fibrillation, familial, 4 (611493) 16301704 False 1 50;0;50 14.21 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Cardiac arrhythmias Cardiology Unknown ?Brugada syndrome 6, OMIM:613119 19122847;27761167 False 1 0;25;75 14.21 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE3 gene KCNE3 South West GLH;Literature Cardiac arrhythmias Cardiology Unknown Long QT syndrome; Brugada syndrome 19306396;doi:10. 1007/ s12265-016-9673-5;19306396 False 1 0;0;100 14.21 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE3 gene KCNE3 North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Brugada syndrome 6 (613119) 16301704 False 1 0;50;50 14.21 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology Unknown Brugada syndrome, MONDO:0015263 29350269;30289750 False 1 0;0;100 14.21 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNE5 gene KCNE5 Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology atrial fibrillation;Brugada syndrome 29350269 False 1 0;0;100 14.21 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNH2 gene KCNH2 Expert Review Red;South West GLH;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 16043162;19174314;18692916 False 1 17;17;67 14.21 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 South West GLH;North West GLH;UKGTN;Expert list Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 27761157 False 1 0;0;100 14.21 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Red;South West GLH;London South GLH;North West GLH;UKGTN;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485);Long QT syndrome 13 19716085 False 1 29;29;43 14.21 True ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ5 gene KCNJ5 North West GLH;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 South West GLH;London South GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 14.21 False ENSG00000121361 ENSG00000121361 HGNC:6269 KCNJ8 gene KCNJ8 Expert Review Red;Brugada syndrome (Version 1.7);Literature Cardiac arrhythmias Cardiology Unknown short qt;ventricular tachycardia;atrial fibrillation 21383000;15569843;27283775 False 1 0;0;100 14.21 False Other ENSG00000121361 ENSG00000121361 HGNC:6269 LRP5 gene LRP5 Expert Review Red;Literature Cardiac arrhythmias Cardiology Unknown short qt 30309679 False 1 0;0;100 14.21 False Other ENSG00000162337 ENSG00000162337 HGNC:6697 MLIP gene MLIP Literature Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138;Arrhythmia, HP:0011675 26436652;32719146;33802236;34581780;34935254 False 1 0;0;100 14.21 False ENSG00000146147 ENSG00000146147 HGNC:21355 NOS1AP gene NOS1AP South West GLH;Expert list Cardiac arrhythmias Cardiology Unknown False 1 0;33;67 14.21 False ENSG00000198929 ENSG00000198929 HGNC:16859 NOS1AP gene NOS1AP Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology False 1 0;0;100 14.21 False ENSG00000198929 ENSG00000198929 HGNC:16859 PKP2 gene PKP2 South West GLH;London South GLH;North West GLH;Literature Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27085656;27761167 False 1 0;0;100 14.21 False ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 North West GLH;Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 9 (609040) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000057294 ENSG00000057294 HGNC:9024 RANGRF gene RANGRF Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology False 1 0;0;100 14.21 False ENSG00000108961 ENSG00000108961 HGNC:17679 RANGRF gene RANGRF South West GLH;London South GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;33;67 14.21 False ENSG00000108961 ENSG00000108961 HGNC:17679 RYR2 gene RYR2 North West GLH;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 South West GLH;London South GLH;Literature Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Long QT syndrome; Catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular cardiomyopathy; 21126784; doi:10. 1007/ s12265-016-9673-5 False 1 0;67;33 14.21 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN10A gene SCN10A North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown J wave syndrome;short QT;Episodic pain syndrome, familial, 2 (615551);sudden death 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN10A gene SCN10A Expert Review Red;South West GLH;London South GLH;North West GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology Unknown Brugada syndrome, MONDO:0015263 24998131;27761167 False 1 25;0;75 14.21 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction defect, nonspecific, OMIM:612838;Brugada syndrome 5, OMIM:612838;Atrial fibrillation, familial, 13, OMIM:615377 25253298;27761167 False 1 25;0;75 14.21 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN1B gene SCN1B North West GLH;Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction defect, nonspecific, OMIM:612838;Brugada syndrome 5, OMIM:612838;Atrial fibrillation, familial, 13, OMIM:615377 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2B gene SCN2B Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 14.21 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN2B gene SCN2B Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology False 1 0;0;0 14.21 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN3B gene SCN3B Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 7, OMIM:613120 23257389;27761167 False 1 25;0;75 14.21 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN3B gene SCN3B North West GLH;Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B South West GLH;London South GLH;North West GLH;Expert Review Red;UKGTN;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-10 ;Long QT syndrome-10 (611819) 17592081 False 1 0;14;86 14.21 False Other - please provide details in the comments ENSG00000177098 ENSG00000177098 HGNC:10592 SCN4B gene SCN4B North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000177098 ENSG00000177098 HGNC:10592 SLC22A5 gene SLC22A5 Expert Review Red;West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;Literature Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 7254270;7131143;26190315;29198778;10545605;11261427 False 1 29;29;43 14.21 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLMAP gene SLMAP Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology False 1 0;0;0 14.21 False ENSG00000163681 ENSG00000163681 HGNC:16643 SLMAP gene SLMAP South West GLH;Expert Review Red;Expert list Cardiac arrhythmias Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 14.21 False ENSG00000163681 ENSG00000163681 HGNC:16643 SNTA1 gene SNTA1 Expert Review Red;South West GLH;London South GLH;North West GLH;UKGTN;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 612955;Long QT syndrome 12 (612955) 19684871 False 1 17;33;50 14.21 True ENSG00000101400 ENSG00000101400 HGNC:11167 SNTA1 gene SNTA1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 (612955) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000101400 ENSG00000101400 HGNC:11167 TRPM4 gene TRPM4 Expert Review Red;South West GLH;North West GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 23382873;27761167 False 1 25;0;75 14.21 False ENSG00000130529 ENSG00000130529 HGNC:17993 TRPM4 gene TRPM4 North West GLH;Brugada syndrome (Version 1.7) Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive familial heart block, type IB (604559) 30420954;19862833;16301704 False 1 0;0;100 14.21 False ENSG00000130529 ENSG00000130529 HGNC:17993