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 AARS2 gene AARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;67;33 21.433 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCC9 gene ABCC9 North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False Other ENSG00000069431 ENSG00000069431 HGNC:60 ABCC9 gene ABCC9 South West GLH;North West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27761167;24439875 False 1 0;0;100 21.433 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCC9 gene ABCC9 Expert Review Red;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1O (608569);Dilated Cardiomyopathy, Dominant;Cardiomyopathy, dilated, 1O;Atrial fibrillation, familial, 12 (614050) 15034580;27532257 False 1 0;33;67 21.433 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCG2 gene ABCG2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Primary idiopathic gout (Disorders of purine metabolism);[Junior blood group system] 614490;[Uric acid concentration, serum, QTL1] 138900 27604308 False 1 0;0;100 21.433 False ENSG00000118777 ENSG00000118777 HGNC:74 ACADVL gene ACADVL South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 21.433 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT2 gene ACAT2 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown ?ACAT2 deficiency, OMIM:614055;Increased serum lactate and pyruvate;High levels of ketones;Low levels of cytosolic acetoacetyl-CoA thiolase;Hypotonia;Severe developmental delay 33340416;20597;6150136 False 1 0;100;0 21.433 False ENSG00000120437 ENSG00000120437 HGNC:94 ACTA1 gene ACTA1 South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Dilated cardiomyopathy 16945537; doi:10. 1007/ s12265-016-9673-5 False 1 0;100;0 21.433 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTN2 gene ACTN2 NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 1 0;0;100 21.433 False ENSG00000077522 ENSG00000077522 HGNC:164 ADGRV1 gene ADGRV1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Febrile seizures, familial, 4, 604352;Usher syndrome, type 2C, 605472;Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 False 1 0;100;0 21.433 False ENSG00000164199 ENSG00000164199 HGNC:17416 ADRA2B gene ADRA2B Expert Review Red;NHS GMS;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical myoclonus and epilepsy 11701600;18231815;24114805;31664034 False 1 0;67;33 21.433 False ENSG00000222040 ENSG00000274286 HGNC:282 AGL gene AGL South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 21.433 False ENSG00000162688 ENSG00000162688 HGNC:321 AGMO gene AGMO Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;epilepsy;generalized tonic-clonic seizures 31555905;27000257 False 1 0;100;0 21.433 False ENSG00000187546 ENSG00000187546 HGNC:33784 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-11 (611820);Long QT syndrome-11 25087618 False 1 0;0;100 21.433 False ENSG00000127914 ENSG00000127914 HGNC:379 AKAP9 gene AKAP9 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000127914 ENSG00000127914 HGNC:379 AKT1 gene AKT1 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteus syndrome, somatic 176920 23992099;21793738 False 1 50;25;25 21.433 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142208 ENSG00000142208 HGNC:391 ALDH1B1 gene ALDH1B1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;100;0 21.433 False ENSG00000137124 ENSG00000137124 HGNC:407 ALG10 gene ALG10 South West GLH;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;25;75 21.433 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG10 gene ALG10 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;100 21.433 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG10B gene ALG10B Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 21.433 False ENSG00000175548 ENSG00000175548 HGNC:31088 ALG10B gene ALG10B Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 21.433 False ENSG00000175548 ENSG00000175548 HGNC:31088 ALG12 gene ALG12 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143 False 1 0;33;67 21.433 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG2 gene ALG2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation type Ii, 607906;Myasthenic syndrome congenital 14 with tubular aggregates, 616228 12684507 False 1 0;33;67 21.433 False ENSG00000119523 ENSG00000119523 HGNC:23159 AMPD1 gene AMPD1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myoadenylate deaminase deficiency (Disorders of purine metabolism);Myopathy due to myoadenylate deaminase deficiency 615511 27604308 False 1 50;0;50 21.433 False ENSG00000116748 ENSG00000116748 HGNC:468 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 Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 30929919 False 1 0;0;100 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 South West GLH;North West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27761167;27818464 False 1 0;25;75 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 South West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 False 1 0;50;50 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD1 gene ANKRD1 NHS GMS;Expert Review Red;South West GLH;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant False 1 0;50;50 21.433 False ENSG00000148677 ENSG00000148677 HGNC:15819 ANKRD1 gene ANKRD1 South West GLH;London South GLH;Expert list;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;33;67 21.433 False ENSG00000148677 ENSG00000148677 HGNC:15819 AOX1 gene AOX1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Xanthinuria type II (Disorders of purine metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000138356 ENSG00000138356 HGNC:553 APOPT1 gene APOPT1 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 False 1 50;0;50 21.433 False ENSG00000256053 ENSG00000256053 HGNC:20492 ATAD3B gene ATAD3B Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Influence on AIDS progression;No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000160072 ENSG00000160072 HGNC:24007 ATP5C1 gene ATP5C1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000165629 ENSG00000165629 HGNC:833 ATP5E gene ATP5E South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown syndromic HCM False 1 0;50;50 21.433 False ENSG00000124172 ENSG00000124172 HGNC:838 ATP5G1 gene ATP5G1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000135390 ENSG00000135390 HGNC:842 ATP5I gene ATP5I Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000154723 ENSG00000154723 HGNC:847 ATXN7 gene ATXN7 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Other Spinocerebellar ataxia 7, OMIM:164500;Mitochondrial respiratory chain disorders (caused by nuclear variants only) 27604308 False 1 0;0;100 21.433 False ENSG00000163635 ENSG00000163635 HGNC:10560 B3GAT3 gene B3GAT3 NHS GMS;Expert Review Red;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600;B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 1 0;0;100 21.433 False ENSG00000149541 ENSG00000149541 HGNC:923 BCAT1 gene BCAT1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;100 21.433 False ENSG00000060982 ENSG00000060982 HGNC:976 BCORL1 gene BCORL1 Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability and seizures;Shukla-Vernon syndrome, 301029 30941876;24123876 False 1 0;50;50 21.433 False ENSG00000085185 ENSG00000085185 HGNC:25657 BCS1L gene BCS1L Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000 False 1 67;0;33 21.433 False ENSG00000074582 ENSG00000074582 HGNC:1020 BET1 gene BET1 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, MONDO:0005027 34779586 False 1 50;0;50 21.433 False ENSG00000105829 ENSG00000105829 HGNC:14562 BOLA1 gene BOLA1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA2 gene BOLA2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000183336 ENSG00000183336 HGNC:29488 BRAF gene BRAF South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 21.433 False ENSG00000157764 ENSG00000157764 HGNC:1097 BTK gene BTK NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000010671 ENSG00000010671 HGNC:1133 C1GALT1C1 gene C1GALT1C1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Other - please specify in evaluation comments COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tn polyagglutination syndrome, somatic;Tn polyagglutination syndrome, somatic 300622 27604308;19778426;27536663 False 1 0;0;0 21.433 False ENSG00000171155 ENSG00000171155 HGNC:24338 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 3, MONDO:0012742 False 1 0;0;100 21.433 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA2D1 gene CACNA2D1 South West GLH;London South GLH;North West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome, MONDO:0015263 17224476;20817017;27761167 False 1 0;0;100 21.433 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome 4 (611876) 17224476;27761167 False 1 0;25;75 21.433 False ENSG00000165995 ENSG00000165995 HGNC:1402 CACNB4 gene CACNB4 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682;{Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682;Episodic ataxia, type 5 OMIM:613855;Intellectual disability 20561025;20378313;10762541;32176688;25529582 False 1 0;27;73 21.433 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAD gene CAD Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;0;0 21.433 False ENSG00000084774 ENSG00000084774 HGNC:1424 CALM1 gene CALM1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 21.433 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000160014 ENSG00000160014 HGNC:1449 CALR3 gene CALR3 South West GLH;Expert list;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Cardiomyopathy, familial hypertrophic, 19 False 1 0;50;50 21.433 False ENSG00000269058 ENSG00000269058 HGNC:20407 CAMK2G gene CAMK2G Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy 30109124;28388656 False 1 0;67;33 21.433 False ENSG00000148660 ENSG00000148660 HGNC:1463 CAMLG gene CAMLG Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 21.433 False ENSG00000164615 ENSG00000164615 HGNC:1471 CAMLG gene CAMLG Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 21.433 False ENSG00000164615 ENSG00000164615 HGNC:1471 CASQ2 gene CASQ2 South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Left ventricular non-compaction; Catecholaminergic polymorphic ventricular tachycardia False 1 0;0;100 21.433 False ENSG00000118729 ENSG00000118729 HGNC:1513 CASR gene CASR Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of} False 1 0;50;50 21.433 False ENSG00000036828 ENSG00000036828 HGNC:1514 CAV3 gene CAV3 Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 21.433 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 South West GLH;London South GLH;Expert Review Red;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, False 1 0;33;67 21.433 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-9 17060380 False 1 17;17;67 21.433 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 South West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;50;50 21.433 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN4 gene CAVIN4 South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;100;0 21.433 False ENSG00000170681 ENSG00000170681 HGNC:33742 CBL gene CBL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology 24463883 False 1 0;33;67 21.433 False ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC186 gene CCDC186 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy 33259146;28600779 False 1 0;0;100 21.433 False ENSG00000165813 ENSG00000165813 HGNC:24349 CCND2 gene CCND2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 24705253 False 1 0;33;67 21.433 True ENSG00000118971 ENSG00000118971 HGNC:1583 CEP89 gene CEP89 Expert Review Red;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems PMID: 23575228 False 1 50;0;50 21.433 False ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [High density lipoprotein cholesterol level QTL 10] 143470;Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism);Hyperalphalipoproteinemia 143470 27604308 False 1 0;0;100 21.433 False ENSG00000087237 ENSG00000087237 HGNC:1869 CHMP3 gene CHMP3 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Complex spastic quadriplegia associated with developmental delay and seizures 35710109 False 1 0;0;0 21.433 False ENSG00000115561 ENSG00000115561 HGNC:29865 CHRM1 gene CHRM1 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental delay;intellectual disability, MONDO:0001071;autism 34212451;31981491;12483218 False 1 0;100;0 21.433 False ENSG00000168539 ENSG00000168539 HGNC:1950 CLCN2 gene CLCN2 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;NIHRBR-RD Consortium SPEED_v3.0_20170404;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, juvenile myoclonic, susceptibility to, 8}, OMIM:607628;{Epilepsy, juvenile absence, susceptibility to, 2}, OMIM:607628;{Epilepsy, idiopathic generalized, susceptibility to, 11}, OMIM:607628 23707145;19191339;20037607;19710712 False 1 0;67;33 21.433 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN6 gene CLCN6 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 29667327;26658788;25794116 False 1 0;50;50 21.433 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLCN6 gene CLCN6 Expert Review Red;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 29667327;26658788;25794116;21107136;33217309;16950870 False 1 0;0;100 21.433 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLN5 gene CLN5 Wessex and West Midlands GLH;NHS GMS;Expert;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;33;67 21.433 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLPS gene CLPS London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000137392 ENSG00000137392 HGNC:2085 CNDP1 gene CNDP1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Carnosinaemia (Other disorders of peptide metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000150656 ENSG00000150656 HGNC:20675 COA1 gene COA1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000106603 ENSG00000106603 HGNC:21868 COA5 gene COA5 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 21.433 False ENSG00000183513 ENSG00000183513 HGNC:33848 COA5 gene COA5 Expert Review Red;London North GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 27604308;21457908 False 1 50;50;0 21.433 False ENSG00000183513 ENSG00000183513 HGNC:33848 COA7 gene COA7 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 27683825;29718187 False 1 50;0;50 21.433 False ENSG00000162377 ENSG00000162377 HGNC:25716 COG2 gene COG2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;0 21.433 False ENSG00000135775 ENSG00000135775 HGNC:6546 COX5B gene COX5B Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX6A1 gene COX6A1 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 1 50;0;50 21.433 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6C gene COX6C Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A2 gene COX7A2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7B2 gene COX7B2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;100;0 21.433 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7C gene COX7C Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 PMID: 26685157 False 1 100;0;0 21.433 False ENSG00000176340 ENSG00000176340 HGNC:2294 CPA6 gene CPA6 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial temporal lobe, 5 614417 AR, AD;Febrile seizures, familial, 11 614418 21922598;23105115 False 1 25;38;38 21.433 False ENSG00000165078 ENSG00000165078 HGNC:17245 CPS1 gene CPS1 NHS GMS;Expert Review Red;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency;Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) 24816252;27604308 False 1 0;0;100 21.433 False ENSG00000021826 ENSG00000021826 HGNC:2323 CRH gene CRH Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;17;83 21.433 False ENSG00000147571 ENSG00000147571 HGNC:2355 CRYAB gene CRYAB South West GLH;London South GLH;Radboud University Medical Center, Nijmegen;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, OMIM:608810 False 1 0;33;67 21.433 False ENSG00000109846 ENSG00000109846 HGNC:2389 CSNK2A1 gene CSNK2A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Okur-Chung neurodevelopmental syndrome, OMIM:617062 30655572;27048600 False 1 0;67;33 21.433 False ENSG00000101266 ENSG00000101266 HGNC:2457 CTF1 gene CTF1 NHS GMS;South West GLH;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 21.433 False ENSG00000150281 ENSG00000150281 HGNC:2499 CTNNA3 gene CTNNA3 South West GLH;Expert Review Red;Radboud University Medical Center, Nijmegen;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia, familial, 13, False 1 0;0;100 21.433 False ENSG00000183230 ENSG00000183230 HGNC:2511 CYC1 gene CYC1 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6, 615453 False 1 50;0;50 21.433 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYP7A1 gene CYP7A1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis);Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 27604308 False 1 0;0;100 21.433 False ENSG00000167910 ENSG00000167910 HGNC:2651 DES gene DES South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;100;0 21.433 False ENSG00000175084 ENSG00000175084 HGNC:2770 DHCR7 gene DHCR7 NHS GMS;Expert Review Red;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cataracts;Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis);Disorders of sex development;IUGR and IGF abnormalities;Intellectual disability 27604308 False 1 0;0;100 21.433 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHFR2 gene DHFR2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown 21876184 False 1 0;0;100 21.433 False ENSG00000178700 ENSG00000178700 HGNC:27309 DLG1 gene DLG1 Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 21.433 False ENSG00000075711 ENSG00000075711 HGNC:2900 DLG1 gene DLG1 Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000075711 ENSG00000075711 HGNC:2900 DLST gene DLST London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype?Familial Alzheimer disease 27604308;12805207;1943690 False 1 0;50;50 21.433 False ENSG00000119689 ENSG00000119689 HGNC:2911 DMBX1 gene DMBX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal global developmental delay, intellectual disability, and epilepsy 25558065 False 1 0;67;33 21.433 False ENSG00000197587 ENSG00000197587 HGNC:19026 DMGDH gene DMGDH London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Dimethylglycine dehydrogenase deficiency 605850;Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308;18937046 - functional study expressing the variant form in E.coli showed a decrease in activity;11231903 - case study False 1 0;0;100 21.433 False ENSG00000132837 ENSG00000132837 HGNC:24475 DPEP1 gene DPEP1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) 27604308 False 1 0;0;100 21.433 False ENSG00000015413 ENSG00000015413 HGNC:3002 DTD1 gene DTD1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;0;0 21.433 False ENSG00000125821 ENSG00000125821 HGNC:16219 DTNA gene DTNA NHS GMS;South West GLH;London South GLH;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 1, with or without congenital heart defects, False 1 0;0;100 21.433 False ENSG00000134769 ENSG00000134769 HGNC:3057 ECSIT gene ECSIT Expert Review Red;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000130159 ENSG00000130159 HGNC:29548 EGF gene EGF London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000138798 ENSG00000138798 HGNC:3229 EIF2A gene EIF2A Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Seizures;ASD 31130284 False 1 0;0;100 21.433 False ENSG00000144895 ENSG00000144895 HGNC:3254 ERCC6L2 gene ERCC6L2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;0;0 21.433 False ENSG00000182150 ENSG00000182150 HGNC:26922 ETFA gene ETFA NHS GMS;Expert Review Red;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);Glutaric acidemia IIA;Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia;Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation);HCM 27604308 False 1 50;0;50 21.433 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB NHS GMS;Expert Review Red;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB;Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia;Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation);HCM 27604308 False 1 50;0;50 21.433 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH NHS GMS;Expert Review Red;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;GLUTARIC ACIDURIA TYPE 2C;Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation);Glutaric acidemia IIC;Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia;HCM 24816252;27604308 False 1 50;0;50 21.433 False ENSG00000171503 ENSG00000171503 HGNC:3483 EYA4 gene EYA4 Expert Review Red;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;South West GLH;London South GLH;North West GLH;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cardiomyopathy, dilated, 1J, OMIM:605362 27532257;15735644 False 1 0;33;67 21.433 False ENSG00000112319 ENSG00000112319 HGNC:3522 EYA4 gene EYA4 Expert Review Red;NHS GMS;South West GLH;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cardiomyopathy, dilated, 1J, OMIM:605362 False 1 0;67;33 21.433 False ENSG00000112319 ENSG00000112319 HGNC:3522 FAR1 gene FAR1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;30561787;33239752 False 1 0;0;100 21.433 False ENSG00000197601 ENSG00000197601 HGNC:26222 FBP2 gene FBP2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown isolated lactic acidosis False 1 0;0;0 21.433 False ENSG00000130957 ENSG00000130957 HGNC:3607 FGFR3 gene FGFR3 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 39472908 False 1 0;0;100 21.433 False ENSG00000068078 ENSG00000068078 HGNC:3690 FHOD3 gene FHOD3 Expert Review Red;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000134775 ENSG00000134775 HGNC:26178 FIG4 gene FIG4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;67;33 21.433 False ENSG00000112367 ENSG00000112367 HGNC:16873 FLNC gene FLNC NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 1 0;0;100 21.433 False ENSG00000128591 ENSG00000128591 HGNC:3756 FOLR2 gene FOLR2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown 14711912;19587340 False 1 0;0;100 21.433 False ENSG00000165457 ENSG00000165457 HGNC:3793 FOLR3 gene FOLR3 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown 8110752 False 1 0;0;100 21.433 False ENSG00000110203 ENSG00000110203 HGNC:3795 FOXRED1 gene FOXRED1 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown syndromic HCM False 1 0;50;50 21.433 False ENSG00000110074 ENSG00000110074 HGNC:26927 FTL gene FTL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal L-ferritin deficiency, dominant and recessive 615604 23940258 False 1 0;50;50 21.433 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUT2 gene FUT2 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39350204 False 1 0;0;0 21.433 False ENSG00000176920 ENSG00000176920 HGNC:4013 FXN gene FXN South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 0;50;50 21.433 False Other - please provide details in the comments ENSG00000165060 ENSG00000165060 HGNC:3951 FXYD2 gene FXYD2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal 154020;Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000137731 ENSG00000137731 HGNC:4026 GAA gene GAA South West GLH;London South GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;67;33 21.433 False ENSG00000171298 ENSG00000171298 HGNC:4065 GAL gene GAL Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Epilepsy, familial temporal lobe, 8 616461 25691535 False 1 0;67;33 21.433 False ENSG00000069482 ENSG00000069482 HGNC:4114 GALNS gene GALNS NHS GMS;Expert Review Red;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis Type IVA;MUCOPOLYSACCHARIDOSIS TYPE 4A;Mucopolysaccharidosis, Type IV;MPS IVA, Morquio A disease (MPS IV, Morquio disease) 27604308 False 1 50;0;50 21.433 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT12 gene GALNT12 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies));GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);{Colorectal cancer, susceptibility to, 1} 608812 27604308 False 1 0;0;100 21.433 False ENSG00000119514 ENSG00000119514 HGNC:19877 GATAD1 gene GATAD1 Expert Review Red;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000157259 ENSG00000157259 HGNC:29941 GATAD2B gene GATAD2B Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology Willemsen et al (2013) J Med Genet 50:507 514 False 1 0;17;83 21.433 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATB gene GATB Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 False 1 0;0;100 21.433 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATM gene GATM Wessex and West Midlands GLH;NHS GMS;Expert;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, OMIM:612718 26490222;11555793 False 1 0;14;86 21.433 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBE1 gene GBE1 NHS GMS;Expert Review Red;MetBioNet;MetBioNet;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 27604308 False 1 33;33;33 21.433 False ENSG00000114480 ENSG00000114480 HGNC:4180 GGT1 gene GGT1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Gamma-glutamyl transpeptidase deficiency;Glutathionuria (Disorders of the gamma-glutamyl cycle) 27604308;24816252 False 1 0;0;100 21.433 False ENSG00000100031 ENSG00000100031 HGNC:4250 GJA5 gene GJA5 South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 22247482 False 1 0;33;67 21.433 False ENSG00000143140 ENSG00000265107 HGNC:4279 GLB1 gene GLB1 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 21.433 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLRA1 gene GLRA1 NHS GMS;Expert Review Red;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 False 1 0;0;100 21.433 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 21391991 False 1 0;17;83 21.433 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNB2 gene GNB2 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 34124757 False 1 0;0;100 21.433 False ENSG00000172354 ENSG00000172354 HGNC:4398 GNS gene GNS NHS GMS;Expert Review Red;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 27604308 False 1 50;0;50 21.433 False ENSG00000135677 ENSG00000135677 HGNC:4422 GPD1L gene GPD1L North West GLH;Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2 (611777) 30420954;19862833;16301704 False 1 0;0;100 21.433 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome 2, OMIM:611777 27761167;19666841 False 1 0;25;75 21.433 False ENSG00000152642 ENSG00000152642 HGNC:28956 GUSB gene GUSB South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 21.433 False ENSG00000169919 ENSG00000169919 HGNC:4696 HAL gene HAL London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000084110 ENSG00000084110 HGNC:4806 HCN4 gene HCN4 North West GLH;Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 8, OMIM:613123 27761167 False 1 25;0;75 21.433 False ENSG00000138622 ENSG00000138622 HGNC:16882 HRAS gene HRAS South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 21.433 False ENSG00000174775 ENSG00000174775 HGNC:5173 HYKK gene HYKK London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000188266 ENSG00000188266 HGNC:34403 IDH2 gene IDH2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2, 613657 20847235;24049096 False 1 25;75;0 21.433 True ENSG00000182054 ENSG00000182054 HGNC:5383 IDH3B gene IDH3B Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;100;0 21.433 False ENSG00000101365 ENSG00000101365 HGNC:5385 ILK gene ILK NHS GMS;South West GLH;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;0;100 21.433 False ENSG00000166333 ENSG00000166333 HGNC:6040 INO80 gene INO80 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, epilepsy and primary microcephaly 25558065 False 1 0;33;67 21.433 False ENSG00000128908 ENSG00000128908 HGNC:26956 KCND3 gene KCND3 South West GLH;London South GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 9, OMIM:616399 False 1 0;0;100 21.433 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCND3 gene KCND3 Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE1 gene KCNE1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE1 gene KCNE1 South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 (613693);Atrial fibrillation, familial, 4 (611493) 16301704 False 1 50;0;50 21.433 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Brugada syndrome 6 (613119) 16301704 False 1 0;50;50 21.433 False ENSG00000175538 ENSG00000175538 HGNC:6243 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown ?Brugada syndrome 6, OMIM:613119 19122847;27761167 False 1 0;25;75 21.433 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE3 gene KCNE3 South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Long QT syndrome; Brugada syndrome 19306396;doi:10. 1007/ s12265-016-9673-5;19306396 False 1 0;0;100 21.433 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology atrial fibrillation;Brugada syndrome 29350269 False 1 0;0;100 21.433 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNE5 gene KCNE5 Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome, MONDO:0015263 29350269;30289750 False 1 0;0;100 21.433 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNH2 gene KCNH2 Expert Review Red;South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 16043162;19174314;18692916 False 1 17;17;67 21.433 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNH8 gene KCNH8 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 21.433 False ENSG00000183960 ENSG00000183960 HGNC:18864 KCNJ2 gene KCNJ2 South West GLH;North West GLH;UKGTN;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 27761157 False 1 0;0;100 21.433 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 Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 True ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ5 gene KCNJ5 North West GLH;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Expert Review Red;Brugada syndrome (Version 1.7);Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown short qt;ventricular tachycardia;atrial fibrillation 21383000;15569843;27283775 False 1 0;0;100 21.433 False Other ENSG00000121361 ENSG00000121361 HGNC:6269 KCNJ8 gene KCNJ8 South West GLH;London South GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 21.433 False ENSG00000121361 ENSG00000121361 HGNC:6269 KCNK17 gene KCNK17 South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Heart conduction disease, MONDO:0000992 24972929 False 1 0;33;67 21.433 False ENSG00000124780 ENSG00000124780 HGNC:14465 KCNQ1 gene KCNQ1 South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Long QT syndrome; Short QT syndrome False 1 0;0;100 21.433 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCTD7 gene KCTD7 Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726;progressive myoclonic epilepsy type 3 MONDO:0012721 False 1 0;0;100 21.433 False ENSG00000243335 ENSG00000243335 HGNC:21957 KHK gene KHK London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Essential fructosuria (Disorders of fructose metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000138030 ENSG00000138030 HGNC:6315 KIF20A gene KIF20A Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, familial restrictive, 6, OMIM:619433 29357359 False 1 0;0;100 21.433 False ENSG00000112984 ENSG00000112984 HGNC:9787 KLF10 gene KLF10 South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Hypertrophic cardiomyopathy False 1 0;0;100 21.433 False ENSG00000155090 ENSG00000155090 HGNC:11810 KMT5B gene KMT5B Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 51, 617788 29276005;28191889 False 1 0;33;67 21.433 False ENSG00000110066 ENSG00000110066 HGNC:24283 LACTB gene LACTB Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000103642 ENSG00000103642 HGNC:16468 LAMA4 gene LAMA4 NHS GMS;South West GLH;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 21.433 False ENSG00000112769 ENSG00000112769 HGNC:6484 LDB3 gene LDB3 South West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;33;67 21.433 False ENSG00000122367 ENSG00000122367 HGNC:15710 LDB3 gene LDB3 South West GLH;London South GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;67;33 21.433 False ENSG00000122367 ENSG00000122367 HGNC:15710 LIPI gene LIPI London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypertriglyceridemia, susceptibility to}, 145750;Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) 27604308 False 1 0;0;100 21.433 False ENSG00000188992 ENSG00000188992 HGNC:18821 LMNA gene LMNA South West GLH;Expert list;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic False 1 0;0;100 21.433 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNB2 gene LMNB2 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 9, OMIM:616540 16826530;25954030;33033404 False 1 0;33;67 21.433 False ENSG00000176619 ENSG00000176619 HGNC:6638 LRP5 gene LRP5 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown short qt 30309679 False 1 0;0;100 21.433 False Other ENSG00000162337 ENSG00000162337 HGNC:6697 LYRM7 gene LYRM7 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8, 615838 29353736 False 1 75;0;25 21.433 False ENSG00000186687 ENSG00000186687 HGNC:28072 LZTR1 gene LZTR1 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal RASopathy-associated cardiomyopathy 30368668;30732632 False 1 25;0;75 21.433 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAGI2 gene MAGI2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609;Infantile Spasms 18565486;27932480;21694734;31056551 False 1 55;9;36 21.433 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAP2K1 gene MAP2K1 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown syndromic HCM False 1 0;50;50 21.433 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown syndromic HCM False 1 0;50;50 21.433 False ENSG00000126934 ENSG00000126934 HGNC:6842 MAPK10 gene MAPK10 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic Encephalopathy;EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 23329067 False 1 57;14;29 21.433 False ENSG00000109339 ENSG00000109339 HGNC:6872 MATN4 gene MATN4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, holoprosencephaly, microcephaly, lumbosacral myelomeningocele, epilepsy, proptosis, and diabetes insipidus 25558065 False 1 0;33;67 21.433 False ENSG00000124159 ENSG00000124159 HGNC:6910 MCM10 gene MCM10 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Restrictive cardiomyopathy, MONDO:0005201 33712616 False 1 0;0;100 21.433 False ENSG00000065328 ENSG00000065328 HGNC:18043 MCM3AP gene MCM3AP Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124 32202298 False 1 0;0;100 21.433 False ENSG00000160294 ENSG00000160294 HGNC:6946 MRPL12 gene MRPL12 Expert list;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 33;0;67 21.433 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL3 gene MRPL3 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 21.433 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL40 gene MRPL40 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;50;50 21.433 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPS23 gene MRPS23 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies PMID: 26741492 False 1 50;0;50 21.433 False ENSG00000181610 ENSG00000181610 HGNC:14509 MT-CO3 gene MT-CO3 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL seizures 8739943;12915481 False 1 0;0;0 21.433 False ENSG00000198938 ENSG00000198938 HGNC:7422 MTHFD1 gene MTHFD1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal {Abruptio placentae, susceptibility to};{Spina bifida, folate-sensitive, susceptibility to} 601634 AR False 1 0;0;100 21.433 False ENSG00000100714 ENSG00000100714 HGNC:7432 MT-TL1 gene MT-TL1 Wessex and West Midlands GLH;NHS GMS;UKGTN;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 1 0;17;83 21.433 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYH6 gene MYH6 Expert Review Red;South West GLH;London South GLH;North West GLH;Wessex and West Midlands GLH;Expert list;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1EE (613252);Atrial septal defect 3 (614089);{Sick sinus syndrome 3} (614090);Cardiomyopathy, hypertrophic, 14 (613251);Cardiomyopathy, familial hypertrophic, 14 27532257;22194935;30531895;28082330 False 1 0;20;80 21.433 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYO1H gene MYO1H Literature;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482 28779001 False 1 0;0;100 21.433 False ENSG00000174527 ENSG00000174527 HGNC:13879 MYO6 gene MYO6 South West GLH;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy False 1 0;50;50 21.433 False ENSG00000196586 ENSG00000196586 HGNC:7605 MYOM1 gene MYOM1 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;100;0 21.433 False ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 South West GLH;London South GLH;Expert Review Red;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 16, False 1 0;33;67 21.433 False ENSG00000172399 ENSG00000172399 HGNC:1330 NAT8L gene NAT8L Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?N-acetylaspartate deficiency 614063 19807691 False 1 0;0;100 21.433 False ENSG00000185818 ENSG00000185818 HGNC:26742 NDUFA11 gene NDUFA11 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology Mitochondrial complex I deficiency 252010 18306244 False 1 0;100;0 21.433 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA3 gene NDUFA3 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 1 0;100;0 21.433 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA4 gene NDUFA4 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065;mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 23746447;29636225;38674434;39472908 False 1 40;40;20 21.433 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA5 gene NDUFA5 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA6 gene NDUFA6 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 1 33;33;33 21.433 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA7 gene NDUFA7 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFA9 gene NDUFA9 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 22114105;28671271 False 1 50;25;25 21.433 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAB1 gene NDUFAB1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFAF6 gene NDUFAF6 Expert Review Red;MetBioNet;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, 612392 False 1 50;0;50 21.433 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 1 50;0;50 21.433 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB1 gene NDUFB1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFC1 gene NDUFC1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 21.433 False ENSG00000160194 ENSG00000160194 HGNC:7719 NEB gene NEB Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, OMIM:256030 23650303;26321576;28131200;29070751;29070751;39472908 False 1 0;0;100 21.433 False ENSG00000183091 ENSG00000183091 HGNC:7720 NEBL gene NEBL NHS GMS;South West GLH;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 21.433 False ENSG00000078114 ENSG00000078114 HGNC:16932 NEXN gene NEXN Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 20, OMIM:613876 27532257;20970104 False 1 0;33;67 21.433 False ENSG00000162614 ENSG00000162614 HGNC:29557 NID1 gene NID1 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, focal epilepsy and hemiparesis 25558065 False 1 0;33;67 21.433 False ENSG00000116962 ENSG00000116962 HGNC:7821 NOS1AP gene NOS1AP South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;33;67 21.433 False ENSG00000198929 ENSG00000198929 HGNC:16859 NOS1AP gene NOS1AP Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000198929 ENSG00000198929 HGNC:16859 NPHP3 gene NPHP3 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, OMIM:208540;Nephronophthisis 3, OMIM:604387;Meckel syndrome 7, OMIM:267010 34212438;39472908 False 1 0;0;100 21.433 False ENSG00000113971 ENSG00000113971 HGNC:7907 NRAS gene NRAS South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 21.433 False ENSG00000213281 ENSG00000213281 HGNC:7989 NRAS gene NRAS Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;67;33 21.433 False ENSG00000213281 ENSG00000213281 HGNC:7989 NT5C gene NT5C London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000125458 ENSG00000125458 HGNC:17144 NUP62 gene NUP62 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Infantile striatal necrosis (Other metabolic disorders);Striatonigral degeneration, infantile, 271930 27604308 False 1 0;0;100 21.433 False ENSG00000213024 ENSG00000213024 HGNC:8066 OSTC gene OSTC Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation 32267060 False 1 0;0;100 21.433 False ENSG00000198856 ENSG00000198856 HGNC:24448 OXA1L gene OXA1L Expert Review Red;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000155463 ENSG00000155463 HGNC:8526 PCDHB4 gene PCDHB4 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability, microcephaly and epilepsy 25558065 False 1 0;33;67 21.433 False ENSG00000081818 ENSG00000081818 HGNC:8689 PCLO gene PCLO Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;25;75 21.433 False ENSG00000186472 ENSG00000186472 HGNC:13406 PCYT2 gene PCYT2 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Spastic tetraparesis;Cerebral atrophy;Cerebellar atrophy 31637422;17325045;22764088 False 1 100;0;0 21.433 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDK1 gene PDK1 Expert Review Red;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 50;0;50 21.433 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 21.433 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK4 gene PDK4 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 21.433 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDLIM3 gene PDLIM3 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;50;50 21.433 False ENSG00000154553 ENSG00000154553 HGNC:20767 PDP2 gene PDP2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;33;67 21.433 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308;25558065 False 1 33;33;33 21.433 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDXK gene PDXK London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000160209 ENSG00000160209 HGNC:8819 PEX11A gene PEX11A Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;25608554;11839773 False 1 0;0;100 21.433 False ENSG00000166821 ENSG00000166821 HGNC:8852 PHKG1 gene PHKG1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;0;100 21.433 False ENSG00000164776 ENSG00000164776 HGNC:8930 PHYKPL gene PHYKPL London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism);[?Phosphohydroxylysinuria] 615011 27604308 False 1 0;0;100 21.433 False ENSG00000175309 ENSG00000175309 HGNC:28249 PIK3CA gene PIK3CA Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 22729224;22228622;22729223 False 1 33;67;0 21.433 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PKP2 gene PKP2 South West GLH;London South GLH;North West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27085656;27761167 False 1 0;0;100 21.433 False ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 North West GLH;Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 9 (609040) 30420954;19862833;16301704 False 1 0;0;100 21.433 False ENSG00000057294 ENSG00000057294 HGNC:9024 PNLIP gene PNLIP London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism);Pancreatic lipase deficiency 614338 27604308 False 1 0;0;100 21.433 False ENSG00000175535 ENSG00000175535 HGNC:9155 PNPLA4 gene PNPLA4 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;0;100 21.433 False ENSG00000006757 ENSG00000006757 HGNC:24887 POP1 gene POP1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;100;0 21.433 False ENSG00000104356 ENSG00000104356 HGNC:30129 PPM1B gene PPM1B London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;15913950;11524703 False 1 0;0;100 21.433 False ENSG00000138032 ENSG00000138032 HGNC:9276 PPM1K gene PPM1K Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown ?Maple syrup urine disease, mild variant 615135 False 1 0;0;100 21.433 False ENSG00000163644 ENSG00000163644 HGNC:25415 PRDM8 gene PRDM8 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 10, 616640 22961547 False 1 0;50;50 21.433 False ENSG00000152784 ENSG00000152784 HGNC:13993 PREPL gene PREPL London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome 606407;Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 1 0;0;100 21.433 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRICKLE2 gene PRICKLE2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;33;67 21.433 False ENSG00000163637 ENSG00000163637 HGNC:20340 PSMB8 gene PSMB8 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 20534754 False 1 0;33;67 21.433 False ENSG00000204264 ENSG00000204264 HGNC:9545 PTCD1 gene PTCD1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;100;0 21.433 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTCH1 gene PTCH1 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 7, OMIM:610828 False 1 0;50;50 21.433 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTPN11 gene PTPN11 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 21.433 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPRZ1 gene PTPRZ1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism);{H. pylori infection, susceptibility to} 600263 27604308 False 1 0;0;100 21.433 False ENSG00000106278 ENSG00000106278 HGNC:9685 RAF1 gene RAF1 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 21.433 False ENSG00000132155 ENSG00000132155 HGNC:9829 RALGAPB gene RALGAPB Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorders, autism 32853829 False 1 0;100;0 21.433 False ENSG00000170471 ENSG00000170471 HGNC:29221 RANGRF gene RANGRF Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;100 21.433 False ENSG00000108961 ENSG00000108961 HGNC:17679 RANGRF gene RANGRF South West GLH;London South GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;33;67 21.433 False ENSG00000108961 ENSG00000108961 HGNC:17679 RBM20 gene RBM20 London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology Cardiomyopathy, dilated, 1DD 613172 29650543;22466703;22561820;30482687 False 1 25;25;50 21.433 False ENSG00000203867 ENSG00000203867 HGNC:27424 RNU12 gene RNU12 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208 27863452;33577674 False 1 0;0;100 21.433 False ENSG00000270022 ENSG00000276027 HGNC:19380 RNU5A-1 gene RNU5A-1 Literature;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 40379786 False 1 0;0;0 21.433 False ENSG00000199568 ENSG00000199568 HGNC:10211 ROBO3 gene ROBO3 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 16525029;15105459 False 1 67;0;33 21.433 False ENSG00000154134 ENSG00000154134 HGNC:13433 RTEL1 gene RTEL1 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Familial Progressive Myoclonus Epilepsy 39156922 False 1 0;0;100 21.433 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUBCN gene RUBCN Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435 False 1 0;25;75 21.433 False ENSG00000145016 ENSG00000145016 HGNC:28991 RYR2 gene RYR2 Expert Review Red;South West GLH;London South GLH;Wessex and West Midlands GLH;Expert list;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2;Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) http://www.ncbi.nlm.nih.gov/books/NBK1131/;19926015;17875969;29567486;28404607 False 1 25;50;25 21.433 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 South West GLH;London South GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 North West GLH;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000198626 ENSG00000198626 HGNC:10484 SARDH gene SARDH London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal [Sarcosinemia] 268900;Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal [High density lipoprotein cholesterol level QTL6] 610762;Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) 27604308 False 1 0;0;100 21.433 False ENSG00000073060 ENSG00000073060 HGNC:1664 SCN10A gene SCN10A North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN10A gene SCN10A Expert Review Red;South West GLH;London South GLH;North West GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome, MONDO:0015263 24998131;27761167 False 1 25;0;75 21.433 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 Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN1B gene SCN1B North West GLH;Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2B gene SCN2B Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 21.433 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN2B gene SCN2B Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;17;83 21.433 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN2B gene SCN2B Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;0 21.433 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN3B gene SCN3B North West GLH;Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 21.433 False ENSG00000166257 ENSG00000166257 HGNC:20665 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 7, OMIM:613120 23257389;27761167 False 1 25;0;75 21.433 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 21.433 False ENSG00000177098 ENSG00000177098 HGNC:10592 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-10 ;Long QT syndrome-10 (611819) 17592081 False 1 0;14;86 21.433 False Other - please provide details in the comments ENSG00000177098 ENSG00000177098 HGNC:10592 SCN5A gene SCN5A South West GLH;London South GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome; Brugada syndrome; Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 24317018;doi:10. 1007/ s12265-016-9673-5;26916278;28069705 False 1 20;20;60 21.433 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN8A gene SCN8A Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cognitive impairment with or without cerebellar ataxia, OMIM:614306;Developmental and epileptic encephalopathy 13, OMIM:614558;Seizures, benign familial infantile, 5, OMIM:617080;?Myoclonus, familial, 2, OMIM:618364 3947290 False 1 0;0;100 21.433 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCN9A gene SCN9A Expert Review Red;North West GLH;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, generalized, with febrile seizures plus, type 7 613863;Febrile seizures, familial, 3B 613863;{Dravet syndrome, modifier of} 607208 19763161;29500686;30834459;23895530;33216760 False 1 0;22;78 21.433 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCO2 gene SCO2 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 21.433 False ENSG00000130489 ENSG00000130489 HGNC:10604 SEC24D gene SEC24D Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability and epilepsy 25558065 False 1 0;33;67 21.433 False ENSG00000150961 ENSG00000150961 HGNC:10706 SEC31A gene SEC31A Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 618651 30464055 False 1 0;100;0 21.433 False ENSG00000138674 ENSG00000138674 HGNC:17052 SELENON gene SELENON Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 3 with rigid spine, OMIM:602771;rigid spine muscular dystrophy 1, MONDO:0011271 35868898;39472908 False 1 0;0;100 21.433 False ENSG00000162430 ENSG00000162430 HGNC:15999 SHH gene SHH Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;100;0 21.433 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHOC2 gene SHOC2 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 21.433 False ENSG00000108061 ENSG00000108061 HGNC:15454 SHPK gene SHPK London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency (Other metabolic disorders);[Sedoheptulokinase deficiency] 617213 27604308 False 1 0;0;100 21.433 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC22A4 gene SLC22A4 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown 24816252 False 1 0;0;100 21.433 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC22A5 gene SLC22A5 Expert Review Red;West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood 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 21.433 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A19 gene SLC25A19 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 False 1 0;50;50 21.433 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A2 gene SLC25A2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000120329 ENSG00000120329 HGNC:22921 SLC25A3 gene SLC25A3 South West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Mitochondrial phosphate carrier deficiency, 610773 False 1 0;33;67 21.433 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A4 gene SLC25A4 South West GLH;North West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418);Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283);Hypertrophic cardiomyopathy 25732997;27532257 False 1 0;0;100 21.433 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A40 gene SLC25A40 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 0;100;0 21.433 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC26A6 gene SLC26A6 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 21.433 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC27A5 gene SLC27A5 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) 27604308 False 1 0;0;100 21.433 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC35A3 gene SLC35A3 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089 False 1 0;0;0 21.433 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC36A2 gene SLC36A2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic 242600;Hyperglycinuria 138500;Hyperglycinuria AR 27604308;19033659 False 1 0;0;0 21.433 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC52A1 gene SLC52A1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency 615026 21089064 False 1 0;0;100 21.433 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC5A6 gene SLC5A6 NHS GMS;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219;35013551;38036278;38012394;37391029;31754459 False 1 25;0;75 21.433 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;UKGTN;Radboud University Medical Center, Nijmegen;Literature;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, 234500 27604308;20399395;19335424;24596948;15592994 False 1 33;67;0 21.433 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria 24816252;19033659 False 1 0;0;100 21.433 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A5 gene SLC6A5 Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 False 1 0;43;57 21.433 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC7A6OS gene SLC7A6OS Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic, 12 OMIM:619191 25803583;33085104 False 1 0;0;100 21.433 False ENSG00000103061 ENSG00000103061 HGNC:25807 SLCO1B1 gene SLCO1B1 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 24816252;22232210 False 1 0;0;100 21.433 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 22232210 False 1 0;0;100 21.433 False ENSG00000111700 ENSG00000111700 HGNC:10961 SLMAP gene SLMAP South West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 21.433 False ENSG00000163681 ENSG00000163681 HGNC:16643 SLMAP gene SLMAP Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 1 0;0;0 21.433 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 612955;Long QT syndrome 12 (612955) 19684871 False 1 17;33;50 21.433 True ENSG00000101400 ENSG00000101400 HGNC:11167 SNTA1 gene SNTA1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 (612955) 30420954;19862833;16301704 False 1 0;0;100 21.433 False ENSG00000101400 ENSG00000101400 HGNC:11167 SOS1 gene SOS1 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 21.433 False ENSG00000115904 ENSG00000115904 HGNC:11187 SPRED1 gene SPRED1 NHS GMS;Expert Review Red;Expert List Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome 611431 19366998;19443465;21649642;21548021;17704776 False 1 33;0;67 21.433 False ENSG00000166068 ENSG00000166068 HGNC:20249 SRPX2 gene SRPX2 Expert Review Red;Wessex and West Midlands GLH;NHS GMS;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, OMIM:300643 24179158;18718938;29663392;24995671;16497722 False 1 0;14;86 21.433 False ENSG00000102359 ENSG00000102359 HGNC:30668 SRRT gene SRRT Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;100 21.433 False ENSG00000087087 ENSG00000087087 HGNC:24101 STIL gene STIL NHS GMS;Expert Review Red;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, 612703 False 1 0;50;50 21.433 False ENSG00000123473 ENSG00000123473 HGNC:10879 STT3B gene STT3B Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;0 21.433 False ENSG00000163527 ENSG00000163527 HGNC:30611 SUCLG2 gene SUCLG2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Succinyl-CoA synthetase deficiency (Other metabolic disorders);No OMIM phenotype 27604308 False 1 0;50;50 21.433 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUGCT gene SUGCT London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria type III (Organic acidurias);Glutaric aciduria type III 231690 27604308 False 1 0;0;100 21.433 False ENSG00000175600 ENSG00000175600 HGNC:16001 TACO1 gene TACO1 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 1 50;0;50 21.433 False ENSG00000136463 ENSG00000136463 HGNC:24316 TBX1 gene TBX1 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, HP:0001639 41130538 False 1 0;50;50 21.433 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX3 gene TBX3 Expert Review Red;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 30820409 False 1 0;33;67 21.433 False ENSG00000135111 ENSG00000135111 HGNC:11602 TCAP gene TCAP NHS GMS;Expert Review Red;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophies;Cardiomyopathy, dilated, 1N 21530252;23479141 False 1 0;0;100 21.433 False ENSG00000173991 ENSG00000173991 HGNC:11610 TCAP gene TCAP South West GLH;London South GLH;North West GLH;Expert list;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 25 (607487);Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) 15582318;27532257 False 1 0;25;75 21.433 False ENSG00000173991 ENSG00000173991 HGNC:11610 TCN1 gene TCN1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism);No OMIM number 27604308 False 1 0;0;100 21.433 False ENSG00000134827 ENSG00000134827 HGNC:11652 TDO2 gene TDO2 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM number;Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 21.433 False ENSG00000151790 ENSG00000151790 HGNC:11708 TGFB3 gene TGFB3 South West GLH;London South GLH;Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1 False 1 0;20;80 21.433 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFB3 gene TGFB3 NHS GMS;South West GLH;London South GLH;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1 False 1 0;0;100 21.433 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGIF1 gene TGIF1 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 4, 142946 False 1 0;50;50 21.433 False ENSG00000177426 ENSG00000177426 HGNC:11776 TIMM44 gene TIMM44 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000104980 ENSG00000104980 HGNC:17316 TM6SF2 gene TM6SF2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-alcoholic fatty liver disease 28235613 False 1 0;0;100 21.433 False ENSG00000213996 ENSG00000213996 HGNC:11861 TMEM126A gene TMEM126A Expert Review Red;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 612989 27604308;31119195 False 1 50;0;50 21.433 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM70 gene TMEM70 South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;100;0 21.433 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMPO gene TMPO NHS GMS;South West GLH;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant False 1 0;0;100 21.433 False ENSG00000120802 ENSG00000120802 HGNC:11875 TPMT gene TPMT London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism);{Thiopurines, poor metabolism of, 1} 610460 27604308 False 1 0;0;100 21.433 False ENSG00000137364 ENSG00000137364 HGNC:12014 TREH gene TREH London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Trehalase deficiency (Other carbohydrate disorders) 27604308 False 1 0;0;100 21.433 False ENSG00000118094 ENSG00000118094 HGNC:12266 TRPM4 gene TRPM4 North West GLH;Brugada syndrome (Version 1.7) Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive familial heart block, type IB (604559) 30420954;19862833;16301704 False 1 0;0;100 21.433 False ENSG00000130529 ENSG00000130529 HGNC:17993 TRPM4 gene TRPM4 Expert Review Red;South West GLH;North West GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 23382873;27761167 False 1 25;0;75 21.433 False ENSG00000130529 ENSG00000130529 HGNC:17993 TSFM gene TSFM South West GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 610505 False 1 0;33;67 21.433 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, 615157 False 1 50;0;50 21.433 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTN gene TTN South West GLH;London South GLH;Expert Review Red;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1G, 604145 30535219;31251381;33106378 False 1 17;17;67 21.433 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTN gene TTN South West GLH;Expert Review Red;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 9, http://www.ncbi.nlm.nih.gov/pubmed/22335739 False 1 0;0;100 21.433 False ENSG00000155657 ENSG00000155657 HGNC:12403 TUBA3E gene TUBA3E Wessex and West Midlands GLH;NHS GMS;Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, primary microcephaly, lissencephaly, epilepsy 25558065 False 1 0;33;67 21.433 False ENSG00000152086 ENSG00000152086 HGNC:20765 TXN2 gene TXN2 Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 29, 616811;infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy 26626369 False 1 0;0;0 21.433 False ENSG00000100348 ENSG00000100348 HGNC:17772 TXN2 gene TXN2 Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 PMID: 26626369 False 1 100;0;0 21.433 False ENSG00000100348 ENSG00000100348 HGNC:17772 UNC13B gene UNC13B Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted partial epilepsy, MONDO:0005384 33876820;35380625 False 1 0;0;100 21.433 False ENSG00000198722 ENSG00000198722 HGNC:12566 UQCRB gene UQCRB Expert Review Red;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 28604960;25446085;12709789 False 1 67;0;33 21.433 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRH gene UQCRH Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown No OMIM phenotype False 1 0;100;0 21.433 False ENSG00000173660 ENSG00000173660 HGNC:12590 USF1 gene USF1 London North GLH;NHS GMS;Expert Review Red Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) 27604308 False 1 0;0;100 21.433 False ENSG00000158773 ENSG00000158773 HGNC:12593 VCL gene VCL South West GLH;North West GLH;Expert list;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, familial hypertrophic, 15, ;Cardiomyopathy, hypertrophic, 15 (613255) 27532257;28369730 False 1 0;0;100 21.433 False ENSG00000035403 ENSG00000035403 HGNC:12665 VPS13C gene VPS13C Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology Unknown False 1 33;0;67 21.433 False ENSG00000129003 ENSG00000129003 HGNC:23594 ZIC2 gene ZIC2 NHS GMS;Expert Review Red;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 5, 609637 False 1 0;50;50 21.433 False ENSG00000043355 ENSG00000043355 HGNC:12873 GLS_GCA str GLS Expert Review Red;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 21.433 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400 SAMD12_TTTCA str SAMD12 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epilepsy, familial adult myoclonic, 1, OMIM:601068;epilepsy, familial adult myoclonic, 1, MONDO:0010985 30194086;29507423;29939203;32203200 False 1 100;0;0 21.433 False ENSG00000177570 ENSG00000177570 HGNC:31750 8 118366902 118367003 TTTCA 0 100 STARD7_ATTTC str STARD7 Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial adult myoclonic, 2, OMIM:607876;epilepsy, familial adult myoclonic, 2, MONDO:0011930 31664034 False 1 100;0;0 21.433 False ENSG00000084090 ENSG00000084090 HGNC:18063 2 96197066 96197121 ATTTC 0 274 ISCA-37431-Loss region Expert Review Red;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dysmorphic features, cardiac anomalies and mental retardation;613675;variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NF1 MICRODELETION SYNDROME;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb False 1 0;100;0 21.433 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss