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 ABCA2 gene ABCA2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808;Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930 30237576;29302074;31047799 False 2 33;67;0 21.433 False ENSG00000107331 ENSG00000107331 HGNC:32 ABI2 gene ABI2 Expert Review Amber;Literature;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40475134 False 2 100;0;0 21.433 False ENSG00000138443 ENSG00000138443 HGNC:24011 ADAM22 gene ADAM22 Expert Review Amber;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile, 61 OMIM:617933;developmental and epileptic encephalopathy, 61 MONDO:0033370 27066583;30237576;15876356;31432233;33397806 False 2 33;67;0 21.433 False ENSG00000008277 ENSG00000008277 HGNC:201 ADAT3 gene ADAT3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, OMIM:615286 23620220;26842963;30296593;29796286 False 2 33;67;0 21.433 False ENSG00000213638 ENSG00000213638 HGNC:25151 ADD1 gene ADD1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Seizures;Ventriculomegaly;Abnormality of the corpus callosum 34906466 False 2 0;100;0 21.433 False ENSG00000087274 ENSG00000087274 HGNC:243 ADGRL1 gene ADGRL1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065 35907405 False 2 0;100;0 21.433 False ENSG00000072071 ENSG00000072071 HGNC:20973 AGL gene AGL Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertrophic-hypocontractile cardiomyopathy;Glycogen storage disease type IIIa (debrancher enzyme deficiency);syndromic HCM;Glycogen storage disease IIIb, 232400;myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance;Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases;Glycogen Storage Disease;Glycogen Storage Disease Type III;Glycogen storage disease IIIa, 232400;Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen storage disease type III, Cori (Glycogen storage disorders);HCM National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp;27604308 False 2 100;0;0 21.433 False ENSG00000162688 ENSG00000162688 HGNC:321 AIMP2 gene AIMP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 17, OMIM:618006;eukodystrophy, hypomyelinating, 17, MONDO:0054817 29215095;26795593;35140751;35568357;38374194 False 2 20;80;0 21.433 False ENSG00000106305 ENSG00000106305 HGNC:20609 AJAP1 gene AJAP1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38985877 False 2 50;50;0 21.433 False ENSG00000196581 ENSG00000196581 HGNC:30801 ALG13 gene ALG13 Expert Review Amber;London North GLH;NHS GMS 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) "?Congenital disorder of glycosylation, type Is 300884;Epileptic encephalopathy, early infantile, 36 300884" 27604308;25732998;22492991 False 2 0;0;0 21.433 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates 616228;Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation);?Congenital disorder of glycosylation, type Ii 607906 12684507;23404334 False 2 0;0;100 21.433 False ENSG00000119523 ENSG00000119523 HGNC:23159 AMACR gene AMACR Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency, OMIM:614307 37452652 False 2 100;0;0 21.433 False ENSG00000242110 ENSG00000242110 HGNC:451 ANK2 gene ANK2 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 2 0;100;0 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD1 gene ANKRD1 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 21.433 False ENSG00000148677 ENSG00000148677 HGNC:15819 ARSB gene ARSB Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200;MUCOPOLYSACCHARIDOSIS TYPE 6;Mucopolysaccharidosis, Type VI;MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease);Mucopolysaccharidosis Type VI 27604308 False 2 100;0;0 21.433 False ENSG00000113273 ENSG00000113273 HGNC:714 ASNA1 gene ASNA1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, dilated, 2H, OMIM:620203 31461301 False 2 0;100;0 21.433 False ENSG00000198356 ENSG00000198356 HGNC:752 ASTN1 gene ASTN1 Expert Review Amber;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 29706646;27431290;26539891;41544630 False 2 67;0;33 21.433 False ENSG00000152092 ENSG00000152092 HGNC:773 ATAD3A gene ATAD3A Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183 27640307;28652416;28158749;31727539 False 2 0;100;0 21.433 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATP2B1 gene ATP2B1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 66, OMIM:619910 35358416;33057194;40834682 False 2 25;75;0 21.433 False ENSG00000070961 ENSG00000070961 HGNC:814 ATP5A1 gene ATP5A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 False 2 0;67;33 21.433 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 0;100;0 21.433 False ENSG00000110955 ENSG00000110955 HGNC:830 ATP5D gene ATP5D Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 29478781 False 2 100;0;0 21.433 False ENSG00000099624 ENSG00000099624 HGNC:837 ATP6AP2 gene ATP6AP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Hedera type False 2 0;67;33 21.433 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATPAF2 gene ATPAF2 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 False 2 67;33;0 21.433 False ENSG00000171953 ENSG00000171953 HGNC:18802 BAIAP2 gene BAIAP2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental and epileptic encephalopathy, MONDO:0100620;classic lissencephaly, MONDO:0015146 30696821;38149472;41133935 False 2 50;50;0 21.433 False Other ENSG00000175866 ENSG00000175866 HGNC:947 BLOC1S1 gene BLOC1S1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal severe intellectual disability;severe global developmental delay;epilepsy 33875846 False 2 100;0;0 21.433 False ENSG00000135441 ENSG00000135441 HGNC:4200 BORCS5 gene BORCS5 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092 27435318;40385417;40621786 False 2 100;0;0 21.433 False ENSG00000165714 ENSG00000165714 HGNC:17950 BORCS8 gene BORCS8 Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 38128568 False 2 50;50;0 21.433 False ENSG00000254901 ENSG00000254901 HGNC:37247 BRAF gene BRAF Expert Review Amber;NHS GMS;Expert List;South West GLH;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 7 613706;Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 115150;Noonan Syndrome;syndromic HCM;Cardiofaciocutaneous Syndrome;LEOPARD Syndrome;LEOPARD syndrome 3;LEOPARD syndrome 3 613707 21396583;19206169 False 2 80;20;0 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 BSN gene BSN Expert Review Amber;Other 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 neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 36600631;39616287;40393460 False 2 50;50;0 21.433 False ENSG00000164061 ENSG00000164061 HGNC:1117 CACNA1H gene CACNA1H Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology Hyperaldosteronism, familial, type IV 617027;{Epilepsy, childhood absence, susceptibility to, 6} 611942;{Epilepsy, idiopathic generalized, susceptibility to, 6} 611942 12891677;32227660;15048902 False 2 0;38;62 21.433 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA2D1 gene CACNA2D1 Expert Review Amber;South West GLH;London South GLH;North West GLH;UKGTN;Brugada syndrome (Version 1.7);Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short qt;Brugada syndrome;aborted sudden death;Short QT syndrome 6 30420954;19862833;16301704 False 2 14;71;14 21.433 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNA2D1 gene CACNA2D1 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Early onset developmental epilepsy 35293990;28097321 False 2 0;100;0 21.433 False ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 South West GLH;London South GLH;North West GLH;Expert Review Amber;UKGTN;Brugada syndrome (Version 1.7);Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 4 (611876);Short QT syndrome 5;brugada syndrome;Brugada syndrome 4 611876;short qt 30420954;19862833;16301704 False 2 14;71;14 21.433 False ENSG00000165995 ENSG00000165995 HGNC:1402 CAMK2D gene CAMK2D Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38272033 False 2 0;100;0 21.433 False ENSG00000145349 ENSG00000145349 HGNC:1462 CBL gene CBL Expert Review Amber;NHS GMS;Expert List;South West GLH;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 20543203;19571318;20619386 False 2 67;33;0 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC88C gene CCDC88C Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spinocerebellar ataxia 40 616053 AD;Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR 23042809;21031079 False 2 33;67;0 21.433 False ENSG00000015133 ENSG00000015133 HGNC:19967 CCT8 gene CCT8 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CCT8-related neurodevelopmental disorder with brain abnormalities 39480921 False 2 0;100;0 21.433 False ENSG00000156261 ENSG00000156261 HGNC:1623 CD320 gene CD320 Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646;methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341 20524213;22819238;23754956;27604308 False 2 0;100;0 21.433 False ENSG00000167775 ENSG00000167775 HGNC:16692 CDC42BPB gene CDC42BPB Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chilton-Okur-Chung neurodevelopmental syndrome, OMIM:619841;Chilton-Okur-Chung neurodevelopmental syndrome, MONDO:0859239 32031333 False 2 0;100;0 21.433 False ENSG00000198752 ENSG00000198752 HGNC:1738 CDH2 gene CDH2 Expert Review Amber;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia, familial, 14, 618920 28326674;28280076;24294380 False 2 33;67;0 21.433 False ENSG00000170558 ENSG00000170558 HGNC:1759 CELF4 gene CELF4 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 40108438 False 2 0;100;0 21.433 False ENSG00000101489 ENSG00000101489 HGNC:14015 CELSR3 gene CELSR3 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 34951123;38429302 False 2 100;0;0 21.433 False ENSG00000008300 ENSG00000008300 HGNC:3230 CLCA2 gene CLCA2 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 2 0;100;0 21.433 False ENSG00000137975 ENSG00000137975 HGNC:2016 CLCN7 gene CLCN7 Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 31155284 False 2 0;100;0 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CLN6 gene CLN6 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 21549341;31029456;31216804;30561534 False 2 0;33;67 21.433 False ENSG00000128973 ENSG00000128973 HGNC:2077 COA3 gene COA3 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 2 50;50;0 21.433 False ENSG00000183978 ENSG00000183978 HGNC:24990 COASY gene COASY Expert Review Amber;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, 615643;Pontocerebellar hypoplasia, type 12, 618266 30089828;27021474;36495139 False 2 0;100;0 21.433 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG3 gene COG3 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 21.433 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG3 gene COG3 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 21.433 False ENSG00000136152 ENSG00000136152 HGNC:18619 COG4 gene COG4 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj, OMIM:613489 False 2 0;100;0 21.433 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG6 gene COG6 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iil 614576 20605848 False 2 0;100;0 21.433 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG8 gene COG8 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh 611182 28619360;17220172;17331980 False 2 0;100;0 21.433 False ENSG00000213380 ENSG00000213380 HGNC:18623 COLGALT1 gene COLGALT1 Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Brain small vessel disease 3, OMIM:618360 30412317;33709034;31759980 False 2 100;0;0 21.433 False ENSG00000130309 ENSG00000130309 HGNC:26182 COQ5 gene COQ5 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Coenzyme Q10 deficiency, primary, 9, OMIM:619028;mitochondrial disease, MONDO:0044970 29044765;36266294;37599337;41199775 False 2 0;100;0 21.433 False ENSG00000110871 ENSG00000110871 HGNC:28722 COQ6 gene COQ6 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650 False 2 0;100;0 21.433 False ENSG00000119723 ENSG00000119723 HGNC:20233 COX10 gene COX10 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 2 0;100;0 21.433 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 36030551;38068960 False 2 0;50;50 21.433 False ENSG00000166260 ENSG00000166260 HGNC:2261 COX14 gene COX14 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, OMIM:220110 22243966 False 2 75;25;0 21.433 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX15 gene COX15 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 21412973;12474143;15863660;15235026 False 2 0;100;0 21.433 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 2 100;0;0 21.433 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX4I2 gene COX4I2 Expert Review Amber;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 27604308;19268275;22592081 False 2 50;0;50 21.433 False ENSG00000131055 ENSG00000131055 HGNC:16232 COX6B1 gene COX6B1 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 2 67;33;0 21.433 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Amber;MetBioNet;NHS GMS 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) Linear skin defects with multiple congenital anomalies 2, 300887 False 2 50;50;0 21.433 False ENSG00000131174 ENSG00000131174 HGNC:2291 CPSF3 gene CPSF3 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures, OMIM:619876 35121750 False 2 0;100;0 21.433 False ENSG00000119203 ENSG00000119203 HGNC:2326 CRLS1 gene CRLS1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 2 0;100;0 21.433 False ENSG00000088766 ENSG00000088766 HGNC:16148 CRYAB gene CRYAB NHS GMS;South West GLH;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1II, OMIM:615184;Myopathy, myofibrillar, 2, OMIM:608810 False 2 0;100;0 21.433 False ENSG00000109846 ENSG00000109846 HGNC:2389 CRYAB gene CRYAB Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1II, OMIM:615184;Myopathy, myofibrillar, 2, OMIM:608810 False 2 0;100;0 21.433 False ENSG00000109846 ENSG00000109846 HGNC:2389 CSNK1G1 gene CSNK1G1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 24463883;33009664 False 2 0;14;86 21.433 False ENSG00000169118 ENSG00000169118 HGNC:2454 CSRP3 gene CSRP3 Expert Review Amber;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cardiomyopathy, dilated, 1M (607482);Cardiomyopathy, dilated, 1M;Cardiomyopathy, hypertrophic, 12 (612124) 18505755;27532257 False 2 0;67;33 21.433 False ENSG00000129170 ENSG00000129170 HGNC:2472 CSTB gene CSTB London North GLH;NHS GMS;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 27604308 False 2 0;0;0 21.433 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTU2 gene CTU2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal seizures;DREAM PL syndrome;Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 31301155 False 2 0;0;0 21.433 False ENSG00000174177 ENSG00000174177 HGNC:28005 CYP27A1 gene CYP27A1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;seizures;photosensitive epilepsy 18227423;22336472;24442603;29484516;2019602 False 2 25;50;25 21.433 False ENSG00000135929 ENSG00000135929 HGNC:2605 DALRD3 gene DALRD3 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Developmental and epileptic encephalopathy 86, # 618910 32427860;39482881 False 2 0;100;0 21.433 False ENSG00000178149 ENSG00000178149 HGNC:25536 DCC gene DCC Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2 28250456 False 2 0;100;0 21.433 False ENSG00000187323 ENSG00000187323 HGNC:2701 DENND5B gene DENND5B Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENND5B associated neurodevelopmental disorder 38387458 False 2 0;100;0 21.433 False ENSG00000170456 ENSG00000170456 HGNC:28338 DHCR24 gene DHCR24 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, 602398 21559050;24961299 False 2 33;67;0 21.433 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400 24920862;29226552;10807690 False 2 33;67;0 21.433 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 21295282;21295283;27343064 False 2 0;0;0 21.433 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHRSX gene DHRSX Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 2 20;20;60 21.433 False ENSG00000169084 ENSG00000169084 HGNC:18399 DHX16 gene DHX16 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuromuscular disease and ocular or auditory anomalies with or without seizures 618733 31256877 False 2 0;100;0 21.433 False ENSG00000204560 ENSG00000204560 HGNC:2739 DNAJC5 gene DNAJC5 Expert Review Amber;Other;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350;autosomal dominant Kufs disease;generalized tonic clonic seizures 22978711;29506599;22235333 False 2 0;0;0 21.433 False ENSG00000101152 ENSG00000101152 HGNC:16235 DPM2 gene DPM2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;26453362 False 2 33;67;0 21.433 True ENSG00000136908 ENSG00000136908 HGNC:3006 EFHC1 gene EFHC1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert list;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, juvenile absence, susceptibility to, 1} 607631;{Myoclonic epilepsy, juvenile, susceptibility to, 1} 254770 17159113;18505993;15258581;19147686;28370826;29750216;31056551 False 2 17;17;67 21.433 True ENSG00000096093 ENSG00000096093 HGNC:16406 EHHADH gene EHHADH Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910;33340416 False 2 0;100;0 21.433 False ENSG00000113790 ENSG00000113790 HGNC:3247 EIF2AK2 gene EIF2AK2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, 618877 32197074 False 2 0;0;0 21.433 False ENSG00000055332 ENSG00000055332 HGNC:9437 EMX2 gene EMX2 Expert Review Amber;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 Schizencephaly, OMIM:269160 8528262;9359037 False 2 40;60;0 21.433 False ENSG00000170370 ENSG00000170370 HGNC:3341 ERAL1 gene ERAL1 Expert list;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 28449065 False 2 0;0;0 21.433 False ENSG00000132591 ENSG00000132591 HGNC:3424 EXOC7 gene EXOC7 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Brain atrophy;Seizures;Developmental delay;Microcephaly 32103185 False 2 0;0;0 21.433 False ENSG00000182473 ENSG00000182473 HGNC:23214 FAH gene FAH Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Liver failure, vomiting, renal tubulopathy;Tyrosinemia, type I;Tyrosinaemia type 1 (fumarylactoacetase deficiency);HCM 27604308 False 2 100;0;0 21.433 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM50A gene FAM50A Expert Review Amber;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) Mental retardation syndrome, X-linked, Armfield type, OMIM:300261;Armfield syndrome, MONDO:0010284 32703943 False 2 0;100;0 21.433 False ENSG00000071859 ENSG00000071859 HGNC:18786 FASTKD2 gene FASTKD2 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 28499982 False 2 67;33;0 21.433 False ENSG00000118246 ENSG00000118246 HGNC:29160 FDFT1 gene FDFT1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Squalene synthase deficiency, 618156 29909962 False 2 50;50;0 21.433 False ENSG00000079459 ENSG00000079459 HGNC:3629 FH gene FH Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812 2314594;10805328;20301679;20549362;15221078;16151915 False 2 50;50;0 21.433 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153;seizures;Walker-warburg syndrome or muscle-eye-brain disease;Muscular dystrophy, congenital, 1c 14652796;23420653;11741828;11592034 False 2 33;33;33 21.433 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKRP gene FKRP Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155 15833432;18060779;19705481;32914449 False 2 67;33;0 21.433 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Amber;South West GLH;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH;Illumina TruGenome Clinical Sequencing Services;London South GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated Cardiomyopathy, Recessive;Cardiomyopathy, dilated, 1X 17878207, 18177472, 18752264 , 19266496, 27065010 False 2 0;67;33 21.433 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLII gene FLII Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 32870709 False 2 50;50;0 21.433 False ENSG00000177731 ENSG00000177731 HGNC:3750 FNIP1 gene FNIP1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertrophic Cardiomyopathy;Primary Immunodeficiency;Agammaglobulinemia;Neutropenia 32181500;32905580 False 2 100;0;0 21.433 False ENSG00000217128 ENSG00000217128 HGNC:29418 FOXRED1 gene FOXRED1 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, 618241 False 2 50;50;0 21.433 False ENSG00000110074 ENSG00000110074 HGNC:26927 FSD1L gene FSD1L Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41720098;41720099 False 2 100;0;0 21.433 False ENSG00000106701 ENSG00000106701 HGNC:13753 GABRA3 gene GABRA3 Expert Review Amber;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) Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features, OMIM:301091 41289009;29053855 False 2 100;0;0 21.433 False ENSG00000011677 ENSG00000011677 HGNC:4077 GATA6 gene GATA6 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 21.433 False ENSG00000141448 ENSG00000141448 HGNC:4174 GATA6 gene GATA6 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 21.433 False ENSG00000141448 ENSG00000141448 HGNC:4174 GATC gene GATC Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 42, OMIM:618839 30283131 False 2 0;100;0 21.433 False ENSG00000257218 ENSG00000257218 HGNC:25068 GCH1 gene GCH1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, 233910;seizures 7869202;17407085;12552057;7730309;31202265;18276179 False 2 33;67;0 21.433 False ENSG00000131979 ENSG00000131979 HGNC:4193 GFM1 gene GFM1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1 609060 25852744;26937387;28216230;23430926;21986555;21119709 False 2 0;100;0 21.433 False ENSG00000168827 ENSG00000168827 HGNC:13780 GLB1 gene GLB1 Expert Review Amber;NHS GMS;South West GLH;MetBioNet;MetBioNet;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, 230500;Mucopolysaccharidosis type IVB (Morquio), 253010;GM1-gangliosidosis (Sphingolipidoses);syndromic HCM;Mucopolysaccharidosis Type IVB;GM1-gangliosidosis, type II, 230600;MUCOPOLYSACCHARIDOSIS TYPE 4B;MPS IVB, Morquio B disease (MPS IV, Morquio disease);GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis, Type IV 27604308 False 2 67;33;0 21.433 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLI3 gene GLI3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 2 0;67;33 21.433 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLRA1 gene GLRA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400;Hyperekplexia;developmental delay;infantile spasms and generalized tonic-clonic seizures 29602144;13594585;1352015 False 2 0;43;57 21.433 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLYCTK gene GLYCTK Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120 3588091;30637540;28462797;20949620;28190537 False 2 33;67;0 21.433 False ENSG00000168237 ENSG00000168237 HGNC:24247 GSN gene GSN Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, OMIM:105120;cranial neuropathy;peripheral neuropathy;cutis laxa;cardiomyopathy, MONDO:0004994;arrhythmia 33499149;26339870 False 2 100;0;0 21.433 False ENSG00000148180 ENSG00000148180 HGNC:4620 GSS gene GSS Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency 266130; Hemolytic anemia due to glutathione synthetase deficiency 231900 26984560;11445798;15990954;26669244 False 2 33;67;0 21.433 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTPBP3 gene GTPBP3 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, 616198 25434004 False 2 67;33;0 21.433 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUF1 gene GUF1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Epileptic encephalopathy, early infantile, 40, 617065 26486472 False 2 0;100;0 21.433 False ENSG00000151806 ENSG00000151806 HGNC:25799 GYG1 gene GYG1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV, OMIM:613507;hypertrophic cardiomyopathy, MONDO:0005045 27718144;20357282;31628455 False 2 0;100;0 21.433 False ENSG00000163754 ENSG00000163754 HGNC:4699 HCCS gene HCCS Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services 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) Linear skin defects with multiple congenital anomalies 1, 309801 17033964 False 2 33;33;33 21.433 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCN4 gene HCN4 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 21.433 False ENSG00000138622 ENSG00000138622 HGNC:16882 HEATR5B gene HEATR5B Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia, MONDO:0020135;intellectual disability, MONDO:0001071;seizures 33824466 False 2 0;100;0 21.433 False ENSG00000008869 ENSG00000008869 HGNC:29273 HFE gene HFE Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, OMIM:235200;Iron overload, liver disease, diabetes, hypogonadism;Hypertrophic-hypocontractile cardiomyopathy 27604308 False 2 50;50;0 21.433 False ENSG00000010704 ENSG00000010704 HGNC:4886 HGSNAT gene HGSNAT Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type IIIC;MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses);Retinitis Pigmentosa 73;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type III;Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 27604308;21048366 False 2 33;33;33 21.433 False ENSG00000165102 ENSG00000165102 HGNC:26527 HLCS gene HLCS Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 22027809;27114915 False 2 14;29;57 21.433 False ENSG00000159267 ENSG00000159267 HGNC:4976 HOXA1 gene HOXA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome, 601536;Bosley-Salih-Alorainy syndrome, 601536 18412118;12833395 False 2 0;67;33 21.433 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPRT1 gene HPRT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, OMIM:300322 False 2 0;67;33 21.433 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSPD1 gene HSPD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 18571143;30083362 False 2 33;33;33 21.433 False ENSG00000144381 ENSG00000144381 HGNC:5261 IDH1 gene IDH1 Expert Review Amber;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875;metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941;Maffucci syndrome, OMIM:614569;Maffucci syndrome, MONDO:0013808;Ollier disease/ Dyschondroplasia, OMIM:166000;Ollier disease, MONDO:0008145 24049096;22025298;22057234;22057236;33340416 False 2 67;33;0 21.433 False ENSG00000138413 ENSG00000138413 HGNC:5382 IDS gene IDS Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females MPS II, Hunter disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 2;Mucopolysaccharidosis II, 309900;Mucopolysaccharidosis Type II 27604308 False 2 100;0;0 21.433 False ENSG00000010404 ENSG00000010404 HGNC:5389 ISPD gene ISPD Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643;Walker-Warburg syndrome 24120487 False 2 33;67;0 21.433 False ENSG00000214960 ENSG00000214960 HGNC:37276 JAK1 gene JAK1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999;autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558;dilated cardiomyopathy, MONDO:0005021 39472908;40744288 False 2 0;100;0 21.433 False ENSG00000162434 ENSG00000162434 HGNC:6190 JAKMIP1 gene JAKMIP1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071;seizures 29158550;26627310;27799067 False 2 0;100;0 21.433 False ENSG00000152969 ENSG00000152969 HGNC:26460 JKAMP gene JKAMP Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41643666 False 2 100;0;0 21.433 False ENSG00000050130 ENSG00000050130 HGNC:20184 JPH2 gene JPH2 Expert Review Amber;NHS GMS;South West GLH;London South GLH;Expert list;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, hypertrophic, 17, OMIM:613873 28393127;17509612;17476457;30681346;23973696;26869393;28393127;30235249 False 2 22;78;0 21.433 False ENSG00000149596 ENSG00000149596 HGNC:14202 KATNB1 gene KATNB1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, OMIM:616212, MONDO:0014534 25521378;25521379;26640080 False 2 50;0;50 21.433 False ENSG00000140854 ENSG00000140854 HGNC:6217 KBTBD13 gene KBTBD13 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy 6, autosomal dominant, OMIM:609273;intrinsic cardiomyopathy, MONDO:0000591 36335629 False 2 50;50;0 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000234438 ENSG00000234438 HGNC:37227 KCNB2 gene KCNB2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 38503299 False 2 0;100;0 21.433 False ENSG00000182674 ENSG00000182674 HGNC:6232 KCNE2 gene KCNE2 Expert Review Amber;South West GLH;London South GLH;North West GLH;Emory Genetics Laboratory;Expert list;UKGTN;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 6 (613693);Atrial fibrillation, familial, 4 (611493) 19716085;26888179;11468227 False 2 62;38;0 21.433 False ENSG00000159197 ENSG00000159197 HGNC:6242 KDM2A gene KDM2A Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092 41468891 False 2 100;0;0 21.433 False ENSG00000173120 ENSG00000173120 HGNC:13606 KIF1BP gene KIF1BP Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome 609460 15883926;28277559 False 2 67;33;0 21.433 True ENSG00000198954 ENSG00000198954 HGNC:23419 LARGE1 gene LARGE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 24709677 False 2 33;67;0 21.433 False ENSG00000133424 ENSG00000133424 HGNC:6511 LDB3 gene LDB3 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 21.433 False ENSG00000122367 ENSG00000122367 HGNC:15710 LDHD gene LDHD Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal D-lactic aciduria with susceptibility to gout, OMIM:245450;lactic aciduria due to D-lactic acid, MONDO:0009505 30931947;31638601;34258137;37021930 False 2 50;50;0 21.433 False ENSG00000166816 ENSG00000166816 HGNC:19708 LIPC gene LIPC Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hepatic lipase deficiency, 614025;[High density lipoprotein cholesterol level QTL 12] 612797;{Diabetes mellitus, noninsulin-dependent} 125853 27604308;1671786;12777476;22464213;23219720 False 2 0;0;0 21.433 False ENSG00000166035 ENSG00000166035 HGNC:6619 LIPT1 gene LIPT1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency 616299 24341803;29681092;31042466;24256811;27247813 False 2 0;100;0 21.433 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 617668 28757203;28803783 False 2 0;67;33 21.433 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMAN2L gene LMAN2L Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epilepsy 31020005;26566883 False 2 0;100;0 21.433 False ENSG00000114988 ENSG00000114988 HGNC:19263 LMNB1 gene LMNB1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly 26, primary, autosomal dominant, OMIM:619179 32910914;33033404 False 2 0;100;0 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113368 ENSG00000113368 HGNC:6637 LRPPRC gene LRPPRC Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111 12529507;26510951;22045337;24399447 False 2 75;25;0 21.433 False ENSG00000138095 ENSG00000138095 HGNC:15714 LYST gene LYST Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome 214500 False 2 33;67;0 21.433 True ENSG00000143669 ENSG00000143669 HGNC:1968 MANBA gene MANBA Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 2 0;100;0 21.433 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAST1 gene MAST1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Cerebellar hypoplasia, Abnormality of the cerebral cortex, Seizures;Global developmental delay, Intellectual disability, Microcephaly, Autism, Seizures 30449657;23934111 False 2 33;33;33 21.433 False ENSG00000105613 ENSG00000105613 HGNC:19034 MED17 gene MED17 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668 26004231;20950787;30345598 False 2 20;60;20 21.433 False ENSG00000042429 ENSG00000042429 HGNC:2375 MIB1 gene MIB1 Expert Review Amber;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 Left ventricular noncompaction 7, OMIM:615092 23314057 False 2 67;33;0 21.433 False ENSG00000101752 ENSG00000101752 HGNC:21086 MMACHC gene MMACHC Expert Review Amber;NHS GMS;South West GLH;MetBioNet;MetBioNet;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400;DCM;Methylmalonic aciduria;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Hypertrophic-hypocontractile cardiomyopathy 27604308 False 2 33;67;0 21.433 False ENSG00000132763 ENSG00000132763 HGNC:24525 MRPS14 gene MRPS14 Expert list;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 0;0;0 21.433 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2 610498 27604308;28749478;15505824 False 2 33;33;33 21.433 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25556185 False 2 50;0;50 21.433 False ENSG00000125445 ENSG00000125445 HGNC:14499 MT-ND5 gene MT-ND5 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL hypertrophic cardiomyopathy, MONDO:0005045 14520659;22759514;23847141;30587702 False 2 67;0;33 21.433 False ENSG00000198786 ENSG00000198786 HGNC:7461 MTR gene MTR Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;methionine synthase deficiency type cblG;seizures 25526710;9453374;12068375;9683607;28666289 False 2 33;67;0 21.433 False ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR2 gene MT-RNR2 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 2 50;50;0 21.433 False ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TI gene MT-TI Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL familial hypertrophic cardiomyopathy, MONDO:0024573;familial dilated cardiomyopathy, MONDO:0016333 12767666;21945886;23332932;29481798;30025578;39639347 False 2 40;60;0 21.433 True ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TL1 gene MT-TL1 Expert Review Amber;Expert Review;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;hypertrophic cardiomyopathy, MONDO:0005045 7473662;8477849;12874464;14673589;25639022;30888501;30133155 False 2 67;0;33 21.433 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TV gene MT-TV Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MELAS syndrome, MONDO:0010789;hypertrophic cardiomyopathy, MONDO:000504 15320572;21986556;34298071 False 2 100;0;0 21.433 False Other ENSG00000210077 ENSG00000210077 HGNC:7500 MYH6 gene MYH6 Expert Review Amber;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 14 (613251);Cardiomyopathy, dilated, 1EE (613252);{Sick sinus syndrome 3} (614090);Atrial septal defect 3 (614089);Cardiomyopathy, dilated, 1EE 15998695;27532257 False 2 20;20;60 21.433 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYLK2 gene MYLK2 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, 1, digenic (192600);Cardiomyopathy, hypertrophic, midventricular, digenic, 27532257;28369730;30681346 False 2 0;100;0 21.433 False ENSG00000101306 ENSG00000101306 HGNC:16243 MYLK3 gene MYLK3 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 29235529;31244672;32213617;32870709;30690923 False 2 67;33;0 21.433 False ENSG00000140795 ENSG00000140795 HGNC:29826 MYPN gene MYPN Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 2 0;100;0 21.433 False ENSG00000138347 ENSG00000138347 HGNC:23246 MYPN gene MYPN South West GLH;London South GLH;Expert list;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 Cardiomypathy, familial hypertrophic, 22, False 2 0;75;25 21.433 False ENSG00000138347 ENSG00000138347 HGNC:23246 MYZAP gene MYZAP Expert Review Amber;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021;Cardiomyopathy, dilated, 2K, OMIM:620894 34899865;35840178;38436102;20093627;24698889 False 2 0;0;100 21.433 False Other ENSG00000263155 ENSG00000263155 HGNC:43444 NAA10 gene NAA10 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Ogden syndrome, OMIM:300855 29748569 False 2 0;100;0 21.433 False ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787;hypertrophic cardiomyopathy, MONDO:0005045 33103328;39472908 False 2 0;100;0 21.433 False ENSG00000164134 ENSG00000164134 HGNC:30782 NAGLU gene NAGLU Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;Mucopolysaccharidosis Type IIIB;MUCOPOLYSACCHARIDOSIS TYPE 3B;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type III;MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses) 27604308 False 2 50;50;0 21.433 False ENSG00000108784 ENSG00000108784 HGNC:7632 NCDN gene NCDN Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;epilepsy 33711248 False 2 0;100;0 21.433 False ENSG00000020129 ENSG00000020129 HGNC:17597 NDP gene NDP Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 2 0;67;33 21.433 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDUFA1 gene NDUFA1 Expert Review Amber;MetBioNet;NHS GMS 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) Mitochondrial complex I deficiency, nuclear type 12, 301020 False 2 100;0;0 21.433 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, 618243 False 2 100;0;0 21.433 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA2 gene NDUFA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency 256000 28857146;18513682 False 2 0;100;0 21.433 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF2 gene NDUFAF2 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 False 2 100;0;0 21.433 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 19463981 False 2 33;67;0 21.433 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF3 gene NDUFAF3 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, 618240 False 2 100;0;0 21.433 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;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 15, 618237 19463981;28853723 False 2 0;100;0 21.433 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF4 gene NDUFAF4 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 False 2 100;0;0 21.433 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 616238 False 2 100;0;0 21.433 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFB3 gene NDUFB3 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 False 2 100;0;0 21.433 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB8 gene NDUFB8 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252 29429571;27290639 False 2 33;67;0 21.433 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFB9 gene NDUFB9 Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24 618245 22200994 False 2 100;0;0 21.433 False ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFS1 gene NDUFS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;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 5, OMIM:618226 11349233;20382551;25615419 False 2 33;67;0 21.433 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS1 gene NDUFS1 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 2 100;0;0 21.433 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 23266820;22036843;20819849;11220739;14749350 False 2 33;67;0 21.433 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 False 2 100;0;0 21.433 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010 False 2 100;0;0 21.433 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 15372108;19259137;27290639 False 2 33;67;0 21.433 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS6 gene NDUFS6 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, 618232 False 2 100;0;0 21.433 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 False 2 100;0;0 21.433 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS7 gene NDUFS7 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;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 3, 618224 10330338;17604671;17275378;15269216 False 2 0;100;0 21.433 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFV1 gene NDUFV1 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4, 618225 False 2 100;0;0 21.433 False ENSG00000167792 ENSG00000167792 HGNC:7716 NECAP1 gene NECAP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 21, 615833;Early onset epileptic encephalopathy (EOEE) 24399846;30525121;30626896 False 2 12;25;62 21.433 False ENSG00000089818 ENSG00000089818 HGNC:24539 NRAP gene NRAP Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 30384889;33534821;28611399;https://doi.org/10.1101/2020.10.12.20211474;32870709 False 2 67;33;0 21.433 False ENSG00000197893 ENSG00000197893 HGNC:7988 NRDC gene NRDC Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41734767 False 2 100;0;0 21.433 False ENSG00000078618 ENSG00000078618 HGNC:7995 NSF gene NSF Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 96, OMIM:619340 31675180;36645181 False 2 0;100;0 21.433 False ENSG00000073969 ENSG00000073969 HGNC:8016 NUBPL gene NUBPL Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, 618242 False 2 100;0;0 21.433 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUBPL gene NUBPL Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 20818383;23553477 False 2 33;67;0 21.433 False ENSG00000151413 ENSG00000151413 HGNC:20278 OPLAH gene OPLAH Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 5-oxoprolinase deficiency 260005 27604308;21651516;23430506;27477828 False 2 0;0;0 21.433 False ENSG00000178814 ENSG00000178814 HGNC:8149 OTX2 gene OTX2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 2 0;100;0 21.433 False ENSG00000165588 ENSG00000165588 HGNC:8522 PAICS gene PAICS Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 31600779;39604553;39726239 False 2 100;0;0 21.433 False ENSG00000128050 ENSG00000128050 HGNC:8587 PAK2 gene PAK2 Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Knobloch 2 syndrome, OMIM:618458 33693784;40247748 False 2 100;0;0 21.433 False ENSG00000180370 ENSG00000180370 HGNC:8591 PARP6 gene PARP6 Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Microcephaly 34067418 False 2 100;0;0 21.433 False ENSG00000137817 ENSG00000137817 HGNC:26921 PDLIM3 gene PDLIM3 Expert Review Amber;NHS GMS;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 25163546;17254821;31424159;30681346;26455666;20801532 False 2 33;33;33 21.433 False ENSG00000154553 ENSG00000154553 HGNC:20767 PDSS2 gene PDSS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 2 0;67;33 21.433 False ENSG00000164494 ENSG00000164494 HGNC:23041 PET100 gene PET100 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 2 67;33;0 21.433 False ENSG00000229833 ENSG00000229833 HGNC:40038 PET117 gene PET117 Expert list;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 2 0;0;0 21.433 False ENSG00000232838 ENSG00000232838 HGNC:40045 PEX1 gene PEX1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger) 214100;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539;Adrenoleukodystrophy 12402331;26387595;9398847;15098231;15301838;21844578;28432012;16141001 False 2 33;67;0 21.433 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) 614870 20695019;28784167 False 2 33;67;0 21.433 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) 614859 9090384;9354782 False 2 0;100;0 21.433 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) 614883 10332040;19449432 False 2 67;33;0 21.433 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX19 gene PEX19 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) 614886 10051604;20683989 False 2 67;33;0 21.433 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) 614866 1546315;14630978;14630978 False 2 67;33;0 21.433 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX3 gene PEX3 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 10958759;28673549 False 2 67;33;0 21.433 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger) 214110;Peroxisome biogenesis disorder 2B 202370;Rhizomelic chondrodysplasia punctata, type 5 616716 7719337;26220973 False 2 33;67;0 21.433 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) 614862;Peroxisome biogenesis disorder 4B 614863 8670792;8940266;10408779 False 2 67;33;0 21.433 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 1 215100 12325024;9090381;11781871;10083738 False 2 0;100;0 21.433 False ENSG00000112357 ENSG00000112357 HGNC:8860 PIGS gene PIGS Expert Review Amber;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 2 100;0;0 21.433 False ENSG00000087111 ENSG00000087111 HGNC:14937 PLD1 gene PLD1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiac valvular dysplasia 1, OMIM:212093;cardiac valvular defect, developmental, MONDO:0008913;neonatal cardiomyopathy 27799408;33645542;39472908;39681445 False 2 25;50;25 21.433 False ENSG00000075651 ENSG00000075651 HGNC:9067 PNPLA2 gene PNPLA2 Expert Review Amber;NHS GMS;South West GLH;MetBioNet;MetBioNet;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal DCM;Neutral lipid storage disease with myopathy NLSDM;Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes False 2 67;33;0 21.433 False ENSG00000177666 ENSG00000177666 HGNC:30802 POLG2 gene POLG2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 31286721;27592148;30157269;21555342 False 2 0;100;0 21.433 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMT2 gene POMT2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 22700954 False 2 33;33;33 21.433 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPP2R1A gene PPP2R1A Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Houge-Janssens syndrome 2, OMIM:616362;Houge-Janssens syndrome 2, MONDO:0014605 33106617 False 2 100;0;0 21.433 False ENSG00000105568 ENSG00000105568 HGNC:9302 PRICKLE1 gene PRICKLE1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 30564977;30345727;21276947;26727662;29790814;31875159;31035234;15634728;15642921;16376507;18976727;20301774 False 2 14;29;57 21.433 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRMT9 gene PRMT9 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41260215 False 2 100;0;0 21.433 False ENSG00000164169 ENSG00000164169 HGNC:25099 PRODH gene PRODH Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM:239500;hyperprolinemia type 1, MONDO:0009400 12217952;17412540;18197084 False 2 33;67;0 21.433 False ENSG00000100033 ENSG00000100033 HGNC:9453 PSAT1 gene PSAT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 2 0;67;33 21.433 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 25080166;26589312;14673469 False 2 0;67;33 21.433 False ENSG00000146733 ENSG00000146733 HGNC:9577 PSPH gene PSPH London North GLH;NHS GMS;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 27604308;24816252 False 2 0;100;0 21.433 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTF1A gene PTF1A Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pancreatic and cerebellar agenesis, 609069 21749365;15543146;19650412 False 2 0;100;0 21.433 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTPMT1 gene PTPMT1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39279645 False 2 0;100;0 21.433 False ENSG00000110536 ENSG00000110536 HGNC:26965 QDPR gene QDPR Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630;DHPR deficiency 9341885;26006720;25667865 False 2 33;67;0 21.433 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB11A gene RAB11A Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay, HP:0001263;Intellectual disability, HP:0001249;seizures 29100083;33875846 False 2 0;0;0 21.433 False ENSG00000103769 ENSG00000103769 HGNC:9760 RAB3GAP1 gene RAB3GAP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology False 2 0;67;33 21.433 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 False 2 0;100;0 21.433 False ENSG00000118873 ENSG00000118873 HGNC:17168 RANBP2 gene RANBP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to}, OMIM:608033 19118815;34377735;36621064;38050538;40538544 False 2 20;60;20 21.433 False ENSG00000153201 ENSG00000153201 HGNC:9848 RANBP2 gene RANBP2 Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute necrotizing encephalopathy (Other metabolic disorders) 27604308 False 2 100;0;0 21.433 False ENSG00000153201 ENSG00000153201 HGNC:9848 RASA2 gene RASA2 Expert Review Amber;NHS GMS;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome? PMID: 25049390 False 2 0;100;0 21.433 False ENSG00000155903 ENSG00000155903 HGNC:9872 RHBDF1 gene RHBDF1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 32870709 False 2 0;100;0 21.433 False ENSG00000007384 ENSG00000007384 HGNC:20561 RHBDF1 gene RHBDF1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 32870709 False 2 0;100;0 21.433 False ENSG00000007384 ENSG00000007384 HGNC:20561 RNASET2 gene RNASET2 London North GLH;NHS GMS;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism);Inherited white matter disorders 27604308 False 2 0;100;0 21.433 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF2 gene RNF2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy;intellectual disability;intrauterine growth retardation 33864376 False 2 0;100;0 21.433 False ENSG00000121481 ENSG00000121481 HGNC:10061 RNF220 gene RNF220 Other;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy,MONDO:0005021 33964137;10881263 False 2 100;0;0 21.433 False ENSG00000187147 ENSG00000187147 HGNC:25552 RNU4ATAC gene RNU4ATAC Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 21474761;23794361;22786707 False 2 33;33;33 21.433 False ENSG00000264229 ENSG00000264229 HGNC:34016 RPIA gene RPIA Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ribose 5-phosphate isomerase deficiency, OMIM:608611 14988808;20499043;28801340;30088433 False 2 0;67;33 21.433 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPL3L gene RPL3L Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2D, OMIM:619371 32514796;32870709;36291431;35323613;37308880;39803500;40820268 False 2 67;33;0 21.433 False ENSG00000140986 ENSG00000140986 HGNC:10351 RPS6KB1 gene RPS6KB1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy 34916228 False 2 100;0;0 21.433 False ENSG00000108443 ENSG00000108443 HGNC:10436 RPS6KC1 gene RPS6KC1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 41130203 False 2 100;0;0 21.433 False ENSG00000136643 ENSG00000136643 HGNC:10439 RRAGC gene RRAGC Expert Review Amber;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, hepatopathy and brain abnormalities 27234373;37057673 False 2 100;0;0 21.433 False ENSG00000116954 ENSG00000116954 HGNC:19902 RRAGD gene RRAGD NHS GMS;Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypomagnesaemia;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 34607910 False 2 50;50;0 21.433 False Other ENSG00000025039 ENSG00000025039 HGNC:19903 RRM2B gene RRM2B Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;seizures;status epilepticus 28482374;29241262;19138848;17486094 False 2 50;50;0 21.433 True ENSG00000048392 ENSG00000048392 HGNC:17296 RUSC2 gene RUSC2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology Mental retardation, autosomal recessive 61 617773 27612186 False 2 0;75;25 21.433 False ENSG00000198853 ENSG00000198853 HGNC:23625 RYR1 gene RYR1 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rhabdomyolysis and metabolic muscle disorders False 2 0;100;0 21.433 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 18483626;29667327;11208676;12093772;11157710;33897349 False 2 25;50;25 21.433 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR3 gene RYR3 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal idiopathic(non-lesional) partial epilepsy/susceptibility of seizures 25262651;29667327;29498452;31230720;39220738;39840699 False 2 12;25;62 21.433 False ENSG00000198838 ENSG00000198838 HGNC:10485 SAMD12 gene SAMD12 Expert Review Amber;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;30351492 False 2 50;50;0 21.433 False Other ENSG00000177570 ENSG00000177570 HGNC:31750 SCN1B gene SCN1B Expert Review Amber;South West GLH;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac conduction defect, nonspecific, OMIM:612838;Brugada syndrome 5, OMIM:612838;Atrial fibrillation, familial, 13, OMIM:615377 18464934;28878239;25426816 False 2 0;100;0 21.433 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN5A gene SCN5A South West GLH;North West GLH;Expert Review Amber;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular fibrillation, familial, 1 (603829);Brugada syndrome 1 (601144);{Sudden infant death syndrome, susceptibility to} (272120);Brugada syndrome 1 601144;Heart block, progressive, type IA (113900);Heart block, nonprogressive (113900);Sick sinus syndrome 1 (608567);Long QT syndrome-3 (603830);Cardiomyopathy, dilated, 1E (601154);Atrial fibrillation, familial, 10 (614022) 16301704;30420954;22490985 False 2 25;25;50 21.433 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCO1 gene SCO1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 23878101;11013136;19295170;15023375 False 2 33;67;0 21.433 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;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 1, 604377 10545952;10749987;18924171;15210538 False 2 33;67;0 21.433 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial respiratory chain complex II deficiency 252011 24367056;16361598 False 2 33;67;0 21.433 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHA gene SDHA Expert Review Amber;South West GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paragangliomas 5, 614165;Cardiomyopathy, dilated, 1GG, 613642;Mitochondrial Respiratory Chain Complex II Deficiency;Leigh syndrome, 256000;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial respiratory chain complex II deficiency, 252011;Isolated complex II deficiency;Cardiomyopathy, dilated, 1GG 27604308 False 2 100;0;0 21.433 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 22995659;26642834;19465911 False 2 75;0;25 21.433 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHAF2 gene SDHAF2 London North GLH;NHS GMS;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial Diseases;Isolated complex II deficiency;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Multiple Tumours 27604308 False 2 33;33;33 21.433 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC London North GLH;NHS GMS;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial Diseases;Isolated complex II deficiency;Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Multiple Tumours 27604308 False 2 50;50;0 21.433 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 26008905;24367056 False 2 100;0;0 21.433 False ENSG00000204370 ENSG00000204370 HGNC:10683 SGCD gene SGCD Expert Review Amber;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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287);Cardiomyopathy, dilated, 1L;Cardiomyopathy, dilated, 1L (606685) 19259135;20186049;27532257 False 2 20;60;20 21.433 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCD gene SGCD Expert Review Amber;NHS GMS;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1L, 606685 18779423;23900355;10735275 False 2 33;67;0 21.433 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGSH gene SGSH Expert Review Amber;NHS GMS;MetBioNet;MetBioNet Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis, Type III;MUCOPOLYSACCHARIDOSIS TYPE 3A;MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses);Mucopolysaccharidosis Type III;Mucopolysaccharidosis Type IIIA 27604308 False 2 50;50;0 21.433 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHMT2 gene SHMT2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 33015733 False 2 100;0;0 21.433 False ENSG00000182199 ENSG00000182199 HGNC:10852 SIX3 gene SIX3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 2 157170;Schizencephaly 269160 28670735;20157829;19346217;18791198 False 2 33;67;0 21.433 False ENSG00000138083 ENSG00000138083 HGNC:10889 SLC30A5 gene SLC30A5 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Perinatal lethal cardiomyopathy;cardiomyopathy, MONDO:0004994 33547425;12095919 False 2 0;100;0 21.433 False ENSG00000145740 ENSG00000145740 HGNC:19089 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 35913762;36562171 False 2 0;100;0 21.433 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092;Epilepsy, MONDO:0005027 35913762;36562171 False 2 0;100;0 21.433 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC35A1 gene SLC35A1 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, 603585;seizures 23873973;15576474;28856833;30115659;28856833 False 2 25;75;0 21.433 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A3 gene SLC35A3 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089;28328131;28777481;16344554 False 2 25;50;25 21.433 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC45A1 gene SLC45A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with neuropsychiatric features 617532 28434495;27431290 False 2 0;100;0 21.433 False ENSG00000162426 ENSG00000162426 HGNC:17939 SLC4A3 gene SLC4A3 Expert Review Amber;West Midlands, Oxford and Wessex GLH;South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short QT;ventricular fibrillation;cardiac arrest 29167417;29697308 False 2 20;60;20 21.433 False ENSG00000114923 ENSG00000114923 HGNC:11029 SLC6A6 gene SLC6A6 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Early retinal degeneration;cardiomyopathy 31345061;31903486;29886034;17875433;20804595 False 2 0;100;0 21.433 False ENSG00000131389 ENSG00000131389 HGNC:11052 SNF8 gene SNF8 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 38423010 False 2 0;100;0 21.433 False ENSG00000159210 ENSG00000159210 HGNC:17028 SNX27 gene SNX27 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Generalized hypotonia;Global developmental delay;Intellectual disability;Seizures 25894286;31721175;21300787;23524343 False 2 25;75;0 21.433 False ENSG00000143376 ENSG00000143376 HGNC:20073 SPEG gene SPEG Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021;Centronuclear myopathy 5, OMIM:615959 32925938;33794647;33926407 False 2 50;50;0 21.433 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPR gene SPR Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 16650784;21431957;28189489 False 2 25;75;0 21.433 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTBN4 gene SPTBN4 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;28940097;29861105;31230720;31857255 False 2 100;0;0 21.433 False ENSG00000160460 ENSG00000160460 HGNC:14896 SSR3 gene SSR3 Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 21.433 False ENSG00000114850 ENSG00000114850 HGNC:11325 STARD7 gene STARD7 Expert Review Amber;Other;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 11701600;24114805;31664034 False 2 0;0;0 21.433 False ENSG00000084090 ENSG00000084090 HGNC:18063 STAT2 gene STAT2 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44 616636;elongated mitochondria;severe neurological deterioration following viral infection PMID: 26122121 False 2 75;0;25 21.433 False ENSG00000170581 ENSG00000170581 HGNC:11363 SUCLG1 gene SUCLG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 28358460;27143079;26028457;27484306 False 2 33;67;0 21.433 False ENSG00000163541 ENSG00000163541 HGNC:11449 SURF1 gene SURF1 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 False 2 100;0;0 21.433 False ENSG00000148290 ENSG00000148290 HGNC:11474 SVIL gene SVIL Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypertrophic cardiomyopathy, MONDO:0005045 39966646;32779703;25633252 False 2 0;100;0 21.433 False ENSG00000197321 ENSG00000197321 HGNC:11480 SYNCRIP gene SYNCRIP Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Autism;Myoclonic atonic seizures;Abnormality of nervous system morphology 34157790;30504930;27479843;23020937 False 2 0;100;0 21.433 False ENSG00000135316 ENSG00000135316 HGNC:16918 TAB2 gene TAB2 London South GLH;NHS GMS;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, nonsyndromic, 2, OMIM:614980 28464518;29700987;32183715;34456334;34990405;34741306;36000780;37153890 False 2 33;33;33 21.433 False ENSG00000055208 ENSG00000055208 HGNC:17075 TANC2 gene TANC2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with autistic features and language delay, with or without seizures, OMIM:618906;intellectual developmental disorder with autistic features and language delay, with or without seizures, MONDO:0030051 31616000;34861844;40110879 False 2 100;0;0 21.433 False ENSG00000170921 ENSG00000170921 HGNC:30212 TAX1BP3 gene TAX1BP3 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy 39963794 False 2 0;100;0 21.433 False ENSG00000213977 ENSG00000213977 HGNC:30684 TBC1D20 gene TBC1D20 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4, 615663;seizures 24239381 False 2 33;67;0 21.433 False ENSG00000125875 ENSG00000125875 HGNC:16133 TBX5 gene TBX5 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, OMIM:142900;Dilated cardiomyopathy 32449309;32236096;25963046;25725155 False 2 50;50;0 21.433 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBX5 gene TBX5 Expert Review Amber;South West GLH;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, OMIM:142900 29755943 False 2 40;60;0 21.433 False ENSG00000089225 ENSG00000089225 HGNC:11604 TCAP gene TCAP Expert Review Amber;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 25 (607487);Cardiomyopathy, dilated, 1N;Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) 15582318;20186049;27532257 False 2 20;40;40 21.433 False ENSG00000173991 ENSG00000173991 HGNC:11610 TCP1 gene TCP1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021;intellectual developmental disorder with polymicrogyria and seizures, MONDO:0976124 39480921 False 2 100;0;0 21.433 False ENSG00000120438 ENSG00000120438 HGNC:11655 TECRL gene TECRL Expert Review Amber;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 False 2 0;100;0 21.433 False ENSG00000205678 ENSG00000205678 HGNC:27365 TEFM gene TEFM Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, OMIM:620451 36823193 False 2 50;50;0 21.433 False ENSG00000172171 ENSG00000172171 HGNC:26223 TELO2 gene TELO2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome 616954 27132593;28944240 False 2 0;100;0 21.433 False ENSG00000100726 ENSG00000100726 HGNC:29099 TET3 gene TET3 NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Beck-Fahrner syndrome OMIM:618798 31928709 False 2 33;67;0 21.433 False ENSG00000187605 ENSG00000187605 HGNC:28313 TKFC gene TKFC Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, OMIM:618805;triokinase and FMN cyclase deficiency syndrome, MONDO:0032927;cardiomyopathy, MONDO:0004994 32004446;39251934;39472908 False 2 0;100;0 21.433 False ENSG00000149476 ENSG00000149476 HGNC:24552 TKFC gene TKFC Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 21.433 False ENSG00000149476 ENSG00000149476 HGNC:24552 TMEM106B gene TMEM106B Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;32595021 False 2 0;100;0 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM126B gene TMEM126B Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29, 618250 27374773;27374774 False 2 60;40;0 21.433 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM65 gene TMEM65 Expert list;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal TMEM65 related mitochondrial encephalopmyopathy 28295037 False 2 0;0;0 21.433 False ENSG00000164983 ENSG00000164983 HGNC:25203 TMEM70 gene TMEM70 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;seizures 18953340;21147908;20335238;24485043 False 2 33;67;0 21.433 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNK2 gene TNK2 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal severe autosomal recessive infantile onset epilepsy;EE 27977884;23686771 False 2 33;67;0 21.433 False ENSG00000061938 ENSG00000061938 HGNC:19297 TOR1AIP1 gene TOR1AIP1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072;Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 24856141;27342937;32055997;25425325 False 2 100;0;0 21.433 False ENSG00000143337 ENSG00000143337 HGNC:29456 TRAF7 gene TRAF7 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac, facial, and digital anomalies with developmental delay, 618164;Global developmental delay;Abnormal heart morphology;Abnormality of digit;Abnormality of limbs 29961569;27479843;28135719;25363760;25961944 False 2 33;67;0 21.433 True ENSG00000131653 ENSG00000131653 HGNC:20456 TRAPPC11 gene TRAPPC11 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 0;100;0 21.433 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC6B gene TRAPPC6B Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, OMIM:617862 28626029;28397838;31687267 False 2 50;50;0 21.433 True ENSG00000182400 ENSG00000182400 HGNC:23066 TRDN gene TRDN Expert Review Amber;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Long QT syndrome 31983240;25922419 False 2 100;0;0 21.433 False ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750;Aicardi-Goutieres syndrome 1, MONDO:0009165;cardiomyopathy, MONDO:0004994 15254239;36581356;39472908 False 2 0;100;0 21.433 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIP13 gene TRIP13 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, 617598 False 2 0;100;0 21.433 False ENSG00000071539 ENSG00000071539 HGNC:12307 TRPM4 gene TRPM4 South West GLH;London South GLH;Expert Review Amber;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive familial heart block, type IB, OMIM:604559 19726882;20562447;21887725;29748318;30021168;29568272 False 2 50;50;0 21.433 False ENSG00000130529 ENSG00000130529 HGNC:17993 TRRAP gene TRRAP Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Expert Review Amber;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly;Seizures;Abnormal heart morphology;Autism;Developmental delay with or without dysmorphic facies and autism, 618454;Intellectual disability;Abnormality of the urinary system;Global developmental delay 30827496;28628100 False 2 25;75;0 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196367 ENSG00000196367 HGNC:12347 TSEN15 gene TSEN15 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 25558065;27392077 False 2 25;75;0 21.433 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, 612389 False 2 33;67;0 21.433 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 2C, 612390 18711368;20952379 False 2 0;67;33 21.433 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSFM gene TSFM Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;seizures 17033963;21119709 False 2 33;67;0 21.433 False ENSG00000123297 ENSG00000123297 HGNC:12367 TUBA8 gene TUBA8 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 8, 613180;seizures 19896110;27781032;29588952;25008804;27781032;28007376 False 2 0;100;0 21.433 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 6, 615771 False 2 33;67;0 21.433 False ENSG00000196230 ENSG00000196230 HGNC:20778 TULP3 gene TULP3 Expert Review Amber;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, OMIM:619902 35397207;36460032 False 2 50;0;50 21.433 False ENSG00000078246 ENSG00000078246 HGNC:12425 TXNRD1 gene TXNRD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal genetic generalized epilepsy 28232204;18350150 False 2 0;100;0 21.433 False ENSG00000198431 ENSG00000198431 HGNC:12437 UFC1 gene UFC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spasticity and poor growth, 618076 29868776;27431290 False 2 33;67;0 21.433 False ENSG00000143222 ENSG00000143222 HGNC:26941 UQCC2 gene UQCC2 Expert Review Amber;MetBioNet;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 28804536;24385928 False 2 50;50;0 21.433 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCC3 gene UQCC3 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex III deficiency, nuclear type, 616111;Isolated complex III deficiency 28804536;25008109 False 2 100;0;0 21.433 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 21.433 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRQ gene UQCRQ Expert Review Amber;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546;27604308 False 2 100;0;0 21.433 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 London North GLH;NHS GMS;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) 27604308;19304569;30619714 False 2 0;100;0 21.433 False ENSG00000159650 ENSG00000159650 HGNC:26444 USP7 gene USP7 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hao-Fountain syndrome, 616863 19946331;26365382;30679821;33012787 False 2 25;75;0 21.433 True ENSG00000187555 ENSG00000187555 HGNC:12630 VLDLR gene VLDLR Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 27000652;27108886;27251579;16174313;16080122;18326629 False 2 0;100;0 21.433 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS50 gene VPS50 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neonatal cholestatic liver disease;Failure to thrive;Profound global developmental delay;Postnatal microcephaly;Seizures;Abnormality of the corpus callosum 34037727 False 2 0;100;0 21.433 False ENSG00000004766 ENSG00000004766 HGNC:25956 WDR62 gene WDR62 Expert Review Amber;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317 21834044;20890278;20729831;28377545;10573015;20890279;30500859 False 2 33;67;0 21.433 True ENSG00000075702 ENSG00000075702 HGNC:24502 WSB2 gene WSB2 Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 40374945 False 2 100;0;0 21.433 False ENSG00000176871 ENSG00000176871 HGNC:19222 XK gene XK Expert Review Amber;Expert list 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) McLeod syndrome with or without chronic granulomatous disease, OMIM:300842;McLeod neuroacanthocytosis syndrome, MONDO:0018945 11761473;30128557;8004674;8619554 False 2 50;50;0 21.433 False ENSG00000047597 ENSG00000047597 HGNC:12811 YIF1B gene YIF1B Expert Review Amber;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, OMIM:619125 32006098 False 2 0;100;0 21.433 False ENSG00000167645 ENSG00000167645 HGNC:30511 YME1L1 gene YME1L1 Expert list;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 27495975 False 2 0;0;0 21.433 False ENSG00000136758 ENSG00000136758 HGNC:12843 ZMIZ1 gene ZMIZ1 Wessex and West Midlands GLH;NHS GMS;Expert Review Amber;Expert Review;Expert Review Amber;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Feeding difficulties;Growth abnormality;Microcephaly;Abnormality of the skeletal system;Abnormality of the urinary system;Abnormality of the cardiovascular system;Abnormality of head or neck;Seizures 18053775;27479843;29754769;17967885;26163108 False 2 0;100;0 21.433 False ENSG00000108175 ENSG00000108175 HGNC:16493 ZMYM2 gene ZMYM2 Literature;Expert Review Amber Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 32891193 False 2 33;67;0 21.433 False ENSG00000121741 ENSG00000121741 HGNC:12989