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 AARS gene AARS Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 29, OMIM:616339;Developmental and epileptic encephalopathy, 29, MONDO:0014593 25817015;28493438 False 3 67;33;0 21.433 False ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 NHS GMS;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096;infantile mitochondrial cardiomyopathy;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25058219;21549344 False 3 100;0;0 21.433 False ENSG00000124608 ENSG00000124608 HGNC:21022 AARS2 gene AARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 8, 614096;infantile mitochondrial cardiomyopathy 27604308 False 3 100;0;0 21.433 False ENSG00000124608 ENSG00000124608 HGNC:21022 AASS gene AASS Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 23890588;10775527;27604308;23570448 False 3 100;0;0 21.433 False ENSG00000008311 ENSG00000008311 HGNC:17366 AASS gene AASS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 23890588;10775527;27604308;23570448 False 3 0;100;0 21.433 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency 613163 20052547;27376954;27903293;10407778 False 3 75;25;0 21.433 False ENSG00000183044 ENSG00000183044 HGNC:23 ABAT gene ABAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 613163;GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate);mtDNA depletion syndrome 27604308 False 3 75;0;25 21.433 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCA1 gene ABCA1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Tangier disease (Disorders of high density lipoprotein metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000165029 ENSG00000165029 HGNC:29 ABCB11 gene ABCB11 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport);Cholestasis, benign recurrent intrahepatic, 2 605479;Cholestasis, progressive familial intrahepatic 2 601847 27604308 False 3 100;0;0 21.433 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gallbladder disease 1 600803 AD, AR;Cholestasis, progressive familial intrahepatic 3 602347 AR;Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport);Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR 27604308 False 3 100;0;0 21.433 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia OMIM:301310;X-linked sideroblastic anemia with ataxia MONDO:0010524 27604308 False 3 50;0;50 21.433 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC9 gene ABCC9 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant;Cardiomyopathy, dilated, 1O 15034580 False 3 75;25;0 21.433 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCD1 gene ABCD1 London North GLH;NHS GMS;Expert Review Green 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) Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100 27604308 False 3 0;100;0 21.433 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type 27604308;23141461;25234635 False 3 0;0;0 21.433 False ENSG00000119688 ENSG00000119688 HGNC:68 ABCG5 gene ABCG5 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 3 100;0;0 21.433 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 3 100;0;0 21.433 False ENSG00000143921 ENSG00000143921 HGNC:13887 ABHD12 gene ABHD12 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hereditary ataxia;Posterior segment abnormalities;Congenital hearing impairment (profound/severe);PHARC syndrome (Disorders of complex lipid synthesis) 27604308 False 3 100;0;0 21.433 False ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD5 gene ABHD5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome 275630;Neutral lipid storage disease (Disorders of lipolysis) 27604308 False 3 100;0;0 21.433 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACACA gene ACACA NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Acetyl-CoA carboxylase deficiency, OMIM: 613933 6114432;34552920;36709796 False 3 50;50;0 21.433 False ENSG00000132142 ENSG00000278540 HGNC:84 ACAD8 gene ACAD8 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Isobutyric aciduria (Organic acidurias) 27604308 False 3 100;0;0 21.433 False ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency;ACAD9 deficiency, 611126;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACAD9 gene ACAD9 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, 611126 False 3 100;0;0 21.433 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of;Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308;24816252 False 3 33;33;33 21.433 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of 27604308;24816252 False 3 0;0;100 21.433 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria 610006;2-Methylbutyric aciduria (Organic acidurias) 27604308 False 3 0;0;100 21.433 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL NHS GMS;South West GLH;MetBioNet;Expert Review Green;Expert Review Green;MetBioNet;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency;Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation);syndromic HCM;Liver disease, hepatomegaly, hypoketotic hypoglycaemia;Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form);DCM, mixed;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;24285112;9973285 False 3 100;0;0 21.433 False ENSG00000072778 ENSG00000072778 HGNC:92 ACADVL gene ACADVL NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency;Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308 False 3 50;0;50 21.433 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism);Fasting intolerance with acidosis, ? residual neurological problems;3-Oxothiolase deficiency (Organic acidurias) 27604308 False 3 0;0;100 21.433 False ENSG00000075239 ENSG00000075239 HGNC:93 ACO2 gene ACO2 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 34056600 False 3 100;0;0 21.433 False ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services 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 Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470;Mitchell syndrome, OMIM:618960 18536048;32169171 False 3 67;33;0 21.433 False ENSG00000161533 ENSG00000161533 HGNC:119 ACOX1 gene ACOX1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 27604308 False 3 0;0;0 21.433 False ENSG00000161533 ENSG00000161533 HGNC:119 ACOX2 gene ACOX2 Expert Review Green;NHS GMS;ClinGen;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 6, OMIM:617308 27647924;27884763;29287774;33340570;35395098 False 3 100;0;0 21.433 False ENSG00000168306 ENSG00000168306 HGNC:120 ACSF3 gene ACSF3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria, OMIM:614265 21785126;26915364;30740739;26827111;27604308;21841779 False 3 0;100;0 21.433 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACTA1 gene ACTA1 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021;Hypertrophic cardiomyopathy, MONDO:0005045;Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800;CMD with rigid spine;Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 26888179;16945537;32969603;30354303;30195123;21570694 False 3 100;0;0 21.433 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTC1 gene ACTC1 Expert Review Green;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, 11 (612098);Left ventricular noncompaction 4 (613424);Cardiomyopathy, dilated, 1R (613424);Cardiomyopathy, dilated, 1R;Atrial septal defect 5 (612794) 26061005;27532257 False 3 50;17;33 21.433 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTC1 gene ACTC1 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic Cardiomyopathy;Cardiomyopathy, familial hypertrophic, 11;Cardiomyopathy, dilated, 1R;Left Ventricular Noncompaction Cardiomyopathy;Left ventricular noncompaction 4 False 3 100;0;0 21.433 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTC1 gene ACTC1 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 11 ;Atrial septal defect 5 (612794);Left ventricular noncompaction 4 (613424);Cardiomyopathy, hypertrophic, 11 (612098);Cardiomyopathy, dilated, 1R (613424);Hypertrophic Cardiomyopathy 27532257;28369730;30681346 False 3 83;17;0 21.433 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTL6B gene ACTL6B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 76, OMIM:618468 31031012;30656450;26539891;27171548;30237576 False 3 67;33;0 21.433 False ENSG00000077080 ENSG00000077080 HGNC:160 ACTN2 gene ACTN2 Expert Review Green;UKGTN;South West 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158);Cardiomyopathy, dilated, 1AA, with or without LVNC (612158);Dilated Cardiomyopathy, Dominant 25224718;27532257;26312134 False 3 43;43;14 21.433 False ENSG00000077522 ENSG00000077522 HGNC:164 ACTN2 gene ACTN2 Expert Review Green;South West GLH;London South GLH;Wessex and West Midlands GLH;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1AA, with or without LVNC 612158;Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158 25224718;25173926;20022194;27287556 False 3 14;86;0 21.433 False ENSG00000077522 ENSG00000077522 HGNC:164 ACTN2 gene ACTN2 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant False 3 100;0;0 21.433 False ENSG00000077522 ENSG00000077522 HGNC:164 ACY1 gene ACY1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Aminoacylase 1 deficiency (Organic acidurias) 27604308 False 3 100;0;0 21.433 False ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, OMIM:102700;Adenosine deaminase deficiency, partial, OMIM:102700 27604308 False 3 100;0;0 21.433 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAR gene ADAR Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 27937139;24011626 False 3 67;33;0 21.433 False ENSG00000160710 ENSG00000160710 HGNC:225 ADAR gene ADAR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 27604308;12916015;23001123 False 3 0;0;0 21.433 False ENSG00000160710 ENSG00000160710 HGNC:225 ADARB1 gene ADARB1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, microcephaly, and seizures, 618862 32220291;32719099 False 3 100;0;0 21.433 False ENSG00000197381 ENSG00000197381 HGNC:226 ADGRG1 gene ADGRG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, 606854 False 3 67;33;0 21.433 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADPRHL2 gene ADPRHL2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30100084;30401461;39580621 False 3 50;50;0 21.433 False ENSG00000116863 ENSG00000116863 HGNC:21304 ADSL gene ADSL Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epileptic encephalopathy;Adenylosuccinate lyase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000239900 ENSG00000239900 HGNC:291 ADSL gene ADSL Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513 False 3 83;17;0 21.433 False ENSG00000239900 ENSG00000239900 HGNC:291 ADSSL1 gene ADSSL1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, 5, OMIM:617030;myopathy, distal, 5, MONDO:0014877;hypertrophic cardiomyopathy, MONDO:0005045 32646962;39472908;40302423 False 3 100;0;0 21.433 False ENSG00000185100 ENSG00000185100 HGNC:20093 AFF3 gene AFF3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KINSSHIP syndrome, OMIM:619297 18616733;21677750;25660031;31388108;33961779 False 3 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 ENSG00000144218 ENSG00000144218 HGNC:6473 AFG3L2 gene AFG3L2 London North GLH;NHS GMS;Expert Review Green 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 Optic atrophy 12, OMIM:618977;Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 27604308 False 3 100;0;0 21.433 False ENSG00000141385 ENSG00000141385 HGNC:315 AGA gene AGA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria 27604308 False 3 0;0;0 21.433 False ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 10;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis);Sengers syndrome, 212350;Sengers syndrome 212350;Disorders of mitochondrial lipid metabolism;Cataract 38, autosomal recessive, 614691 27604308 False 3 100;0;0 21.433 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGK gene AGK NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, 212350 False 3 100;0;0 21.433 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type III, Cori (Glycogen storage disorders);Glycogen storage disease IIIb, 232400;Glycogen Storage Disorders- Liver;Glycogen Storage Disease;myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance;Glycogen Storage Disease Type III;Glycogen Storage Disorders- Muscle;Glycogen storage disease IIIa, 232400 27604308 False 3 100;0;0 21.433 False ENSG00000162688 ENSG00000162688 HGNC:321 AGO1 gene AGO1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292 25356899;30213762;34930816 False 3 100;0;0 21.433 False ENSG00000092847 ENSG00000092847 HGNC:3262 AGPS gene AGPS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 600121;Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) 27604308 False 3 0;0;0 21.433 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Primary hyperoxaluria type I (Other peroxisomal disorders);Primary hyperoxaluria type I (Disorders of glyoxylate metabolism);Hyperoxaluria, primary, type 1 27604308 False 3 0;0;0 21.433 False ENSG00000172482 ENSG00000172482 HGNC:341 AHCY gene AHCY Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752;Disorders of the metabolism of sulphur amino acids 15024124;16435181;16736098;20852937;22959829;26095522;26527160;28779239;30121674;31957987 False 3 50;0;50 21.433 False ENSG00000101444 ENSG00000101444 HGNC:343 AIFM1 gene AIFM1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial apoptosis;Cowchock syndrome, 310490;Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 6, 300816 27604308 False 3 100;0;0 21.433 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIFM1 gene AIFM1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, OMIM:300816;severe X-linked mitochondrial encephalomyopathy, MONDO:0010437 22019070;28967629;34117073;39472908 False 3 100;0;0 21.433 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, OMIM:260600 False 3 67;33;0 21.433 False ENSG00000164022 ENSG00000164022 HGNC:10648 AKR1D1 gene AKR1D1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis);Bile acid synthesis defect, congenital, 2 235555 27604308;24816252 False 3 100;0;0 21.433 False ENSG00000122787 ENSG00000122787 HGNC:388 AKT3 gene AKT3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 21159799;22729224 False 3 67;33;0 21.433 False ENSG00000117020 ENSG00000117020 HGNC:393 ALAD gene ALAD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal {Lead poisoning, susceptibility to} 612740;Acute hepatic porphyria (Acute neuropathic porphyrias);Porphyria, acute hepatic 612740 27604308 False 3 100;0;0 21.433 False ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Green;Expert list;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) Anemia, sideroblastic, 1, OMIM:300751;Protoporphyria, erythropoietic, X-linked, OMIM:300752 27604308 False 3 100;0;0 21.433 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH18A1 gene ALDH18A1 Expert list;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal dominant 3 OMIM:616603;cutis laxa, autosomal dominant 3 MONDO:0014706;Cutis laxa, autosomal recessive, type IIIA OMIM:219150;ALDH18A1-related de Barsy syndrome MONDO:0009053;Spastic paraplegia 9A, autosomal dominant OMIM:601162;hereditary spastic paraplegia 9A MONDO:0011006;Spastic paraplegia 9B, autosomal recessive OMIM:616586;autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 27604308;24816252;29903433;11092761;22170564;26320891 False 3 100;0;0 21.433 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 27604308 False 3 100;0;0 21.433 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Hyperprolinaemia type II (Disorders of ornithine or proline metabolism);Hyperprolinemia, type II 27604308 False 3 0;0;0 21.433 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083 9683595;14635103;32402538 False 3 67;33;0 21.433 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH5A1 gene ALDH5A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083 27604308;9683595;14635103;32402538 False 3 0;0;0 21.433 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonate semialdehyde dehydrogenase deficiency 614105;3-Hydroxyisobutyric aciduria (Organic acidurias);Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) 27604308 False 3 100;0;0 21.433 False ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent 266100 16491085;17068770;17721876 False 3 29;14;57 21.433 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDH7A1 gene ALDH7A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent 27604308 False 3 0;0;0 21.433 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Aldolase A deficiency (Glycogen storage disorders);Glycogen storage disease XII, 611881 27604308 False 3 100;0;0 21.433 False ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal hereditary fructose intolerance;Hereditary fructose intolerance (Disorders of fructose metabolism);acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation 27604308 False 3 0;0;0 21.433 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik 608540 False 3 67;33;0 21.433 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG1 gene ALG1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ik 608540 22966035;14973782;26931382 False 3 0;0;0 21.433 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ALG11-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ip 613661 27604308 False 3 0;0;0 21.433 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG11 gene ALG11 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip False 3 67;33;0 21.433 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143;Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) 27604308;17506107;11983712 False 3 0;0;0 21.433 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green 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;Infantile spasms and LGS 23033978;23934111 False 3 83;17;0 21.433 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome;?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 28733338;23404334;30221345 False 3 100;0;0 21.433 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG14 gene ALG14 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308;28733338;23404334;30221345 False 3 100;0;0 21.433 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id 601110 False 3 67;33;0 21.433 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG3 gene ALG3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Id 601110;Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation);ALG3-CDG (Disorders of protein N-glycosylation) 15108280;19862844 False 3 0;0;0 21.433 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147 False 3 67;33;0 21.433 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG6 gene ALG6 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147;Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 21.433 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih 608104 26066342;23430830;19688606 False 3 50;25;25 21.433 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG8 gene ALG8 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ih 608104 27604308 False 3 0;0;0 21.433 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type Il 608776 False 3 67;33;0 21.433 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALG9 gene ALG9 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation);ALG9-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Il 608776 27604308 False 3 0;0;0 21.433 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALKBH8 gene ALKBH8 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 71, OMIM:618504 31079898;33544954;34757492;35571055 False 3 50;50;0 21.433 False ENSG00000137760 ENSG00000137760 HGNC:25189 ALMS1 gene ALMS1 NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal OMIM 203800 15689433 False 3 100;0;0 21.433 False ENSG00000116127 ENSG00000116127 HGNC:428 ALPK3 gene ALPK3 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, 618052 26846950;34263907;32480058 False 3 100;0;0 21.433 False ENSG00000136383 ENSG00000136383 HGNC:17574 ALPK3 gene ALPK3 NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, OMIM:618052 26846950;27106955;32480058;28630369;30046096;31074094;21441111;34263907;35583889 False 3 100;0;0 21.433 False ENSG00000136383 ENSG00000136383 HGNC:17574 ALPL gene ALPL Expert Review Green;London North GLH;NHS GMS 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 Hypophosphatasia, adult, OMIM:146300;Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500;Odontohypophosphatasia, OMIM:146300 27604308;11745997;1409720;17213282 False 3 0;0;0 21.433 False ENSG00000162551 ENSG00000162551 HGNC:438 ALPL gene ALPL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500 11999978;28802630;23479201;27086862;30655187;30083035;30979546 False 3 60;40;0 21.433 False ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 21.433 False ENSG00000242110 ENSG00000242110 HGNC:451 AMN gene AMN London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism);Proteinuric renal disease;Unexplained kidney failure in young people 27604308 False 3 0;0;0 21.433 False ENSG00000166126 ENSG00000166126 HGNC:14604 AMPD2 gene AMPD2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9 615809 False 3 67;33;0 21.433 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 27604308 False 3 0;0;0 21.433 False ENSG00000145020 ENSG00000145020 HGNC:473 AMT gene AMT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 605899 False 3 67;33;0 21.433 False ENSG00000145020 ENSG00000145020 HGNC:473 ANK2 gene ANK2 Expert Review Green;NHS GMS;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 37195288 False 3 100;0;0 21.433 False ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD11 gene ANKRD11 Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, 148050 29565525;30182498 False 3 100;0;0 21.433 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANO10 gene ANO10 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, 613728 False 3 50;0;50 21.433 False ENSG00000160746 ENSG00000160746 HGNC:25519 ANO4 gene ANO4 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown sporadic encephalopathic and familial epilepsy 38744284 False 3 100;0;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 ENSG00000151572 ENSG00000151572 HGNC:23837 AP1G1 gene AP1G1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (NDD);Intellectual Disability;Epilepsy 34102099 False 3 100;0;0 21.433 False ENSG00000166747 ENSG00000166747 HGNC:555 AP2M1 gene AP2M1 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder 60 with seizures, 618587;Seizures;Ataxia;Generalized hypotonia;Intellectual disability;Global developmental delay;Autistic behavior 31104773 False 3 75;25;0 21.433 False Other ENSG00000161203 ENSG00000161203 HGNC:564 AP3B2 gene AP3B2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 48 617276 27889060 False 3 75;25;0 21.433 False ENSG00000103723 ENSG00000103723 HGNC:567 APC2 gene APC2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 10 OMIM:618677 31585108;25753423;19759310;22573669 False 3 50;50;0 21.433 False ENSG00000115266 ENSG00000115266 HGNC:24036 APOA1 gene APOA1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyloidosis, 3 or more types OMIM:105200;familial visceral amyloidosis MONDO:0007099;ApoA-I and apoC-III deficiency, combined OMIM:618463;Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766 27604308;26515634;12050338;32022753 False 3 100;0;0 21.433 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 London North GLH;NHS GMS;Expert Review Green 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 Hyperchylomicronemia, late-onset OMIM:144650;hyperlipoproteinemia type V MONDO:0007762;{Hypertriglyceridemia, susceptibility to} OMIM:145750;hypertriglyceridemia, familial MONDO:0007788 27604308;27678447;16200213;12417525;23307945 False 3 100;0;0 21.433 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercholesterolemia, familial, 2 OMIM:144010;hypercholesterolemia, autosomal dominant, type B MONDO:0007751;Hypobetalipoproteinemia OMIM:615558;familial hypobetalipoproteinemia 1 MONDO:0014252 27604308 False 3 100;0;0 21.433 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type Ib 207750;Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) 27604308 False 3 100;0;0 21.433 False ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias);Hyperlipoproteinemia, type III 617347;Sea-blue histiocyte disease 269600;Lipoprotein glomerulopathy 611771 27604308;24816252 False 3 100;0;0 21.433 False ENSG00000130203 ENSG00000130203 HGNC:613 APOPT1 gene APOPT1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061;Isolated complex IV deficiency False 3 100;0;0 21.433 False ENSG00000256053 ENSG00000256053 HGNC:20492 APRT gene APRT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency 614723;Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Ataxia with oculomotor apraxia 1;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920;Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 50;0;50 21.433 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARF1 gene ARF1 NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periventricular nodular heterotopia 8, OMIM:618185 28868155;34353862 False 3 100;0;0 21.433 False ENSG00000143761 ENSG00000143761 HGNC:652 ARF3 gene ARF3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability, MONDO:0001071;Seizures;Morphological abnormality of the central nervous system;microcephaly, MONDO:0001149 34346499;36369169 False 3 100;0;0 21.433 False ENSG00000134287 ENSG00000134287 HGNC:654 ARFGEF1 gene ARFGEF1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability, MONDO:0001071;Epilepsy, MONDO:0005027;Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures, OMIM:619964 34113008 False 3 100;0;0 21.433 False ENSG00000066777 ENSG00000066777 HGNC:15772 ARFGEF2 gene ARFGEF2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly 608097 False 3 67;33;0 21.433 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 26310552;1463019 False 3 67;33;0 21.433 False ENSG00000118520 ENSG00000118520 HGNC:663 ARG1 gene ARG1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Argininaemia (Urea cycle disorders and inherited hyperammonaemias);Argininemia, OMIM:207800 27604308 False 3 0;0;0 21.433 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGEF9 gene ARHGEF9 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert 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) Developmental and epileptic encephalopathy 8, OMIM:300607 21633362;15215304;17893116 False 3 86;14;0 21.433 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1B gene ARID1B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1, 135900 22405089 False 3 75;25;0 21.433 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARSA gene ARSA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy 27604308;24816252 False 3 0;0;0 21.433 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 6;Mucopolysaccharidosis, Type VI;Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200;Mucopolysaccharidosis Type VI;MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) 27604308 False 3 0;0;0 21.433 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive 302950 False 3 0;0;0 21.433 False ENSG00000157399 ENSG00000157399 HGNC:719 ARSG gene ARSG Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV, OMIM:618144;usher syndrome, type 4, MONDO:0029141 26975023;20679209;25452429;33300174 False 3 67;0;33 21.433 False ENSG00000141337 ENSG00000141337 HGNC:24102 ARSK gene ARSK Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis, type X, OMIM:619698;mucopolysaccharidosis, type 10, MONDO:0030524 34916232;35959767;38292179 False 3 50;50;0 21.433 False ENSG00000164291 ENSG00000164291 HGNC:25239 ARV1 gene ARV1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 38 617020 27270415;25558065;26479315 False 3 50;50;0 21.433 False ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 1 308350;Hydranencephaly with abnormal genitalia 300215;Lissencephaly, X-linked 2 300215;Mental retardation, X-linked 29 and others 300419;Partington syndrome 309510;Proud syndrome 300004 Tsurusaki et al (2002) Nature 30: 441-445;Kato et al (2004) Hum Mut 23: 147-159;Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991;Partington et al (1998) Am J Med Genet 30: 251-262;35094084 False 3 83;17;0 21.433 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404 Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, 159950;SMA with myoclonic epilepsy 8955159;22703880;29169047;24164096;30291339;27026573;29169047;30291339;26526000;25578555;31216804;27723502 False 3 67;33;0 21.433 True ENSG00000104763 ENSG00000104763 HGNC:735 ASAH1 gene ASAH1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability 27604308;29169047;22703880;24164096 False 3 0;0;0 21.433 False ENSG00000104763 ENSG00000104763 HGNC:735 ASH1L gene ASH1L NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 52, OMIM:617796 34373061;25961944;34782621;32469098 False 3 67;33;0 21.433 False ENSG00000116539 ENSG00000116539 HGNC:19088 ASL gene ASL London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815 27604308;12384776;17326097;29326055 False 3 0;0;0 21.433 False ENSG00000126522 ENSG00000126522 HGNC:746 ASL gene ASL Expert Review Green;NHS GMS;ClinGen;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815;seizure, HP:0001250 12384776;17326097;29326055;38044746;28251416;36994644;21744316 False 3 100;0;0 21.433 False ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency OMIM:615574 24139043;25227173;27469131;28776279;29279279;29375865 False 3 100;0;0 21.433 False ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Canavan disease 271900 False 3 67;33;0 21.433 False ENSG00000108381 ENSG00000108381 HGNC:756 ASPA gene ASPA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Canavan disease 27604308 False 3 0;0;0 21.433 False ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias);Citrullinemia 27604308 False 3 0;0;0 21.433 False ENSG00000130707 ENSG00000130707 HGNC:758 ASXL3 gene ASXL3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bainbridge-Ropers syndrome, OMIM:615115 35172777;27901041;34436830;33151654 False 3 100;0;0 21.433 False ENSG00000141431 ENSG00000141431 HGNC:29357 ATAD3A gene ATAD3A Expert Review Green;Literature;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810;Lactic acidosis;Methylglutaconic aciduria 27640307 False 3 67;33;0 21.433 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATAD3A gene ATAD3A Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Harel-Yoon syndrome, MONDO:0014958;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810;pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931 27640307;28549128;31727539;32004445;33575671;37095554 False 3 100;0;0 21.433 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATIC gene ATIC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;AICAR transformylase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000138363 ENSG00000138363 HGNC:794 ATN1 gene ATN1 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 30827498 False 3 75;25;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 ENSG00000111676 ENSG00000111676 HGNC:3033 ATP13A2 gene ATP13A2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome False 3 0;0;0 21.433 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A1 gene ATP1A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia;Seizures;Intellectual disability 30388404 False 3 67;33;0 21.433 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alternating hemiplegia of childhood 1, 104290;Migraine, familial basilar, 602481;Migraine, familial hemiplegic, 2, 602481;benign familial infantile convulsions;epilepsy and migraine;occipitotemporal epilepsy;infantile epileptic syndrome 15159495;29610157;28058944;18028407;12953268 False 3 25;25;50 21.433 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2;Catastrophic epilepsy, unusual apnea spells, and postnatal microcephaly;Dystonia-12;CAPOS Syndrome (recurrent mutation) Heinzen et al (2012) Nature Genet 44(9): 1030-1035;de Carvalho Aguiar et al (2004) Neuron 43: 169-175;Demos et al (2014) Orphanet Journal of Rare Diseases 2014, 9:15 False 3 83;17;0 21.433 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP5A1 gene ATP5A1 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 23596069;23599390;34483339;34954817 False 3 100;0;0 21.433 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5D gene ATP5D Expert Review Green;Expert Review Green;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 3 0;0;0 21.433 False ENSG00000099624 ENSG00000099624 HGNC:837 ATP5E gene ATP5E Expert Review Green;London North 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 3, OMIM:614053;mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 20566710;27626380;25954304;27604308 False 3 100;0;0 21.433 False ENSG00000124172 ENSG00000124172 HGNC:838 ATP5G3 gene ATP5G3 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 34636445;34954817 False 3 67;33;0 21.433 False ENSG00000154518 ENSG00000154518 HGNC:843 ATP5O gene ATP5O Expert Review Green;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 7, OMIM:620359 34954817;35621276 False 3 50;50;0 21.433 False ENSG00000241837 ENSG00000241837 HGNC:850 ATP5O gene ATP5O Expert Review Green;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 7, OMIM:620359 34954817;35621276 False 3 50;50;0 21.433 False ENSG00000241837 ENSG00000241837 HGNC:850 ATP6AP1 gene ATP6AP1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47 27231034 False 3 0;0;0 21.433 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A1 gene ATP6V0A1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ATP6V0A1-related developmental disorder (monoallelic) 30842224;33057194;34909687;33833240 False 3 75;25;0 21.433 False ENSG00000033627 ENSG00000033627 HGNC:865 ATP6V0A2 gene ATP6V0A2 Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA 219200;Wrinkly skin syndrome 278250 18157129;22773132 False 3 67;33;0 21.433 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0A2 gene ATP6V0A2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies);Cutis laxa, autosomal recessive, type IIA 21920;Wrinkly skin syndrome 278250 27604308 False 3 0;0;0 21.433 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0C gene ATP6V0C Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 24623842;33090716;33190975;35600075;36074901;37161035 False 3 75;25;0 21.433 False ENSG00000185883 ENSG00000185883 HGNC:855 ATP6V1A gene ATP6V1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, infantile or early childhood, 3 618012;Cutis laxa, autosomal recessive, type IID 617403 29668857;28065471 False 3 67;33;0 21.433 False ENSG00000114573 ENSG00000114573 HGNC:851 ATP7A gene ATP7A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 Menkes disease 309400 7842019;10739752;14635105 False 3 67;33;0 21.433 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7A gene ATP7A London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease False 3 0;0;0 21.433 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Wilson disease 27604308 False 3 0;0;0 21.433 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1 211600;Cholestasis, benign recurrent intrahepatic 243300 AR;Cholestasis, intrahepatic, of pregnancy, 1 147480 AD;Byler disease (Disorders of bile acid metabolism and transport) 27604308 False 3 100;0;0 21.433 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATPAF2 gene ATPAF2 London North GLH;NHS GMS;Expert Review Green 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;Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Diseases;Isolated complex V deficiency;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 14757859;19933271 False 3 50;50;0 21.433 False ENSG00000171953 ENSG00000171953 HGNC:18802 ATRX gene ATRX Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert 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) Alpha-thalassemia/mental retardation syndrome, 301040;Mental retardation-hypotonic facies syndrome, X-linked, 309580 25606380;11449489;7697714;11050622;16722615 False 3 86;14;0 21.433 True ENSG00000085224 ENSG00000085224 HGNC:886 AUH gene AUH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I;Methylglutaconic aciduria type I (Organic acidurias) 27604308 False 3 0;0;0 21.433 False ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green 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, 11 23453667 False 3 0;0;0 21.433 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, progeroid type, 2 23664117;23664118 False 3 0;0;0 21.433 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600;B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 21.433 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome 261540;O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 23889335;16909395 False 3 0;0;0 21.433 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, OMIM:609195;Hereditary spastic paraplegia 26, MONDO:0012213 23746551;24103911 False 3 100;0;0 21.433 False ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IId, OMIM:607091 11901181;21920538 False 3 0;0;0 21.433 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies 130070;B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 21.433 False ENSG00000027847 ENSG00000027847 HGNC:930 BAAT gene BAAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial 27604308;23415802 False 3 100;0;0 21.433 False ENSG00000136881 ENSG00000136881 HGNC:932 BAG3 gene BAG3 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1HH, 613881;Myopathy, myofibrillar, 6, 612954 30442290;28737513;28211974 False 3 100;0;0 21.433 False ENSG00000151929 ENSG00000151929 HGNC:939 BAG3 gene BAG3 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1HH False 3 100;0;0 21.433 False ENSG00000151929 ENSG00000151929 HGNC:939 BAP1 gene BAP1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kury-Isidor syndrome, OMIM:619762 35051358 False 3 100;0;0 21.433 False ENSG00000163930 ENSG00000163930 HGNC:950 BCAT2 gene BCAT2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308;14755340;25653144 False 3 50;0;50 21.433 False ENSG00000105552 ENSG00000105552 HGNC:977 BCKDHA gene BCKDHA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia 248600 2703538;8037208;9582350;31119508;31112740 False 3 67;33;0 21.433 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHA gene BCKDHA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia;BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 3 0;0;0 21.433 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib;BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 3 0;0;0 21.433 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDHB gene BCKDHB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib 248600 31119508;31112740 False 3 67;33;0 21.433 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency 27604308;22956686 False 3 100;0;0 21.433 False ENSG00000103507 ENSG00000103507 HGNC:16902 BCS1L gene BCS1L Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 1 124000;Leigh syndrome 256000;GRACILE syndrome 603358 17403714;12215968;19508421 False 3 67;33;0 21.433 False ENSG00000074582 ENSG00000074582 HGNC:1020 BCS1L gene BCS1L London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Diseases;Isolated complex III deficiency;Mitochondrial Respiratory Chain Complex III Deficiency;Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000;Bjornstad syndrome, 262000;GRACILE syndrome, 603358 27604308 False 3 100;0;0 21.433 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366);Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple mitochondrial dysfunctions syndrome 2, 614299;Multiple Mitochondrial Dysfunctions Syndrome;Disorders of iron homeostasis 27604308 False 3 100;0;0 21.433 False ENSG00000163170 ENSG00000163170 HGNC:24415 BOLA3 gene BOLA3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 614299 24334290;11156534 False 3 67;33;0 21.433 False ENSG00000163170 ENSG00000163170 HGNC:24415 BRAF gene BRAF Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 115150;Noonan syndrome 7 613706;LEOPARD syndrome 3 613707 18039946;19206169 False 3 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 ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Rigidity and multifocal seizure syndrome, lethal neonatal 614498 25319849;23035047;22279524 False 3 67;33;0 21.433 False ENSG00000106009 ENSG00000106009 HGNC:21701 BRSK1 gene BRSK1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder, MONDO:0700092 41035394 False 3 100;0;0 21.433 False ENSG00000160469 ENSG00000160469 HGNC:18994 BSCL2 gene BSCL2 Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924 24896178;26503795;23564749;15181077;30767895;23564749;31369919 False 3 67;33;0 21.433 False ENSG00000168000 ENSG00000168000 HGNC:15832 BTD gene BTD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency 253260 24075304;4073853;3196050;10801053 False 3 29;14;57 21.433 False ENSG00000169814 ENSG00000169814 HGNC:1122 BTD gene BTD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency (Disorders of biotin metabolism);Biotinidase deficiency;lactic acidosis with seizures and eczema,immune deficiency 27604308 False 3 0;0;100 21.433 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf57 gene C12orf57 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome 218340 23453666;24798461;23633300;23453665;29383837 False 3 67;33;0 21.433 False ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 21.433 False ENSG00000130921 ENSG00000130921 HGNC:26784 C12orf66 gene C12orf66 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 83, OMIM:621100 39824192 False 3 100;0;0 21.433 False ENSG00000174206 ENSG00000174206 HGNC:26517 C19orf12 gene C19orf12 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 27604308;21981780;29295770;31087512 False 3 25;0;75 21.433 False ENSG00000131943 ENSG00000131943 HGNC:25443 C19orf70 gene C19orf70 Expert Review Green;Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 37, 618329 27623147;29618761;27485409 False 3 0;0;0 21.433 False ENSG00000174917 ENSG00000174917 HGNC:33702 C1QBP gene C1QBP Expert Review Green;Expert Review;Literature;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33 617713 28942965 False 3 100;0;0 21.433 False ENSG00000108561 ENSG00000108561 HGNC:1243 C2orf69 gene C2orf69 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 34038740;33945503 False 3 100;0;0 21.433 False ENSG00000178074 ENSG00000178074 HGNC:26799 C2orf69 gene C2orf69 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 34038740;33945503 False 3 100;0;0 21.433 False ENSG00000178074 ENSG00000178074 HGNC:26799 CA5A gene CA5A Expert Review Green;NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency;Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 100;0;0 21.433 False ENSG00000174990 ENSG00000174990 HGNC:1377 CACNA1A gene CACNA1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 42, OMIM:617106;developmental and epileptic encephalopathy, 42, MONDO:0014917;Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 29056246;27476654;11564488;20071244;15452324;8898206;36063114;34267336;33445191;27250579 False 3 38;12;50 21.433 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1B gene CACNA1B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497;Global developmental delay;Developmental regression;Seizures;Intellectual disability;Abnormality of movement;Progressive Epilepsy-Dyskinesia 30982612;25296916 False 3 67;33;0 21.433 False ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1C gene CACNA1C NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy syndrome OMIM:601005;CACNA1C-related disorder 15454078;15863612;28371864 False 3 100;0;0 21.433 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Brugada syndrome (Version 1.7);UKGTN;Expert Review Green;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, NOT imprinted Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;Short QT;CACNA1C-related disorder 24291113;16301704;30027834;30279520;17224476;28427417;28490369;29759541;29697308 False 3 50;25;25 21.433 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder 18250309;15454078;25633834;24728418 False 3 86;14;0 21.433 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C Expert Review Green;South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder 24183960;doi:10. 1007/ s12265-016-9673-5;26253506 False 3 25;50;25 21.433 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder False 3 100;0;0 21.433 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Primary aldosteronism, seizures, and neurologic abnormalities 615474 AD;Sinoatrial node dysfunction and deafness 614896 AR 28472301;23913001;30698561;30054272 False 3 75;25;0 21.433 True Other ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Dystonia;Congenital contracture;Macrocephaly 29942082;30343943 False 3 75;25;0 21.433 False Other ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1G gene CACNA1G Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42 616795 17397049;25558065;28726809;29878067 False 3 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 ENSG00000006283 ENSG00000006283 HGNC:1394 CACNA1I gene CACNA1I NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with speech impairment and with or without seizures, OMIM:620114 33704440 False 3 100;0;0 21.433 False Other ENSG00000100346 ENSG00000100346 HGNC:1396 CACNA2D2 gene CACNA2D2 Expert Review Green;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 Absence epilepsy;Cerebellar atrophy with seizures and variable developmental delay, 618501 24358150;23339110;11487633;11756448 False 3 40;60;0 21.433 False ENSG00000007402 ENSG00000007402 HGNC:1400 CAD gene CAD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 50, OMIM:616457 25678555;28007989 False 3 67;33;0 21.433 False ENSG00000084774 ENSG00000084774 HGNC:1424 CALM1 gene CALM1 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916 27761157;19121813 False 3 83;17;0 21.433 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM1 gene CALM1 Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 False 3 33;67;0 21.433 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 South West GLH;London South GLH;Expert Review Green;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550 24917665;27100291;27114410;33200177 False 3 80;20;0 21.433 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM2 gene CALM2 Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550 24917665;27100291;27114410;33200177 False 3 40;40;20 21.433 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782;Long QT syndrome 16,618782 False 3 20;60;20 21.433 False ENSG00000160014 ENSG00000160014 HGNC:1449 CALM3 gene CALM3 Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782 27516456 False 3 20;60;20 21.433 False ENSG00000160014 ENSG00000160014 HGNC:1449 CAMK2D gene CAMK2D Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;dilated cardiomyopathy, MONDO:0005021 38272033 False 3 100;0;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 ENSG00000145349 ENSG00000145349 HGNC:1462 CAMSAP1 gene CAMSAP1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 12, OMIM:620316 36283405 False 3 100;0;0 21.433 False ENSG00000130559 ENSG00000130559 HGNC:19946 CAP2 gene CAP2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2I, OMIM:620462 30518548;33083013;34862840 False 3 100;0;0 21.433 False ENSG00000112186 ENSG00000112186 HGNC:20039 CAPRIN1 gene CAPRIN1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 23849776;35979925;36136249;35977029;28135719;31398340 False 3 100;0;0 21.433 False ENSG00000135387 ENSG00000135387 HGNC:6743 CARS2 gene CARS2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, 616672 25361775;25787132;30139652;32571458;32348839 False 3 100;0;0 21.433 False ENSG00000134905 ENSG00000134905 HGNC:25695 CARS2 gene CARS2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype;Combined oxidative phosphorylation deficiency 27 616672 25361775;25787132;30139652 False 3 100;0;0 21.433 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert 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 and microcephaly with pontine and cerebellar hypoplasia 300749;Mental retardation, with or without nystagmus 300422 21954287;29426960;28783747 False 3 29;14;57 21.433 False ENSG00000147044 ENSG00000147044 HGNC:1497 CASQ2 gene CASQ2 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938 27761157;19121813;16908766 False 3 86;14;0 21.433 False ENSG00000118729 ENSG00000118729 HGNC:1513 CASZ1 gene CASZ1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dilated cardiomyopathy, MONDO:0005021;left ventricular noncompaction, MONDO:0018901 36293425;31268246;28099117;27693370;37509718 False 3 100;0;0 21.433 False ENSG00000130940 ENSG00000130940 HGNC:26002 CAT gene CAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acatalasaemia (Other peroxisomal disorders);Acatalasemia, 614097 27604308 False 3 0;0;0 21.433 False ENSG00000121691 ENSG00000121691 HGNC:1516 CBS gene CBS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types False 3 0;0;0 21.433 False ENSG00000160200 ENSG00000160200 HGNC:1550 CC2D2A gene CC2D2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal COACH syndrome 216360;Joubert syndrome 9 612285 22241855;19574260 False 3 67;33;0 21.433 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC115 gene CCDC115 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo 616828 26833332 False 3 0;0;0 21.433 False ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC88A gene CCDC88A Expert Review Green;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 PEHO syndrome-like, OMIM:617507 26917597;30392057;37798908;39334473 False 3 33;67;0 21.433 False ENSG00000115355 ENSG00000115355 HGNC:25523 CDH2 gene CDH2 Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 21.433 False ENSG00000170558 ENSG00000170558 HGNC:1759 CDH2 gene CDH2 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 50;50;0 21.433 False ENSG00000170558 ENSG00000170558 HGNC:1759 CDK19 gene CDK19 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile 87 618916 20563892;32330417 False 3 67;33;0 21.433 False ENSG00000155111 ENSG00000155111 HGNC:19338 CDK5 gene CDK5 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342;lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596 25560765;40186457;28854363;8855328 False 3 100;0;0 21.433 False ENSG00000164885 ENSG00000164885 HGNC:1774 CDKL5 gene CDKL5 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green 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) Angelman syndrome-like;Epileptic encephalopathy, early infantile, 2 Kishino et al (1995) Nature Genet 15: 70-73;Tao et al (2004) Am J Hum Genet 75: 1149-1154 False 3 83;17;0 21.433 False ENSG00000008086 ENSG00000008086 HGNC:11411 CELF2 gene CELF2 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 97, OMIM:619561 33131106;34107259 False 3 100;0;0 21.433 False ENSG00000048740 ENSG00000048740 HGNC:2550 CEP85L gene CEP85L Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 10, OMIM:618873;Lissencephaly 10, MONDO:0030031 32097630;32097629 False 3 100;0;0 21.433 False ENSG00000111860 ENSG00000111860 HGNC:21638 CERS1 gene CERS1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Epilepsy, progressive myoclonic, 8 OMIM:616230;progressive myoclonic epilepsy type 8 MONDO:0014545 19243074;30800706;21625621;24782409;33798445;27618929 False 3 67;33;0 21.433 False ENSG00000223802 ENSG00000223802 HGNC:14253 CHCHD10 gene CHCHD10 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;?Myopathy, isolated mitochondrial, autosomal dominant, 616209;Spinal muscular atrophy, Jokela type 31261376 False 3 100;0;0 21.433 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHD2 gene CHD2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, childhood-onset 615369 False 3 83;17;0 21.433 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD4 gene CHD4 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sifrim-Hitz-Weiss syndrome, OMIM:617159 27479907;27616479;34109749 False 3 100;0;0 21.433 False ENSG00000111642 ENSG00000111642 HGNC:1919 CHD5 gene CHD5 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM:610771;Intellectual disability, MONDO:0001071;Epilepsy, MONDO:0005027 33944996 False 3 100;0;0 21.433 False ENSG00000116254 ENSG00000116254 HGNC:16816 CHKA gene CHKA NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Abnormal muscle tone;Global developmental delay;Intellectual disability;Seizures;Microcephaly;Abnormality of movement;Abnormality of nervous system morphology;Short stature 35202461 False 3 100;0;0 21.433 False ENSG00000110721 ENSG00000110721 HGNC:1937 CHKB gene CHKB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Choline kinase deficiency (Disorders of complex lipid synthesis);Muscular dystrophy, congenital, megaconial type, 602541 27604308 False 3 50;0;50 21.433 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHRNA2 gene CHRNA2 Expert Review Green;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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, nocturnal frontal lobe, type 4, OMIM:610353;autosomal dominant nocturnal frontal lobe epilepsy 4, MONDO:0012474 16826524;25770198;25847220;30809122 False 3 67;11;22 21.433 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA4 gene CHRNA4 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;UKGTN;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 1 600513 7550350;14623738 False 3 71;14;14 21.433 False ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB2 gene CHRNB2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;UKGTN;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, nocturnal frontal lobe, 3 605375 11062464;11104662 False 3 62;12;25 21.433 False ENSG00000160716 ENSG00000160716 HGNC:1962 CHST14 gene CHST14 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776;CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 21.433 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations 143095;CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 20830804 False 3 0;0;0 21.433 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Macular corneal dystrophy 217800 27604308 False 3 0;0;0 21.433 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 24269551;21129727 False 3 0;0;0 21.433 False ENSG00000131873 ENSG00000131873 HGNC:17198 CIC gene CIC Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 45 617600 21076407;28288114;24896178 False 3 67;33;0 21.433 False ENSG00000079432 ENSG00000079432 HGNC:14214 CISD2 gene CISD2 Expert Review Green;NHS GMS;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2 604928 27604308;17846994;25056293;25371195;29237418 False 3 0;0;100 21.433 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN3 gene CLCN3 NHS GMS;Expert Review Green;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 Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512;Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 34186028 False 3 100;0;0 21.433 False Other ENSG00000109572 ENSG00000109572 HGNC:2021 CLCN4 gene CLCN4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Raynaud-Claes syndrome, OMIM:300114 27550844;23647072 False 3 67;33;0 21.433 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLDN16 gene CLDN16 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal, OMIM:248250 27604308 False 3 0;0;0 21.433 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement 248190 27604308;22422540;17033971 False 3 0;0;0 21.433 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLDN5 gene CLDN5 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy, MONDO:0005027 36477332 False 3 100;0;0 21.433 False ENSG00000184113 ENSG00000184113 HGNC:2047 CLN3 gene CLN3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, 204200 False 3 0;0;0 21.433 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN3 gene CLN3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3 204200 7553855;24827497;30053402 False 3 29;14;57 21.433 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 False 3 0;0;0 21.433 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 London North GLH;NHS GMS;Expert Review Green 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 False 3 0;0;0 21.433 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 600143;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 19431184;16570191;16570191 False 3 17;17;67 21.433 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLN8 gene CLN8 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 False 3 0;0;0 21.433 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLPB gene CLPB NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 25597510;25597511;25650066;25595726;26916670;28687938;34140661 False 3 100;0;0 21.433 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPB gene CLPB NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813 25597510;25597511;26916670;28687938;34140661 False 3 100;0;0 21.433 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 False 3 100;0;0 21.433 False ENSG00000125656 ENSG00000125656 HGNC:2084 CLTC gene CLTC Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 56, OMIM:617854 26822784;29100083 False 3 67;33;0 21.433 False ENSG00000141367 ENSG00000141367 HGNC:2092 CMPK2 gene CMPK2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018;basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875 33340416;36443312 False 3 100;0;0 21.433 False ENSG00000134326 ENSG00000134326 HGNC:27015 CNKSR2 gene CNKSR2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008;intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909 28098945;25223753;22511892;25644381;28098945;34266427;31414730 False 3 67;33;0 21.433 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNNM2 gene CNNM2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism);Hypomagnesemia 6, renal 613882;Hypomagnesemia, seizures, and mental retardation 616418 27604308 False 3 100;0;0 21.433 False ENSG00000148842 ENSG00000148842 HGNC:103 CNNM2 gene CNNM2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypomagnesemia, seizures, and mental retardation, OMIM:616418;Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 24699222 False 3 67;33;0 21.433 False ENSG00000148842 ENSG00000148842 HGNC:103 CNOT9 gene CNOT9 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epilepsy, MONDO:0005027 37092538 False 3 100;0;0 21.433 False ENSG00000144580 ENSG00000144580 HGNC:10445 CNPY3 gene CNPY3 Expert Review Green;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 Epileptic encephalopathy, early infantile, 60 617929 29394991 False 3 33;67;0 21.433 True ENSG00000137161 ENSG00000137161 HGNC:11968 CNTN2 gene CNTN2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400 23518707;34691156;36553572;37359369 False 3 60;40;0 21.433 False ENSG00000184144 ENSG00000184144 HGNC:2172 CNTNAP2 gene CNTNAP2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1 Zweier et al (2009) Am J Hum Genet 85: 655_666;Peippo et al (2005) Clin Dysmorphol 15: 47_54;16571880 False 3 83;17;0 21.433 False ENSG00000174469 ENSG00000174469 HGNC:13830 COA5 gene COA5 Expert Review Green;South West GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Mitochondrial complex IV deficiency, 220110;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);syndromic HCM;?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 27604308 False 3 50;50;0 21.433 False ENSG00000183513 ENSG00000183513 HGNC:33848 COA6 gene COA6 Expert Review Green;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 13, OMIM:616501 False 3 100;0;0 21.433 False ENSG00000168275 ENSG00000168275 HGNC:18025 COA6 gene COA6 MetBioNet;Expert Review Green;Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 25959673;25339201;24549041;22277967 False 3 100;0;0 21.433 False ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert Review Green;Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 27683825;29718187 False 3 0;0;0 21.433 False ENSG00000162377 ENSG00000162377 HGNC:25716 COG1 gene COG1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIg 611209 27604308 False 3 0;0;0 21.433 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIj 613489 19651599;21185756;19494034;11980916 False 3 0;0;0 21.433 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi 613612;Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 27604308 False 3 0;0;0 21.433 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Shaheen syndrome 615328;Congenital disorder of glycosylation, type IIl 614576 26260076;11980916 False 3 0;0;0 21.433 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe, 608779 15107842;17356545;19577670 False 3 67;33;0 21.433 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG7 gene COG7 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIe 608779 27604308 False 3 0;0;0 21.433 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh 611182;Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 17220172;17331980;11980916 False 3 0;0;0 21.433 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL18A1 gene COL18A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, OMIM:267750 19160445;28602933;28950998;10942434;30007336;19160445;18484314;12415512;19160445;28602933;28950998 False 3 67;33;0 21.433 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL4A1 gene COL4A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773;Brain small vessel disease with or without ocular anomalies 607595;Porencephaly 1 175780;Schizencephaly 269160 27916450;30315939 False 3 29;14;57 21.433 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porencephaly 2 614483 22209246;30315939 False 3 29;14;57 21.433 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3BP gene COL4A3BP Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 34, OMIM:616351 25533962;33347465;34688657;36976648;37892645 False 3 100;0;0 21.433 False ENSG00000113163 ENSG00000113163 HGNC:2205 COQ2 gene COQ2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 17855635;16400613;17332895 False 3 67;33;0 21.433 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ2 gene COQ2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 27604308 False 3 100;0;0 21.433 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7 616276 25658047;26185144 False 3 67;33;0 21.433 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ4 gene COQ4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 27604308 False 3 100;0;0 21.433 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650;Steroid-resistant nephrotic syndrome;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 21.433 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "?Coenzyme Q10 deficiency, primary, 8 616733" 26084283;28409910 False 3 50;50;0 21.433 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 4, 612016 27604308 False 3 100;0;0 21.433 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 24270420 False 3 100;0;0 21.433 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654;Coenzyme Q10 deficiency;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 50;50;0 21.433 False ENSG00000088682 ENSG00000088682 HGNC:25302 COQ9 gene COQ9 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654 19375058;26081641 False 3 67;33;0 21.433 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green 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 3 100;0;0 21.433 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX10 gene COX10 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;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 3 67;0;33 21.433 False ENSG00000166260 ENSG00000166260 HGNC:2261 COX14 gene COX14 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 21.433 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX15 gene COX15 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 3 100;0;0 21.433 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX15 gene COX15 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 27604308 False 3 100;0;0 21.433 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX18 gene COX18 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970;Charcot-Marie-Tooth disease, MONDO:0015626 37468577;40830826 False 3 33;33;33 21.433 False ENSG00000163626 ENSG00000163626 HGNC:26801 COX20 gene COX20 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only;OXPHOS assembly factors 27604308 False 3 100;0;0 21.433 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX4I1 gene COX4I1 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 28766551;31290619;33578848 False 3 50;50;0 21.433 False ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 28247525;35246835 False 3 50;50;0 21.433 False ENSG00000178741 ENSG00000178741 HGNC:2267 COX6A1 gene COX6A1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 3 100;0;0 21.433 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6A2 gene COX6A2 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 23460811;31155743;32744742 False 3 67;33;0 21.433 False ENSG00000156885 ENSG00000156885 HGNC:2279 COX6B1 gene COX6B1 London North GLH;NHS GMS;Expert Review Green 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 3 100;0;0 21.433 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B London North GLH;NHS GMS;Expert Review Green 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) Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Linear skin defects with multiple congenital anomalies;Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887;MICROPHTHALMIA WITH LINEAR SKIN LESIONS 27604308 False 3 100;0;0 21.433 False ENSG00000131174 ENSG00000131174 HGNC:2291 CP gene CP London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, 604290;Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 3 0;0;0 21.433 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPLX1 gene CPLX1 Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 63, OMIM:617976;developmental and epileptic encephalopathy, 63, MONDO:0033372 26539891;28422131 False 3 100;0;0 21.433 False ENSG00000168993 ENSG00000168993 HGNC:2309 CPOX gene CPOX London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892 6886003;7757079;8012360;9454777;10505225;11074238;11309681;16159891;21103937;23236641;23605133;30828546;33008663;37540847;38940544;40296768 False 3 100;0;0 21.433 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPS1 gene CPS1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency;Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) 27604308;24816252 False 3 0;0;0 21.433 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle);CPT deficiency, hepatic, type IA 27604308 False 3 0;0;100 21.433 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110;Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) 23911907;10873395;11994355;15622536;21913903;23184072;24843804 False 3 50;0;50 21.433 False ENSG00000157184 ENSG00000157184 HGNC:2330 CPT2 gene CPT2 NHS GMS;South West GLH;MetBioNet;Expert Review Green;MetBioNet;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110 24816252;27604308 False 3 100;0;0 21.433 False ENSG00000157184 ENSG00000157184 HGNC:2330 CREB3L3 gene CREB3L3 Expert Review Green;NHS GMS;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertriglyceridemia 2, OMIM:619324;Hypertriglyceridemia (disease) MONDO:0005347 29954705;21666694;26427795;22135386 False 3 100;0;0 21.433 False ENSG00000060566 ENSG00000060566 HGNC:18855 CREBBP gene CREBBP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1 180849 20684013;18792986 False 3 50;25;25 21.433 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRELD1 gene CRELD1 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771;Jeffries-Lakhani neurodevelopmental syndrome, MONDO:0958329 32437232;37947183 False 3 100;0;0 21.433 False Other ENSG00000163703 ENSG00000163703 HGNC:14630 CRLS1 gene CRLS1 Expert Review Green;NHS GMS;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 3 100;0;0 21.433 False ENSG00000088766 ENSG00000088766 HGNC:16148 CRNKL1 gene CRNKL1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436;complex neurodevelopmental disorder, MONDO:0100038 40857589 False 3 100;0;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 ENSG00000101343 ENSG00000101343 HGNC:15762 CSGALNACT1 gene CSGALNACT1 Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation;Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870;skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 31705726;31325655;31705726 False 3 100;0;0 21.433 False ENSG00000147408 ENSG00000147408 HGNC:24290 CSNK2B gene CSNK2B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poirier-Bienvenu neurodevelopmental syndrome, OMIM:618732;Poirier-Bienvenu neurodevelopmental syndrome, MONDO:0032889 28762608;28585349;27094248;30655572 False 3 67;33;0 21.433 False ENSG00000204435 ENSG00000204435 HGNC:2460 CSRP3 gene CSRP3 Expert Review Green;NHS GMS;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 12;Cardiomyopathy, dilated, 1M False 3 0;50;50 21.433 False ENSG00000129170 ENSG00000129170 HGNC:2472 CSRP3 gene CSRP3 Expert Review Green;South West GLH;London South GLH;North West GLH;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 Cardiomyopathy, hypertrophic, 12 (612124);?Cardiomyopathy, dilated, 1M (607482);Cardiomyopathy, familial hypertrophic, 12 27532257;28369730;30681346 False 3 71;14;14 21.433 True ENSG00000129170 ENSG00000129170 HGNC:2472 CSTB gene CSTB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 28378817;21757863;15329070;9012407;8596935;17003839 False 3 38;12;50 21.433 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTH gene CTH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cystathioninuria, 219500 False 3 0;0;0 21.433 False ENSG00000116761 ENSG00000116761 HGNC:2501 CTNNA2 gene CTNNA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174 30013181 False 3 67;33;0 21.433 False ENSG00000066032 ENSG00000066032 HGNC:2510 CTNS gene CTNS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219750 False 3 0;0;0 21.433 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Galactosialidosis 27604308 False 3 0;0;0 21.433 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome 245010;Papillon-Lefevre syndrome 245000;Periodontitis 1, juvenile 170650 27604308 False 3 0;0;0 21.433 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 26059544;29284168;10995834;16670177 False 3 29;14;57 21.433 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSD gene CTSD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 False 3 0;0;0 21.433 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362;neuronal ceroid lipofuscinosis 13 MONDO:0014147 23297359;25274848 False 3 100;0;0 21.433 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSF gene CTSF Expert Review Green;NHS GMS;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362;neuronal ceroid lipofuscinosis 13, MONDO:0014147 16508006;39720560 False 3 50;50;0 21.433 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis 27604308 False 3 0;0;0 21.433 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism);Megaloblastic anemia-1, Finnish type;Proteinuric renal disease;Unexplained kidney failure in young people False 3 0;0;0 21.433 False ENSG00000107611 ENSG00000107611 HGNC:2548 CUL3 gene CUL3 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without autism or seizures, OMIM:619239 32341456;25969726;31696658;33097317;30311385 False 3 67;33;0 21.433 False ENSG00000036257 ENSG00000036257 HGNC:2553 CUL4B gene CUL4B Expert Review Green;Wessex and West Midlands GLH;Literature;NHS GMS 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 15 (Cabezas type), 300354;seizures 25385192;17236139;20014135;20002452;17273978;22182342 False 3 50;50;0 21.433 True ENSG00000158290 ENSG00000158290 HGNC:2555 CUX1 gene CUX1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay with or without impaired intellectual development, OMIM:618330;global developmental delay with or without impaired intellectual development, MONDO:0032680 37644171 False 3 100;0;0 21.433 False ENSG00000257923 ENSG00000257923 HGNC:2557 CUX2 gene CUX2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 67, OMIM:618141;Infantile onset myoclonic epileptic encephalopathy 29630738;29795476;23020937;23934111 False 3 75;25;0 21.433 False ENSG00000111249 ENSG00000111249 HGNC:19347 CYC1 gene CYC1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 6, 615453 False 3 100;0;0 21.433 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, OMIM:612004 18345000;24326104;30051457 False 3 75;25;0 21.433 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYFIP2 gene CYFIP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 65, 618008 29534297;29667327;30664714 False 3 67;33;0 21.433 False Other ENSG00000055163 ENSG00000055163 HGNC:13760 CYP27A1 gene CYP27A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 27604308 False 3 0;0;0 21.433 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3 613812;Spastic paraplegia 5A, autosomal recessive 270800 27604308;9802883;18252231;19187859;31337596 False 3 0;0;0 21.433 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, 600721;generalized tonic-clonic seizures;absence seizures;tonic seizures;tonic-clonic seizures;myoclonic seizures False 3 67;33;0 21.433 False ENSG00000180902 ENSG00000180902 HGNC:28358 D2HGDH gene D2HGDH NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria 27604308 False 3 0;0;100 21.433 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity False 3 25;25;50 21.433 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBH gene DBH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency False 3 100;0;0 21.433 False ENSG00000123454 ENSG00000123454 HGNC:2689 DBT gene DBT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria);Maple syrup urine disease, type II 27604308 False 3 0;0;0 21.433 False ENSG00000137992 ENSG00000137992 HGNC:2698 DBT gene DBT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II, 248600;seizures;convulsions 31112740;31119508 False 3 67;33;0 21.433 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCX gene DCX Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Lissencephaly, X-linked, OMIM:300067;Subcortical laminal heterotopia, X-linked, OMIM:300067 False 3 67;33;0 21.433 False ENSG00000077279 ENSG00000077279 HGNC:2714 DCXR gene DCXR Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal [Pentosuria] 260800 27604308;22042873;23988570 False 3 0;0;0 21.433 False ENSG00000169738 ENSG00000169738 HGNC:18985 DDC gene DDC Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 28100251;30952622;20505134;19172410 False 3 100;0;0 21.433 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDC gene DDC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 27604308;24816252;28100251;30952622 False 3 100;0;0 21.433 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDOST gene DDOST Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, OMIM:614507 22305527;34462534 False 3 100;0;0 21.433 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDX3X gene DDX3X Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958 False 3 67;33;0 21.433 False ENSG00000215301 ENSG00000215301 HGNC:2745 DEAF1 gene DEAF1 Expert Review Green;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 ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 26048982;28940898;26834045;30109124;30923367 False 3 60;20;20 21.433 True ENSG00000177030 ENSG00000177030 HGNC:14677 DEGS1 gene DEGS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 18, 618404;seizures 30620337;30620338;31186544 False 3 67;33;0 21.433 False ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5A gene DENND5A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, 617281 27431290, 27866705 False 3 67;33;0 21.433 False ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epilepsy, familial focal, with variable foci 1, OMIM:604364 14510823;15329069;10825362;10577924;9851433;23542701;32848577;36067010 False 3 44;11;44 21.433 False ENSG00000100150 ENSG00000100150 HGNC:18423 DES gene DES Expert Review Green;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 Scapuloperoneal syndrome, neurogenic, Kaeser type (181400);Myopathy, myofibrillar, 1 (601419);Cardiomyopathy, dilated, 1I, (604765);Cardiomyopathy, dilated, 1I, 20186049;27532257 False 3 57;14;29 21.433 False ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES South West GLH;London South GLH;Expert Review Green;UKGTN;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1I (604765);Myopathy, myofibrillar, 1 (601419);Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) 29567486;23168288;30370089;20829228;25921558;29212896 False 3 43;43;14 21.433 False ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES Expert Review Green;South West GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Desminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465 16376610;16890305 False 3 60;40;0 21.433 False ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1I, False 3 100;0;0 21.433 False ENSG00000175084 ENSG00000175084 HGNC:2770 DGUOK gene DGUOK London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Deoxyguanosine kinase deficiency (Disorders of purine metabolism);Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Desmosterolosis 602398 27604308;11519011;21559050;21671375 False 3 0;0;0 21.433 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;IUGR and IGF abnormalities;Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis);Disorders of sex development;Cataracts 27604308 False 3 100;0;0 21.433 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay and seizures with or without movement abnormalities, OMIM:617836 29100083;32654954;33798445;34182312;34382076;34504728 False 3 67;33;0 21.433 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport);Megaloblastic anemia due to dihydrofolate reductase deficiency 27604308 False 3 0;0;0 21.433 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Miller syndrome 263750 27604308;19915526;27626380 False 3 0;0;0 21.433 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHPS gene DHPS Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Abnormality of head or neck;Seizures;EEG abnormality;Behavioral abnormality;Abnormal muscle tone;Intellectual disability;Global developmental delay 21389784;30661771;21850436 False 3 67;33;0 21.433 False ENSG00000095059 ENSG00000095059 HGNC:2869 DHRSX gene DHRSX Expert Review Green;NHS GMS 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 3 50;0;50 21.433 False ENSG00000169084 ENSG00000169084 HGNC:18399 DHTKD1 gene DHTKD1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism);2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism);2-aminoadipic and 2-oxoadipic aciduria, 204750 27604308 False 3 25;25;50 21.433 False ENSG00000181192 ENSG00000181192 HGNC:23537 DHX30 gene DHX30 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with severe motor impairment and absent language 617804 29100085;28327206 False 3 67;33;0 21.433 False ENSG00000132153 ENSG00000132153 HGNC:16716 DIAPH1 gene DIAPH1 Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM:616632 24781755; 26463574 False 3 50;50;0 21.433 False ENSG00000131504 ENSG00000131504 HGNC:2876 DLAT gene DLAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism);Pyruvate dehydrogenase E2 deficiency, 245348 27604308 False 3 100;0;0 21.433 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900;Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism);Leigh syndrome 27604308 False 3 100;0;0 21.433 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLL1 gene DLL1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709 31353024 False 3 67;33;0 21.433 False ENSG00000198719 ENSG00000198719 HGNC:2908 DMD gene DMD NHS GMS;South West GLH;Expert Review Green 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) Duchenne muscular dystrophy, 310200;Dilated Cardiomyopathy, X-Linked;Cardiomyopathy, dilated, 3B;Becker muscular dystrophy, 300376 False 3 100;0;0 21.433 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMD gene DMD Expert Review Green;Literature;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) Becker muscular dystrophy, 300376;Cardiomyopathy, dilated, 3B, 302045;Duchenne muscular dystrophy, 310200 GeneReviews: Dystrophinopathies False 3 100;0;0 21.433 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMXL2 gene DMXL2 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 81, MIM 618663;Ohtahara syndrome 25248098;30237576;31688942;30732576 False 3 100;0;0 21.433 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNA2 gene DNA2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6;615156;Disorders of mitochondrial DNA maintenance and integrity False 3 100;0;0 21.433 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC12 gene DNAJC12 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 28132689 False 3 0;0;0 21.433 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal dilated cardiomyopathy with ataxia syndrome;3-methylglutaconic aciduria, type V, 610198;Disorders of the mitochondrial import system;3-methylglutaconic aciduria, type V 27426421;27604308;16055927;27928778;22797137 False 3 100;0;0 21.433 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC19 gene DNAJC19 London North GLH;NHS GMS;Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198;Disorders of the mitochondrial import system;3-methylglutaconic aciduria, type V 27604308;27426421;16055927;27928778 False 3 100;0;0 21.433 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 27604308;21820099 False 3 0;0;0 21.433 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNAJC6 gene DNAJC6 Expert Review Green;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 Parkinson disease 19b, early-onset, OMIM:615528;Parkinson disease 19a juvenile-onset, OMIM:615528;juvenile onset Parkinson disease 19A, MONDO:0014231 22563501;23211418;26528954;34175496;26703368;33181391;32472658 False 3 50;50;0 21.433 False ENSG00000116675 ENSG00000116675 HGNC:15469 DNM1 gene DNM1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 31, OMIM:616346 25262651;27066543;33372033;34172529;36413998 False 3 71;29;0 21.433 False ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388;refractory epilepsy;refractory focal status epilepticus 26604000;27145208 False 3 67;33;0 21.433 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM1L gene DNM1L London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388;Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Centronuclear myopathy 1 160150;Charcot-Marie-Tooth disease, axonal type 2M 606482;Charcot-Marie-Tooth disease, dominant intermediate B 606482" 18560793;17932957;17636067;17008356;16227997;15731758 False 3 100;0;0 21.433 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOCK7 gene DOCK7 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23;EIEE23 Perrault et al (2014) AJHG 94(6). 891-897 False 3 83;17;0 21.433 False ENSG00000116641 ENSG00000116641 HGNC:19190 DOLK gene DOLK Expert Review Green;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 Im, OMIM:610768;DK1-congenital disorder of glycosylation, MONDO:0012556 23890587;17273964;24144945;28816422;32250540 False 3 50;50;0 21.433 False ENSG00000175283 ENSG00000175283 HGNC:23406 DOLK gene DOLK NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im;Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type Im 610768;syndromic DCM 23890587;17273964;22242004 False 3 100;0;0 21.433 False ENSG00000175283 ENSG00000175283 HGNC:23406 DOLK gene DOLK London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im 610768;Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 24144945;22242004 False 3 0;0;0 21.433 False ENSG00000175283 ENSG00000175283 HGNC:23406 DOLK gene DOLK Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal False 3 50;50;0 21.433 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates 614750;UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ij 608093 27604308 False 3 0;0;0 21.433 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPAGT1 gene DPAGT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, 608093 False 3 67;33;0 21.433 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPH5 gene DPH5 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 35482014 False 3 67;33;0 21.433 False ENSG00000117543 ENSG00000117543 HGNC:24270 DPM1 gene DPM1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799 23856421;10642597;10642602 False 3 67;33;0 21.433 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM1 gene DPM1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799;GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308 False 3 0;0;0 21.433 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;33129689 False 3 0;0;0 21.433 True ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 19576565;28803818 False 3 0;0;0 21.433 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYD gene DPYD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency 274270;Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYD gene DPYD Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 5-fluorouracil toxicity 274270;Dihydropyrimidine dehydrogenase deficiency 274270 False 3 67;33;0 21.433 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria, OMIM:222748;Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) 27604308;32600357 False 3 0;0;0 21.433 False ENSG00000147647 ENSG00000147647 HGNC:3013 DROSHA gene DROSHA NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Cerebral white matter atrophy;Abnormality of the corpus callosum;Abnormality of movement;Stereotypic behavior;Abnormality of head or neck;Short foot 35405010 False 3 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 ENSG00000113360 ENSG00000113360 HGNC:17904 DSC2 gene DSC2 Expert List;Expert Review Green;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 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476);Arrhythmogenic right ventricular dysplasia 11;Arrhythmogenic right ventricular dysplasia 11 (610476) 23500315;27532257 False 3 86;14;0 21.433 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSC2 gene DSC2 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair;Arrhythmogenic right ventricular dysplasia 11 False 3 100;0;0 21.433 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSC2 gene DSC2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11;Arrhythmogenic right ventricular dysplasia 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair ;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) 27532257;23500315;29567486 False 3 86;14;0 21.433 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1BB,;Arrhythmogenic right ventricular dysplasia 10 False 3 100;0;0 21.433 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSG2 gene DSG2 Expert List;Expert Review Green;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 Arrhythmogenic right ventricular dysplasia 10;Arrhythmogenic right ventricular dysplasia 10 (610193);Cardiomyopathy, dilated, 1BB (612877) 23500315;27532257 False 3 86;14;0 21.433 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSG2 gene DSG2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1BB (612877);Arrhythmogenic right ventricular dysplasia 10 ;Arrhythmogenic right ventricular dysplasia 10 (610193) 27532257;23500315;29567486 False 3 86;14;0 21.433 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD);Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) 27532257;23500315;35348702 False 3 86;14;0 21.433 False ENSG00000096696 ENSG00000096696 HGNC:3052 DSP gene DSP Expert List;Expert Review Green;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, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD);Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) 23500315;27532257;35348702 False 3 86;14;0 21.433 False ENSG00000096696 ENSG00000096696 HGNC:3052 DSP gene DSP NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD);Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) False 3 100;0;0 21.433 False ENSG00000096696 ENSG00000096696 HGNC:3052 DST gene DST Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 40497796;35942699 False 3 100;0;0 21.433 False ENSG00000151914 ENSG00000151914 HGNC:1090 DTYMK gene DTYMK NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Microcephaly;Seizures;Global brain atrophy;Cardiorespiratory arrest 31271740;34918187;35346037 False 3 100;0;0 21.433 False ENSG00000168393 ENSG00000168393 HGNC:3061 DYM gene DYM Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388;Dyggve-Melchior-Clausen disease, 223800;Smith-McCort dysplasia, 607326 False 3 0;100;0 21.433 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC1H1 gene DYNC1H1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 13, 614563;malformations of cortical development (MCD);Lennox Gastaut;Early-onset epilepsy;Late-onset epilepsy;Focal seizures 23603762 False 3 67;33;0 21.433 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYRK1A gene DYRK1A Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 PMID: 25707398;21294719;23160955;23099646 False 3 83;17;0 21.433 False ENSG00000157540 ENSG00000157540 HGNC:3091 EARS2 gene EARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 21.433 False ENSG00000103356 ENSG00000103356 HGNC:29419 EARS2 gene EARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924;Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL);Drug-refractory seizures;Epilepsy 27571996;27290639;27206875;27117034;26893310;26780086;26619324;23008233;22492562 False 3 67;33;0 21.433 False ENSG00000103356 ENSG00000103356 HGNC:29419 EBP gene EBP London North GLH;NHS GMS;Expert Review Green 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) MEND syndrome 300960 XLR;Chondrodysplasia punctata, X-linked dominant 302960 XLD;X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) 27604308 False 3 0;0;0 21.433 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECHS1 gene ECHS1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 False 3 100;0;0 21.433 False ENSG00000127884 ENSG00000127884 HGNC:3151 EDEM3 gene EDEM3 NHS GMS;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, OMIM:619493 34143952 False 3 100;0;0 21.433 False ENSG00000116406 ENSG00000116406 HGNC:16787 EEF1A2 gene EEF1A2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 33 616409 23033978;23647072;28911200;28378778;27652284;30109124 False 3 17;17;67 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101210 ENSG00000101210 HGNC:3192 EEFSEC gene EEFSEC Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102 39753114 False 3 100;0;0 21.433 False ENSG00000132394 ENSG00000132394 HGNC:24614 EFTUD2 gene EFTUD2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mandibulofacial dysostosis, Guion-Almeida type 610536 22305528;19334086 False 3 33;67;0 21.433 False ENSG00000108883 ENSG00000108883 HGNC:30858 EHBP1L1 gene EHBP1L1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis MONDO:0009369 34645488;26833786;https://dmdd.org.uk/mutants/Ehbp1l1 False 3 100;0;0 21.433 False ENSG00000173442 ENSG00000173442 HGNC:30682 EHMT1 gene EHMT1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kleefstra syndrome PMID: 16826528 False 3 83;17;0 21.433 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2B1 gene EIF2B1 Expert Review Green;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 Leukoencephalopathy with vanishing white matter, 603896 25843247;25761052 False 3 67;33;0 21.433 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;22678813 False 3 67;33;0 21.433 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;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 Leukoencephalopathy with vanishing white matter, 603896 19158808 False 3 67;33;0 21.433 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 25843247;26043506;29331873;30073106 False 3 67;33;0 21.433 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 603896;Ovarioleukodystrophy 603896 17646634;21484434;15136690;29995139;18266750;25843247;12707859;25457085;18266750;19158808 False 3 67;33;0 21.433 False ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 MEHMO syndrome, 300148 28055140, 27333055, 23063529;9781023 False 3 67;33;0 21.433 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3F gene EIF3F Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 67, OMIM:618295 30409806 False 3 67;33;0 21.433 False ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A2 gene EIF4A2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder 36528028 False 3 100;0;0 21.433 False ENSG00000156976 ENSG00000156976 HGNC:3284 ELAC2 gene ELAC2 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, OMIM:615440 23849775 False 3 100;0;0 21.433 False ENSG00000006744 ENSG00000006744 HGNC:14198 ELAC2 gene ELAC2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 17, 615440 False 3 100;0;0 21.433 False ENSG00000006744 ENSG00000006744 HGNC:14198 ELFN1 gene ELFN1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 40576023;34509675;34452636 False 3 100;0;0 21.433 False ENSG00000225968 ENSG00000225968 HGNC:33154 EMC10 gene EMC10 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies and variable seizures, OMIM:619264 32869858;33531666 False 3 100;0;0 21.433 False ENSG00000161671 ENSG00000161671 HGNC:27609 EMD gene EMD Expert Review Green;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Heart conduction disease, MONDO:0000992 29349559 False 3 50;50;0 21.433 False ENSG00000102119 ENSG00000102119 HGNC:3331 EMD gene EMD Expert Review Green;NHS GMS;South West GLH 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) Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 False 3 50;0;50 21.433 False ENSG00000102119 ENSG00000102119 HGNC:3331 EMD gene EMD Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females False 3 50;50;0 21.433 False ENSG00000102119 ENSG00000102119 HGNC:3331 EML1 gene EML1 Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Band heterotopia, OMIM:600348 24859200; 28556411 False 3 50;50;0 21.433 False ENSG00000066629 ENSG00000066629 HGNC:3330 ENO3 gene ENO3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XIII 27604308;25267339;11506403;25929793 False 3 100;0;0 21.433 False ENSG00000108515 ENSG00000108515 HGNC:3354 ENTPD1 gene ENTPD1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 35471564;28742222 False 3 67;33;0 21.433 False ENSG00000138185 ENSG00000138185 HGNC:3363 EOGT gene EOGT Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4 OMIM:615297;Adams-Oliver syndrome 4 MONDO:0014124 23522784;31368252;29924900 False 3 100;0;0 21.433 False ENSG00000163378 ENSG00000163378 HGNC:28526 EPB41L3 gene EPB41L3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental disorder with seizures and myelination defects 39292993 False 3 100;0;0 21.433 False ENSG00000082397 ENSG00000082397 HGNC:3380 EPG5 gene EPG5 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 23222957;25331754;26917586;26395118;23838600;23674064;28624465 False 3 50;50;0 21.433 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPG5 gene EPG5 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 28624465;23222957;26917586;23674064;25331754;23838600;26395118 False 3 0;0;0 21.433 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPG5 gene EPG5 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 23222957;23838600;26917586;25331754;23674064;26395118;28624465 False 3 100;0;0 21.433 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 14722920;10932264;16134145;11175283 False 3 17;17;67 21.433 False ENSG00000112425 ENSG00000112425 HGNC:3413 EPM2A gene EPM2A London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308 False 3 0;0;0 21.433 False ENSG00000112425 ENSG00000112425 HGNC:3413 ESAM gene ESAM Expert Review Green;NHS GMS;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371 36996813 False 3 100;0;0 21.433 False ENSG00000149564 ENSG00000149564 HGNC:17474 ETFA gene ETFA NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 25929793;27604308 False 3 100;0;0 21.433 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308 False 3 50;0;50 21.433 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));GLUTARIC ACIDURIA TYPE 2C;Glutaric acidemia IIC;Disorders of ubiquinone metabolism and biosynthesis;ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308;24816252 False 3 100;0;0 21.433 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Ethylmalonic encephalopathy 27604308 False 3 100;0;0 21.433 False ENSG00000105755 ENSG00000105755 HGNC:23287 ETHE1 gene ETHE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473 False 3 67;33;0 21.433 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXOSC3 gene EXOSC3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 25144110;25149867;23975261;23284067 False 3 67;33;0 21.433 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXT1 gene EXT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);Exostoses, multiple, type 1 133700 27604308 False 3 0;0;0 21.433 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682;seizures-scoliosis-macrocephaly syndrome, MONDO:0014731 26246518;30997052;30288735;30075207 False 3 100;0;0 21.433 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXT2 gene EXT2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);Exostoses, multiple, type 2 133701;?Seizures, scoliosis, and macrocephaly syndrome 616682 12417417 False 3 0;0;0 21.433 False ENSG00000151348 ENSG00000151348 HGNC:3513 FA2H gene FA2H Expert list;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, OMIM:612319;hereditary spastic paraplegia 35, MONDO:0012866 27604308 False 3 0;0;100 21.433 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAH gene FAH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I 27604308 False 3 0;0;0 21.433 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAR1 gene FAR1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154;fatty acyl-CoA reductase 1 deficiency, MONDO:0014510 25439727;30561787;33239752 False 3 50;50;0 21.433 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14, 614946 24161539;22833457;22499341;29126765 False 3 67;33;0 21.433 False ENSG00000145982 ENSG00000145982 HGNC:21062 FARS2 gene FARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 14, 614946 27604308 False 3 100;0;0 21.433 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green;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 44, OMIM:618855 18771761;28499982;31944455;35729327 False 3 25;75;0 21.433 False ENSG00000118246 ENSG00000118246 HGNC:29160 FASTKD2 gene FASTKD2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 27604308 False 3 100;0;0 21.433 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBP1 gene FBP1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) 27604308 False 3 0;0;0 21.433 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 28383868;23993193;23993194;25868664;26404457;27182039;27290639;27099744;27743463 False 3 75;25;0 21.433 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXL4 gene FBXL4 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 False 3 100;0;0 21.433 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXL4 gene FBXL4 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), OMIM:615471 23993193;23993194;25868664;26404457;28940506;38359748;39472908 False 3 100;0;0 21.433 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO11 gene FBXO11 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 618089 30057029;29796876 False 3 33;67;0 21.433 False ENSG00000138081 ENSG00000138081 HGNC:13590 FBXO28 gene FBXO28 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 100, OMIM:619777;developmental and epileptic encephalopathy 100, MONDO:0030695 30160831;33280099 False 3 100;0;0 21.433 False ENSG00000143756 ENSG00000143756 HGNC:29046 FDX2 gene FDX2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 24281368;28803783;30010796 False 3 50;50;0 21.433 False ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert Review Green;Literature;Expert Review;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, OMIM:617717;Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 28965846 False 3 100;0;0 21.433 False ENSG00000161513 ENSG00000161513 HGNC:3642 FECH gene FECH Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1, OMIM:177000;protoporphyria, erythropoietic, 1, MONDO:0008319 7857832;11753383;16385445;16911284;27604308;32873934;38940544;39969427 False 3 100;0;0 21.433 False ENSG00000066926 ENSG00000066926 HGNC:3647 FGF12 gene FGF12 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 47, 617166 27830185, 27872899, 27164707, 29699863 False 3 67;33;0 21.433 False ENSG00000114279 ENSG00000114279 HGNC:3668 FGF13 gene FGF13 Expert Review Green;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) Developmental and epileptic encephalopathy;Intellectual disability;Infantile-onset seizures 33245860 False 3 100;0;0 21.433 False ENSG00000129682 ENSG00000129682 HGNC:3670 FGFR2 gene FGFR2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Apert syndrome 101200;Beare-Stevenson cutis gyrata syndrome 123790;Bent bone dysplasia syndrome 614592;Craniofacial-skeletal-dermatologic dysplasia 101600;Craniosynostosis, nonspecific;Crouzon syndrome 123500;Gastric cancer, somatic 613659;Jackson-Weiss syndrome 123150;LADD syndrome 149730;Pfeiffer syndrome 101600;Saethre-Chotzen syndrome 101400;Scaphocephaly and Axenfeld-Rieger anomaly;Scaphocephaly, maxillary retrusion, and mental retardation 609579" 27604308 False 3 0;0;0 21.433 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypochondroplasia, OMIM:146000;hypochondroplasia, MONDO:0007793 12794698;16222682;17621485;2463028;23165795;27485793;30160829;28551036;23649205;23044018;18000976 False 3 67;33;0 21.433 True ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812;Disorders of the citric acid cycle 27604308 False 3 100;0;0 21.433 False ENSG00000091483 ENSG00000091483 HGNC:3700 FHL1 gene FHL1 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females http://www.ncbi.nlm.nih.gov/pubmed/22523091 False 3 100;0;0 21.433 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHL1 gene FHL1 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718);Myopathy, X-linked, with postural muscle atrophy (300696);?Uruguay faciocardiomusculoskeletal syndrome (300280);Scapuloperoneal myopathy, X-linked dominant (300695);Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717);Emery-Dreifuss muscular dystrophy 6, X-linked (300696) 27532257;28369730;30681346;20186852;22523091;29926425 False 3 83;17;0 21.433 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHOD3 gene FHOD3 Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy False 3 100;0;0 21.433 False ENSG00000134775 ENSG00000134775 HGNC:26178 FHOD3 gene FHOD3 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, MONDO:0005045 23255317;29907873;31742804;32335906;30442288 False 3 50;50;0 21.433 False ENSG00000134775 ENSG00000134775 HGNC:26178 FKRP gene FKRP Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 15833432;18060779;19705481;32914449 False 3 50;50;0 21.433 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKRP gene FKRP London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612;Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 27604308 False 3 0;0;0 21.433 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 21.433 False ENSG00000106692 ENSG00000106692 HGNC:3622 FKTN gene FKTN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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, 4, 253800;seizures;Walker-warburg syndrome or muscle-eye-brain disease;Fukuyama congenital muscular dystrophy 30220444;9690476;20961758 False 3 67;33;0 21.433 False ENSG00000106692 ENSG00000106692 HGNC:3622 FKTN gene FKTN NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated Cardiomyopathy, Recessive;Fukuyama Congenital Muscular Dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Cardiomyopathy, dilated, 1X;Fukuyama congenital muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 50;50;0 21.433 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Multiple acyl-CoA dehydrogenase deficiencies (MADDs) PubMed: 27259049 False 3 0;100;0 21.433 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLII gene FLII Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2J, OMIM:620635 32870709;37561591 False 3 100;0;0 21.433 False ENSG00000177731 ENSG00000177731 HGNC:3750 FLNA gene FLNA North West GLH;Expert Review Green;Wessex and West Midlands GLH;NHS GMS;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) Heterotopia, periventricular OMIM:300049 15668422;20014127;25755106;17357080 False 3 60;20;20 21.433 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNC gene FLNC Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 30067491;28008423 False 3 100;0;0 21.433 False ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC Expert Review Green;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883 27908349;26666891;31924696 False 3 100;0;0 21.433 True ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 False 3 100;0;0 21.433 False ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC Expert Review Green;South West GLH;Wessex and West Midlands GLH;Oxford Medical Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883 25351925;28356264;30411535;30681346 False 3 60;40;0 21.433 True ENSG00000128591 ENSG00000128591 HGNC:3756 FLVCR1 gene FLVCR1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060;neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126 39306721 False 3 100;0;0 21.433 False ENSG00000162769 ENSG00000162769 HGNC:24682 FMO3 gene FMO3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308 False 3 100;0;0 21.433 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOLR1 gene FOLR1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) 27604308 False 3 0;0;0 21.433 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOLR1 gene FOLR1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;seizures 19732866;20857335;25046240 False 3 67;33;0 21.433 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert;Expert Review Green;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454;Rett syndrome, congenital variant MONDO:0013270 21441262;19564653;19578037;27029630 False 3 83;17;0 21.433 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Green;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 I deficiency, nuclear type 19, OMIM:618241;mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624 20858599;20818383;27215383;31434271;30723688;33613441 False 3 60;40;0 21.433 False ENSG00000110074 ENSG00000110074 HGNC:26927 FOXRED1 gene FOXRED1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRMD5 gene FRMD5 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with eye movement abnormalities and ataxia, OMIM:620094 36206744 False 3 100;0;0 21.433 False ENSG00000171877 ENSG00000171877 HGNC:28214 FRRS1L gene FRRS1L Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile 37, 616981 27236917;27239025 False 3 67;33;0 21.433 False ENSG00000260230 ENSG00000260230 HGNC:1362 FTCD gene FTCD Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency 229100 27604308;12815595;29178637 False 3 0;0;0 21.433 False ENSG00000160282 ENSG00000160282 HGNC:3974 FUCA1 gene FUCA1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000 False 3 0;0;0 21.433 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUCA1 gene FUCA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000;seizures 10094192;27706744;29588375;8504303 False 3 67;33;0 21.433 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUK gene FUK Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324;congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 30503518;35718084;36426412 False 3 40;60;0 21.433 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUK gene FUK Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324;congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 30503518;35718084;36426412 False 3 67;33;0 21.433 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert Review Green;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 29304374 False 3 100;0;0 21.433 False ENSG00000033170 ENSG00000033170 HGNC:4019 FUT8 gene FUT8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005;seizures 29304374 False 3 67;33;0 21.433 False ENSG00000033170 ENSG00000033170 HGNC:4019 FXN gene FXN Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 27604308 False 3 75;0;25 21.433 False ENSG00000165060 ENSG00000165060 HGNC:3951 FZR1 gene FZR1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 109, OMIM:620145 31318984;34788397 False 3 100;0;0 21.433 False ENSG00000105325 ENSG00000105325 HGNC:24824 G6PC gene G6PC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 27604308 False 3 0;0;0 21.433 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dursun syndrome False 3 0;0;0 21.433 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300 False 3 100;0;0 21.433 False ENSG00000171298 ENSG00000171298 HGNC:4065 GAA gene GAA NHS GMS;South West GLH;London South GLH;MetBioNet;Expert Review Green;MetBioNet;London South GLH;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypotonia, muscle weakness, progressive respiratory failure;syndromic HCM;HCM, mixed;Glycogen storage disease II, 232300;Glycogen storage disease type II (Pompe disease) False 3 100;0;0 21.433 False ENSG00000171298 ENSG00000171298 HGNC:4065 GABBR2 gene GABBR2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 59, OMIM:617904 29100083;28061363;28135719;28856709;39028675 False 3 17;17;67 21.433 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Epilepsy, childhood absence, susceptibility to, 4} 611136;{Epilepsy, juvenile myoclonic, susceptibility to, 5} 611136 24623842;11992121;21714819;16718694;31056671 False 3 83;17;0 21.433 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRA2 gene GABRA2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 78, 618557 29422393;29961870;31032849;31032848;doi.org/10.1101/678219 False 3 100;0;0 21.433 False ENSG00000151834 ENSG00000151834 HGNC:4076 GABRA5 gene GABRA5 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 79, 618559 29961870;31056671 False 3 100;0;0 21.433 False ENSG00000186297 ENSG00000186297 HGNC:4079 GABRB1 gene GABRB1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 45, OMIM:617153;developmental and epileptic encephalopathy, 45, MONDO:0014942 26950270;23934111;27273810;31618474 False 3 50;50;0 21.433 False ENSG00000163288 ENSG00000163288 HGNC:4081 GABRB2 gene GABRB2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 2, 617829 29100083;27789573;25124326 False 3 67;33;0 21.433 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, childhood absence, susceptibility to, 5;EPILEPTIC ENCEPHALOPATHIES Tanaka et al (2008) Am J Hum Genet 82: 1249_1261 False 3 83;17;0 21.433 False ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, idiopathic generalized, 10}, OMIM:613060;{Epilepsy, juvenile myoclonic, susceptibility to}, OMIM:613060;{Generalized epilepsy with febrile seizures plus, type 5, susceptibility to}, OMIM:613060 15115768;29785705;34633442 False 3 12;12;75 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000187730 ENSG00000187730 HGNC:4084 GABRG2 gene GABRG2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Febrile seizures, familial, 8 611277;Epilepsy, generalized, with febrile seizures plus, type 3 611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681 23708187;16510738;15342642;34957497 False 3 100;0;0 21.433 False ENSG00000113327 ENSG00000113327 HGNC:4087 GABRG2 gene GABRG2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Epilepsy, generalized, with febrile seizures plus, type 3 611277;Febrile seizures, familial, 8 611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681" 27066572;11326275;11326274;34957497 False 3 17;17;67 21.433 False ENSG00000113327 ENSG00000113327 HGNC:4087 GAD1 gene GAD1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "?Cerebral palsy, spastic quadriplegic, 1 603513;Developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele" 15571623;26503795;24896178;26350204;32282878 False 3 100;0;0 21.433 False ENSG00000128683 ENSG00000128683 HGNC:4092 GALC gene GALC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 21070211;29391017;30089515;20886637 False 3 67;33;0 21.433 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALC gene GALC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 27604308 False 3 0;0;0 21.433 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism);Galactose epimerase deficiency, OMIM:230350;MONDO:0009257 27604308 False 3 0;0;0 21.433 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200 False 3 0;0;0 21.433 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review Green;Literature;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Galactosemia IV, OMIM:618881;MONDO:0030105 30451973;30910422 False 3 100;0;0 21.433 False ENSG00000143891 ENSG00000143891 HGNC:24063 GALNS gene GALNS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4A;Mucopolysaccharidosis Type IVA;Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis, Type IV;MPS IVA, Morquio A disease (MPS IV, Morquio disease) 27604308 False 3 0;0;0 21.433 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT2 gene GALNT2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt 618885 27508872;32293671 False 3 100;0;0 21.433 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT2 gene GALNT2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt OMIM:618885 27508872;32293671 False 3 100;0;0 21.433 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT3 gene GALNT3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tumoral calcinosis, hyperphosphatemic, familial 211900 15133511 False 3 0;0;0 21.433 False ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Galactosemia, OMIM:230400 27604308 False 3 0;0;0 21.433 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2, 612736;Seizures;Deficiency of guanidinoacetate methyltransferase;GAMT deficiency 15651030;17101918;15108290;19027335;24268530 False 3 29;14;57 21.433 False ENSG00000130005 ENSG00000130005 HGNC:4136 GAMT gene GAMT Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 612736 27604308;17101918;15651030;8651275 False 3 100;0;0 21.433 False ENSG00000130005 ENSG00000130005 HGNC:4136 GARS gene GARS Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2D;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Neuropathy, distal hereditary motor, type VA False 3 100;0;0 21.433 False ENSG00000106105 ENSG00000106105 HGNC:4162 GATM gene GATM London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism);arginine:glycine amidinotransferase deficiency;Cerebral creatine deficiency syndrome 3, 612718 27604308 False 3 100;0;0 21.433 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, 608013;Gaucher disease, type II, 230900;Gaucher disease, type III, 231000;Gaucher disease, type IIIC, 231005;seizures 8929950;15214004;12838552;8829654;8118460;11359469;8544197;9040001 False 3 67;33;0 21.433 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA gene GBA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, 608013;Gaucher disease, type III, 231000;Gaucher disease, type II, 230900;Gaucher disease, type I, 230800;Gaucher disease, type IIIC, 231005;Gaucher disease;Gaucher disease (Sphingolipidoses) 27604308 False 3 0;0;0 21.433 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500;Polyglucosan body disease, adult form, OMIM:263570 27604308 False 3 100;0;0 21.433 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I, 231670 False 3 0;0;0 21.433 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 27604308 False 3 0;0;0 21.433 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCLC gene GCLC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle);Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 27604308 False 3 100;0;0 21.433 False ENSG00000001084 ENSG00000001084 HGNC:4311 GCSH gene GCSH Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423;Glycine encephalopathy;Transient neonatal hyperglycinemia 27604308;16450403;36190515 False 3 67;0;33 21.433 False ENSG00000140905 ENSG00000140905 HGNC:4208 GCSH gene GCSH Expert Review Green;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 Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423;Glycine encephalopathy;Transient neonatal hyperglycinemia 1671321;36190515 False 3 40;20;40 21.433 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDAP1 gene GDAP1 Expert Review Green 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 Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 PMID: 11743579 False 3 67;0;33 21.433 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFAP gene GFAP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease, 203450;seizures 11567214;12034785;29801191;20301351;16505300 False 3 67;33;0 21.433 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFER gene GFER London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Disorders of the mitochondrial import system;Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, 609060;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM:618397 22700954;26016410;29075935 False 3 100;0;0 21.433 False ENSG00000164347 ENSG00000164347 HGNC:29682 GFPT1 gene GFPT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542;Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 21.433 False ENSG00000198380 ENSG00000198380 HGNC:4241 GIF gene GIF London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency 27604308 False 3 0;0;0 21.433 False ENSG00000134812 ENSG00000134812 HGNC:4268 GK gene GK Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency 307030 27604308;8651297;9719371;10737976;10736265 False 3 0;0;0 21.433 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLA gene GLA Expert Review Green;NHS GMS;South West GLH;London South GLH;MetBioNet;MetBioNet;London South GLH;South West GLH 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) Fabry disease, OMIM:301500;Fabry disease, cardiac variant, OMIM:301500;Fabry disease, MONDO:0010526 27604308;39472908;39620496;39995634 False 3 60;40;0 21.433 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLA gene GLA London North GLH;NHS GMS;Expert Review Green 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) Fabry disease, cardiac variant, 301500;Fabry Disease;Fabry disease (Sphingolipidoses);Fabry disease, 301500 27604308 False 3 0;0;0 21.433 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLA gene GLA Expert Review Green;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) Fabry disease, cardiac variant, OMIM:301500 False 3 50;50;0 21.433 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLA gene GLA South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory 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) Fabry disease (301500);syndromic HCM;Fabry disease, cardiac variant (301500) 27532257;28369730;29649853;27225851 False 3 83;17;0 21.433 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type II, 230600;seizures 1909089;1907800;12644936;12644936 False 3 67;33;0 21.433 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLB1 gene GLB1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4B;MPS IVB, Morquio B disease (MPS IV, Morquio disease);Mucopolysaccharidosis type IVB (Morquio), 253010;GM1-gangliosidosis (Sphingolipidoses);GM1-gangliosidosis, type II, 230600;GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis Type IVB;GM1-gangliosidosis, type I, 230500 27604308 False 3 0;0;0 21.433 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899;seizures 10798358;15864413;29304759;29239742;29300369;15557500 False 3 67;33;0 21.433 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLDC gene GLDC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 False 3 0;0;0 21.433 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLRA1 gene GLRA1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 False 3 100;0;0 21.433 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRA2 gene GLRA2 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic, Pilorge type, OMIM:301076 20531469;20479760;26370147;28588452;35294868 False 3 67;33;0 21.433 False Other ENSG00000101958 ENSG00000101958 HGNC:4327 GLRX5 gene GLRX5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;Disorders of iron homeostasis 27604308 False 3 100;0;0 21.433 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLS gene GLS Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412;Developmental and epileptic encephalopathy 71, OMIM:618328;?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 29468182;30970188;30575854;30239721 False 3 67;33;0 21.433 False ENSG00000115419 ENSG00000115419 HGNC:4331 GLS gene GLS Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 71, OMIM:618328 30575854;39559284 False 3 50;50;0 21.433 False ENSG00000115419 ENSG00000115419 HGNC:4331 GLUD1 gene GLUD1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias);Hyperinsulinism-hyperammonemia syndrome, 606762 27604308 False 3 33;0;67 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GLUD1 gene GLUD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762;epilepsy 19046187;10636977;9571255;11214910 False 3 67;33;0 21.433 False ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital 610015 27604308;16267323;21353613 False 3 0;0;0 21.433 False ENSG00000135821 ENSG00000135821 HGNC:4341 GLUL gene GLUL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital, OMIM:610015;Developmental and epileptic encephalopathy 116, OMIM:620806;congenital brain dysgenesis due to glutamine synthetase deficiency, MONDO:0012393;developmental and epileptic encephalopathy 116, MONDO:0970945 16267323;21353613;30158707;38579670;39985170;41083803 False 3 75;25;0 21.433 False ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120;D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750;seizures;Hexosaminidase activator deficiency;Tay-Sachs disease 26203402;8900233;10364519;26203402 False 3 67;33;0 21.433 False ENSG00000196743 ENSG00000196743 HGNC:4367 GM2A gene GM2A London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750 False 3 0;0;0 21.433 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPA gene GMPPA Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) 24035193;28574218 False 3 100;0;0 21.433 False ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green 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, 14 OMIM:615350;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351;muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142" False 3 0;0;0 21.433 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNAO1 gene GNAO1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EPILEPTIC ENCEPHALOPATHY;Epileptic encephalopathy, early infantile, 17 Nakamura (2013);Saitsu (2015) False 3 83;17;0 21.433 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNAQ gene GNAQ Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 25374402;23656586;28126187;34124757 False 3 33;67;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 ENSG00000156052 ENSG00000156052 HGNC:4390 GNB1 gene GNB1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 42 OMIM:616973;intellectual disability, autosomal dominant 42 MONDO:0014855 27108799;25529582 False 3 67;33;0 21.433 False Other ENSG00000078369 ENSG00000078369 HGNC:4396 GNB5 gene GNB5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173 27523599;27677260;28697420;29368331 False 3 33;33;33 21.433 True ENSG00000069966 ENSG00000069966 HGNC:4401 GNE gene GNE London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sialuria OMIM:269921;sialuria MONDO:0010028;Nonaka myopathy OMIM:605820;GNE myopathy MONDO:0011603 26721333 False 3 0;0;0 21.433 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNMT gene GNMT Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "Glycine N-methyltransferase deficiency 606664" 27604308;17660255;11810299;14739680 False 3 0;0;0 21.433 False ENSG00000124713 ENSG00000124713 HGNC:4415 GNPAT gene GNPAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders);Rhizomelic chondrodysplasia punctata, type 2 222765 27604308 False 3 0;0;0 21.433 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type II;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis III alpha/beta;Mucolipidosis II, I-cell disease (Other lysosomal disorders);Mucolipidosis II alpha/beta 27604308 False 3 0;0;0 21.433 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders);mucolipidpsis type III complementation group C;Mucolipidosis, Type III Gamma;Mucolipidosis III gamma 27604308 False 3 0;0;0 21.433 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 27604308 False 3 0;0;0 21.433 False ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum OMIM:231070;geroderma osteodysplastica MONDO:0009271 26000619;18348262;28807865;30631079 False 3 100;0;0 21.433 False ENSG00000120370 ENSG00000120370 HGNC:25676 GOSR2 gene GOSR2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 21549339;30363482;24458321;27618868;23449775 False 3 38;12;50 21.433 False ENSG00000108433 ENSG00000108433 HGNC:4431 GOT2 gene GOT2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 82, OMIM:618721;Developmental and epileptic encephalopathy, 82, MONDO:0032880 31422819 False 3 67;33;0 21.433 False ENSG00000125166 ENSG00000125166 HGNC:4433 GPAA1 gene GPAA1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 67;33;0 21.433 False ENSG00000197858 ENSG00000197858 HGNC:4446 GPD1 gene GPD1 Expert Review Green;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertriglyceridemia, transient infantile, 614480 24549054;22226083 False 3 0;0;0 21.433 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPHN gene GPHN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, OMIM:615501;Developmental and epileptic encephalopathy, MONDO:0100062 26613940;12684523;11095995;22040219;24561070;23393157;34617111 False 3 38;12;50 21.433 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPHN gene GPHN London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, OMIM:615501;Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) 27604308;26613940;24561070;25866352;23393157;23275889;11095995;22040219 False 3 100;0;0 21.433 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPIHBP1 gene GPIHBP1 NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type 1D OMIM:615947;hyperlipoproteinemia, type 1D MONDO:0014412 False 3 100;0;0 21.433 False ENSG00000182851 ENSG00000277494 HGNC:24945 GRHPR gene GRHPR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Primary hyperoxaluria type II (Disorders of glyoxylate metabolism);Hyperoxaluria, primary, type II 27604308 False 3 0;0;0 21.433 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRIA2 gene GRIA2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with language impairment and behavioral abnormalities, OMIM:618917;neurodevelopmental disorder with language impairment and behavioral abnormalities, MONDO:0030060 31300657 False 3 50;50;0 21.433 False ENSG00000120251 ENSG00000120251 HGNC:4572 GRIA4 gene GRIA4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 29220673;18316356 False 3 67;33;0 21.433 False ENSG00000152578 ENSG00000152578 HGNC:4574 GRIK2 gene GRIK2 NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal recessive, 6, OMIM:611092;non-syndromic neurodevelopmental disorder (NDD), autosomal dominant 34375587;17847003;25039795 False 3 100;0;0 21.433 False ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254;intellectual disability, autosomal dominant 8 MONDO:0013655;Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820;neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 25864721;23934111;21376300;28228639;27164704;28051072 False 3 83;17;0 21.433 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, focal, with speech disorder and with or without mental retardation;EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS;LANDAU-KLEFFNER SYNDROME Lesca et al (2013) Nature Genet 45(9) 1061-1068 False 3 83;17;0 21.433 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970;Developmental and epileptic encephalopathy 27, OMIM:616139 20890276;24272827;28377535;35238837;36758276 False 3 83;17;0 21.433 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 46 617162 27616483;30280376 False 3 50;50;0 21.433 False ENSG00000105464 ENSG00000105464 HGNC:4588 GRM7 gene GRM7 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 32286009;32248644 False 3 100;0;0 21.433 False ENSG00000196277 ENSG00000196277 HGNC:4599 GRN gene GRN Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "Ceroid lipofuscinosis, neuronal, 11 OMIM:614706;neuronal ceroid lipofuscinosis 11 MONDO:0013866" 22608501;27021778;28000352;28404863;30922528;31855245 False 3 67;33;0 21.433 False ENSG00000030582 ENSG00000030582 HGNC:4601 GRN gene GRN Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 11, OMIM:614706;neuronal ceroid lipofuscinosis 1, MONDO:0013866 31855245;28404863;30922528 False 3 100;0;0 21.433 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSS gene GSS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase (GSS) deficiency;Glutathione synthetase deficiency 266130;Glutathione synthetase deficiency with 5-oxoprolinuria;Glutathione synthetase deficiency without 5-oxoprolinuria;Pyroglutamic aciduria;5-oxoprolinuria;Hemolytic anemia due to glutathione synthetase deficiency 231900;Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle);Fanconi nephropathy 27604308 False 3 100;0;0 21.433 False ENSG00000100983 ENSG00000100983 HGNC:4624 GSTZ1 gene GSTZ1 Expert Review Green;NHS GMS;Eligibility statement prior genetic testing;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal [Maleylacetoacetate isomerase deficiency], OMIM:617596 27876694 False 3 100;0;0 21.433 False ENSG00000100577 ENSG00000100577 HGNC:4643 GTF3C3 gene GTF3C3 Expert Review Green;NHS GMS;Literature;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, OMIM:621201 28940097;28097321;30552426;40040844 False 3 40;60;0 21.433 False ENSG00000119041 ENSG00000119041 HGNC:4666 GTPBP2 gene GTPBP2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome 617988;Global developmental delay;Intellectual disability;Seizures 26675814;29449720;25061210 False 3 33;67;0 21.433 False ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23 616198 False 3 100;0;0 21.433 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUK1 gene GUK1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, OMIM:621071;mitochondrial dna depletion syndrome 21, MONDO:0976132 39230499 False 3 100;0;0 21.433 False ENSG00000143774 ENSG00000143774 HGNC:4693 GUSB gene GUSB NHS GMS;South West GLH;MetBioNet;Expert Review Green;MetBioNet;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MPS VII, Sly disease (MPS IV, Morquio disease);Mucopolysaccharidosis VII, 253220;MUCOPOLYSACCHARIDOSIS TYPE 7;syndromic HCM;Mucopolysaccharidosis Type VII;Mucopolysaccharidosis, Type VII 27604308 False 3 67;33;0 21.433 False ENSG00000169919 ENSG00000169919 HGNC:4696 GUSB gene GUSB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 7;Mucopolysaccharidosis VII, 253220;MPS VII, Sly disease (MPS IV, Morquio disease);Mucopolysaccharidosis Type VII;Mucopolysaccharidosis, Type VII 27604308 False 3 0;0;0 21.433 False ENSG00000169919 ENSG00000169919 HGNC:4696 GYG1 gene GYG1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV False 3 100;0;0 21.433 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle 27604308;21958591;24579562 False 3 100;0;0 21.433 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disease Type 0, Liver;Glycogen Storage Disorders- Liver;Glycogen storage disease type 0a, liver (Glycogen storage disorders);Glycogen storage disease, type 0, 240600;fasting intolerance without enlarged liver 27604308 False 3 0;0;0 21.433 False ENSG00000111713 ENSG00000111713 HGNC:4707 H3F3A gene H3F3A Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies 33268356 False 3 40;20;40 21.433 False ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay;Intellectual disability;Neurodegeneration;Epilepsy;Facial dysmorphism;Congenital anomalies 33268356 False 3 33;17;50 21.433 False ENSG00000132475 ENSG00000132475 HGNC:4765 HAAO gene HAAO Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations;VACTERL-like phenotype 27604308;17334708;28792876 False 3 0;0;0 21.433 False ENSG00000162882 ENSG00000162882 HGNC:4796 HACE1 gene HACE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures 616756 26424145;26437029;29423242;31321300;33813722 False 3 67;33;0 21.433 False ENSG00000085382 ENSG00000085382 HGNC:21033 HADH gene HADH Expert Review Green;NHS GMS;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency 231530;Hyperinsulinemic hypoglycemia, familial, 4 609975 27604308;11489939;26316438;23430856;23506826;25915078;26316438;27181376 False 3 0;0;100 21.433 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 50;0;50 21.433 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHA gene HADHA NHS GMS;MetBioNet;Expert Review Green;MetBioNet;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD);Trifunctional protein deficiency 609015;Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism;Mitochondrial Trifunctional Protein deficiency;HCM 27604308 False 3 100;0;0 21.433 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 50;0;50 21.433 False ENSG00000138029 ENSG00000138029 HGNC:4803 HADHB gene HADHB NHS GMS;London South GLH;MetBioNet;Expert Review Green;MetBioNet;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD);Trifunctional protein deficiency 609015;Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism;Mitochondrial Trifunctional Protein deficiency;HCM 27604308 False 3 100;0;0 21.433 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000105697 ENSG00000105697 HGNC:15598 HARS2 gene HARS2 Expert Review Green;Expert Review Green;Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Perrault syndrome 2 614926;Perrault syndrome 2, 614926 27650058;21464306 False 3 33;33;33 21.433 False ENSG00000112855 ENSG00000112855 HGNC:4817 HAX1 gene HAX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, 610738 18611981 False 3 50;50;0 21.433 False ENSG00000143575 ENSG00000143575 HGNC:16915 HCCS gene HCCS London North GLH;NHS GMS;Expert Review Green 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;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Microphthalmia, syndromic 7, 309801 27604308 False 3 100;0;0 21.433 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541 24011988;23000143 False 3 67;33;0 21.433 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCFC1 gene HCFC1 Expert Review Green 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 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 False 3 100;0;0 21.433 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 24 Nava et al (2014) Nature Genet 46(6). 640-648 False 3 83;17;0 21.433 False ENSG00000164588 ENSG00000164588 HGNC:4845 HCN2 gene HCN2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Generalized epilepsy with febrile seizures plus, type 11, OMIM:602477;neurodevelopmental disorder, MONDO:0700092 29064616;20437590;12514127;17931874;22131395;40468825 False 3 50;50;0 21.433 True ENSG00000099822 ENSG00000099822 HGNC:4846 HCN4 gene HCN4 Expert Review Green;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome 2, OMIM:163800 19796353;16407510;12750403;17646576 False 3 75;25;0 21.433 False ENSG00000138622 ENSG00000138622 HGNC:16882 HECTD4 gene HECTD4 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250 36401616 False 3 100;0;0 21.433 False ENSG00000173064 ENSG00000173064 HGNC:26611 HECW2 gene HECW2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, seizures, and absent language 617268 27389779;27334371;34321324 False 3 67;33;0 21.433 False ENSG00000138411 ENSG00000138411 HGNC:29853 HEPACAM gene HEPACAM Expert Review Green;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 Megalencephalic leukoencephalopathy with subcortical cysts 2A, OMIM:613925 27389245;21419380 False 3 75;25;0 21.433 True ENSG00000165478 ENSG00000165478 HGNC:26361 HERC2 gene HERC2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 38, OMIM:615516 23065719;23243086;30902390;32571899;27848944;26077850;27759030 False 3 100;0;0 21.433 False ENSG00000128731 ENSG00000128731 HGNC:4868 HEXA gene HEXA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 30006889;21937992;7551830;14972652 False 3 67;33;0 21.433 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXA gene HEXA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 False 3 0;0;0 21.433 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 27604308 False 3 0;0;0 21.433 False ENSG00000049860 ENSG00000049860 HGNC:4879 HEXB gene HEXB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 2967418;21153386;22848519;30075786;28553389;7626071 False 3 33;67;0 21.433 False ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, OMIM:235200 27604308 False 3 100;0;0 21.433 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Alkaptonuria 27604308 False 3 0;0;0 21.433 False ENSG00000113924 ENSG00000113924 HGNC:4892 HGSNAT gene HGSNAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Retinitis Pigmentosa 73;Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930;Mucopolysaccharidosis Type IIIC;MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) 27604308 False 3 0;0;0 21.433 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620;HIBCH deficiency;Methacrylic aciduria (Organic acidurias) 27604308 False 3 100;0;0 21.433 False ENSG00000198130 ENSG00000198130 HGNC:4908 HID1 gene HID1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism;Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 33999436 False 3 100;0;0 21.433 False ENSG00000167861 ENSG00000167861 HGNC:15736 HLCS gene HLCS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency;Holocarboxylase synthetase deficiency, 253270;lactic acidosis with seizures and eczema, immune deficiency;Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS London North GLH;NHS GMS;Expert Review Green 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 Porphyria, acute intermittent OMIM:176000;acute intermittent porphyria MONDO:0008294;Leukoencephalopathy, porphyria-related OMIM:620711;leukoencephalopathy, porphyria-related, MONDO:0958226;Encephalopathy, porphyria-related, OMIM:620704;encephalopathy, porphyria-related, MONDO:0958224 27604308;38940544;27539938;14262853;1577472;15534187;14970743;27558376;31153822;34089223;2511016;1714233 False 3 100;0;0 21.433 False ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL London North GLH;NHS GMS;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias);3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMG-CoA lyase deficiency, 246450;HMGCLD 27604308 False 3 67;0;33 21.433 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCL gene HMGCL Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450;3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMGCLD 28583327;8617516;9463337;11129331 False 3 67;33;0 21.433 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency 27604308 False 3 0;0;100 21.433 False ENSG00000134240 ENSG00000134240 HGNC:5008 HNRNPH2 gene HNRNPH2 Wessex and West Midlands GLH;NHS GMS;Other;Expert Review Green;Expert Review Green;Other 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, X-linked, syndromic, Bain type, 300986;MRXSB 27545675 False 3 67;33;0 21.433 False ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPR gene HNRNPR Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Postnatal microcephaly;Short digit;Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 31079900;26795593 False 3 33;67;0 21.433 False ENSG00000125944 ENSG00000125944 HGNC:5047 HNRNPU gene HNRNPU Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 54, OMIM:617391 22190369;25356899;27652284;23708187 False 3 17;17;67 21.433 False ENSG00000153187 ENSG00000153187 HGNC:5048 HOGA1 gene HOGA1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Hyperoxaluria, primary, type III 613616 27604308 False 3 0;0;0 21.433 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPD gene HPD Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hawkinsinuria 140350;Tyrosinemia, type III 276710" 27604308;10942115;11073718;26226126;30984715;17560158 False 3 0;0;0 21.433 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPDL gene HPDL Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026;Spastic paraplegia 83, autosomal recessive OMIM:619027 32707086 False 3 100;0;0 21.433 False ENSG00000186603 ENSG00000186603 HGNC:28242 HPDL gene HPDL Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, OMIM:619026;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, MONDO:0033613 32707086;33188300 False 3 100;0;0 21.433 False ENSG00000186603 ENSG00000186603 HGNC:28242 HPRT1 gene HPRT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperuricemia, HRPT-related, OMIM:300323;Lesch-Nyhan syndrome, OMIM:300322 27604308 False 3 0;0;0 21.433 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 203300 27604308;8896559;9562579;9705234;10971344 False 3 0;0;0 21.433 False ENSG00000107521 ENSG00000107521 HGNC:5163 HRAS gene HRAS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, 218040;Schimmelpenning-Feuerstein-Mims syndrome, 218040 28337834;27195699;26888048;22926243 False 3 67;33;0 21.433 False ENSG00000174775 ENSG00000174775 HGNC:5173 HRAS gene HRAS NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome;syndromic HCM 16170316;16443854;21396583;16969868 False 3 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 ENSG00000174775 ENSG00000174775 HGNC:5173 HS2ST1 gene HS2ST1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features;congenital anomalies 33159882 False 3 0;100;0 21.433 False ENSG00000153936 ENSG00000153936 HGNC:5193 HSD11B2 gene HSD11B2 Expert Review Green;NHS GMS;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Apparent mineralocorticoid excess, OMIM:218030;apparent mineralocorticoid excess, MONDO:0009025 7670488;7608290;9683587;17314322 False 3 100;0;0 21.433 False ENSG00000176387 ENSG00000176387 HGNC:5209 HSD17B10 gene HSD17B10 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, OMIM:300438 12872843;22132097;26950678;27295195;34765396 False 3 100;0;0 21.433 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B10 gene HSD17B10 Expert Review Green;London North GLH;NHS GMS;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) HSD10 mitochondrial disease, OMIM:300438 19706438;22132097;12696021;26950678;27604308 False 3 100;0;0 21.433 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515 9345094;9482850;9915948;11743515;25967389 False 3 67;33;0 21.433 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD17B4 gene HSD17B4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515;Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 21.433 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis);Bile acid synthesis defect, congenital, 1, 607765 27604308 False 3 100;0;0 21.433 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSPA9 gene HSPA9 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, OMIM:616854 26598328;32869452;35779070;36052765 False 3 100;0;0 21.433 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 London North GLH;NHS GMS;Expert Review Green 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 Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR);Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) 27604308 False 3 100;0;0 21.433 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII 617248 27208207;27696117 False 3 100;0;0 21.433 False ENSG00000115317 ENSG00000115317 HGNC:14348 HTRA2 gene HTRA2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII False 3 67;33;0 21.433 False ENSG00000115317 ENSG00000115317 HGNC:14348 HYAL1 gene HYAL1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mucopolysaccharidosis type IX, 601492;MPS IX, Natowicz (MPS IV, Morquio disease) 27604308 False 3 100;0;0 21.433 False ENSG00000114378 ENSG00000114378 HGNC:5320 IARS2 gene IARS2 Expert Review Green;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));No OMIM phenotype PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene);PMID: 27078007 (full text not available to confirm findings). False 3 100;0;0 21.433 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330;?Spastic paraplegia 74, autosomal recessive, OMIM:616451 23462291;25971455 False 3 100;0;0 21.433 False ENSG00000181873 ENSG00000181873 HGNC:27302 IDH2 gene IDH2 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias);D-2-hydroxyglutaric aciduria 2;D-2-hydroxyglutaric aciduria 2, 613657 20847235;24049096 False 3 100;0;0 21.433 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDH2 gene IDH2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias);D-2-hydroxyglutaric aciduria 2, 613657 24049096;20847235 False 3 100;0;0 21.433 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDH3A gene IDH3A Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, OMIM:619007;retinitis pigmentosa 90, MONDO:0033563 31012789;30478029;30058936;28412069;28058510 False 3 100;0;0 21.433 False ENSG00000166411 ENSG00000166411 HGNC:5384 IDS gene IDS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females MUCOPOLYSACCHARIDOSIS TYPE 2;MPS II, Hunter disease (Mucopolysaccharidoses);Mucopolysaccharidosis II, 309900;Mucopolysaccharidosis Type II 27604308 False 3 0;0;0 21.433 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hurler syndrome;Mucopolysaccharidosis type 1H/S;MPS I, Hurler, Scheie disease (Mucopolysaccharidoses);Scheie syndrome;Hurler-Scheie syndrome;Mucopolysaccharidosis type 1S;Mucopolysaccharidosis type 1H;Mucopolysaccharidosis Ih/s, 607015;Mucopolysaccharidosis, Type I;Mucopolysaccharidosis Is, 607016;Mucopolysaccharidosis Ih, 607014 27604308 False 3 0;0;0 21.433 False ENSG00000127415 ENSG00000127415 HGNC:5391 IDUA gene IDUA NHS GMS;MetBioNet;Expert Review Green;MetBioNet;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MPS I, Hurler, Scheie disease (Mucopolysaccharidoses);Mucopolysaccharidosis type 1H/S;Mucopolysaccharidosis type 1S;Mucopolysaccharidosis Is, 607016;Hurler syndrome;Mucopolysaccharidosis Ih/s, 607015;Scheie syndrome;Mucopolysaccharidosis, Type I;Hurler-Scheie syndrome;Mucopolysaccharidosis Ih, 607014;Mucopolysaccharidosis type 1H 27604308 False 3 100;0;0 21.433 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 24138066;22991235;21835305 False 3 67;0;33 21.433 False ENSG00000134049 ENSG00000134049 HGNC:18550 IER3IP1 gene IER3IP1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Other;Expert Review Green;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 3 67;33;0 21.433 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7, OMIM:615846 24995871;29239743;25604658;24686847;29270977 False 3 67;33;0 21.433 False ENSG00000115267 ENSG00000115267 HGNC:18873 IKBKG gene IKBKG Expert Review Green;Wessex and West Midlands GLH;NHS GMS;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) Incontinentia pigmenti, OMIM:308300 30151858;28794079;24339369;28870493 False 3 75;25;0 21.433 True ENSG00000073009 ENSG00000269335 HGNC:5961 INPP4A gene INPP4A Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 21937992;31978615;31938306;25338135;20011524;36653678;39315527;40748307;40772914 False 3 20;20;60 21.433 False ENSG00000040933 ENSG00000040933 HGNC:6074 IQSEC2 gene IQSEC2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 1, OMIM:309530 20473311;23674175;30842726;31415821;33368194 False 3 83;17;0 21.433 False ENSG00000124313 ENSG00000124313 HGNC:29059 IRF2BPL gene IRF2BPL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088;neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 30057031;28135719;25363768;30166628 False 3 75;25;0 21.433 False ENSG00000119669 ENSG00000119669 HGNC:14282 ISCA1 gene ISCA1 Expert Review Green;Expert Review Green;Expert Review;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 29767723;28356563 False 3 0;0;0 21.433 False ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4 616370 25539947;29359243 False 3 100;0;0 21.433 False ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, 255125;Disorders of iron homeostasis;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Rhabdomyolysis and metabolic muscle disorders 18304497;29079705;18296749;19567699;20206689;21165651;22125086 False 3 100;0;0 21.433 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISPD gene ISPD Expert Review Green 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 26404900;26687144 False 3 0;0;0 21.433 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITPA gene ITPA Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 35, 616647 False 3 67;33;0 21.433 False ENSG00000125877 ENSG00000125877 HGNC:6176 ITPA gene ITPA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Inosine triphosphatase deficiency (Disorders of purine metabolism);Epileptic encephalopathy, early infantile, 35, 616647;[Inosine triphosphatase deficiency], 613850 27604308 False 3 100;0;0 21.433 False ENSG00000125877 ENSG00000125877 HGNC:6176 IVD gene IVD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.;Isovaleric acidemia;Isovaleric aciduria (Organic acidurias) 27604308;24816252 False 3 0;0;0 21.433 False ENSG00000128928 ENSG00000128928 HGNC:6186 JPH2 gene JPH2 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 21.433 False ENSG00000149596 ENSG00000149596 HGNC:14202 JUP gene JUP South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 27532257;23500315 False 3 86;14;0 21.433 False ENSG00000173801 ENSG00000173801 HGNC:6207 JUP gene JUP NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 False 3 100;0;0 21.433 False ENSG00000173801 ENSG00000173801 HGNC:6207 JUP gene JUP Expert List;Expert Review Green;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 Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 23500315;27532257 False 3 86;14;0 21.433 False ENSG00000173801 ENSG00000173801 HGNC:6207 KARS gene KARS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "Global developmental delay;Intellectual disability;Seizures;Charcot-Marie-Tooth disease, recessive intermediate, B - 613641;Deafness, autosomal recessive 89 - 613916" 29615062;30252186;28496994 False 3 67;33;0 21.433 False ENSG00000065427 ENSG00000065427 HGNC:6215 KARS gene KARS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 89, 613916;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 27604308 False 3 100;0;0 21.433 False ENSG00000065427 ENSG00000065427 HGNC:6215 KAT5 gene KAT5 Expert Review Green;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 Severe global developmental delay;Intellectual disability;Seizures;Microcephaly;Behavioral abnormality;Sleep disturbance;Morphological abnormality of the central nervous system;Short stature;Oral cleft;Abnormality of the face 32822602 False 3 40;20;40 21.433 False ENSG00000172977 ENSG00000172977 HGNC:5275 KAT8 gene KAT8 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974;Global developmental delay;Intellectual disability;Seizures;Abnormality of vision;Feeding difficulties;Abnormality of the cardiovascular system;Autism 31794431 False 3 100;0;0 21.433 False Other ENSG00000103510 ENSG00000103510 HGNC:17933 KCNA1 gene KCNA1 Expert Review Green;North West GLH;Wessex and West Midlands GLH;NHS GMS;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia/ myokymia syndrome, OMIM:160120;epilepsy, MONDO:0005027 29056246;11026449;9581771;24578548;30055040;31586945;32316562;34778950 False 3 29;0;71 21.433 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 32 OMIM:616366;developmental and epileptic encephalopathy, 32 MONDO:0014607 25751627;28032718;25477152;29050392 False 3 83;17;0 21.433 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNA3 gene KCNA3 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37964487 False 3 100;0;0 21.433 False ENSG00000177272 ENSG00000177272 HGNC:6221 KCNB1 gene KCNB1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 26 Torkamani et al (2014) Ann. Neurol. 76: 529-540, 2014 False 3 83;17;0 21.433 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNC1 gene KCNC1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, progressive myoclonic 7 616187 25401298;28145425 False 3 17;17;67 21.433 False ENSG00000129159 ENSG00000129159 HGNC:6233 KCNC2 gene KCNC2 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted epileptic encephalopathy;spastic tetraplegia;opisthotonus attacks;intellectual disability;West syndrome 32392612;31972370;35314505 False 3 75;25;0 21.433 False ENSG00000166006 ENSG00000166006 HGNC:6234 KCND2 gene KCND2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy, NBO:0000642;seizure, HP:0001250 24501278;16934482;29581270;34245260 False 3 33;17;50 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000184408 ENSG00000184408 HGNC:6238 KCND3 gene KCND3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 19 (OMIM: 607346);spinocerebellar ataxia type 19/22, MONDO:0011819 26189493;28895081;32823520;31293010;32921676 False 3 100;0;0 21.433 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE1 gene KCNE1 Expert Review Green;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 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695 19716085;31983240;11692163 False 3 75;25;0 21.433 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH1 gene KCNH1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Temple-Baraitser syndrome, OMIM:611816;Zimmermann-Laband syndrome 1, OMIM:135500;Intellectual disability;Encephalopathy without features of TBS/ZLS 18203178;20009591;20683999;21626675;23994350;25420144;33811134 False 3 100;0;0 21.433 False ENSG00000143473 ENSG00000143473 HGNC:6250 KCNH2 gene KCNH2 Expert Review Green;Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1 (609620);Long QT syndrome-2;Long QT syndrome-2 (613688) 19716085;31358886;26888179;7889573;9927399;36269083 False 3 86;14;0 21.433 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNH2 gene KCNH2 West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Long QT syndrome (Version 1.5);Brugada syndrome (Version 1.7);Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada;Short QT syndrome 1 (609620);ventricular fibrillation;cardiac arrest;Short QT syndrome 1 609620;Long QT syndrome-2 (613688);short qt;atrial fibrillation 16226079;16301704;4676148;15828882;19340359;18692916;21130771;25974115;29016797;29759541;16011830;19439805;22194679;16039272;29085299 False 3 71;14;14 21.433 False Other ENSG00000055118 ENSG00000055118 HGNC:6251 KCNH5 gene KCNH5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 112, OMIM:620537 23647072;35874597;36307226;24133262 False 3 50;17;33 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000140015 ENSG00000140015 HGNC:6254 KCNJ10 gene KCNJ10 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME);SESAME syndrome Scholl et al (2009) False 3 83;17;0 21.433 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes, permanent neonatal, with or without neurologic features, 606176;DEND syndrome 25678012;16670688;16609879;27681997;17065345;28943513;27181099 False 3 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 ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ2 gene KCNJ2 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 3, OMIM:609622;Short QT syndrome type 3, MONDO:0012314;Atrial fibrillation, familial, 9, OMIM:613980;Atrial fibrillation, familial, 9, MONDO:0013513;Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 19716085;26888179;11371347;12163457 False 3 86;14;0 21.433 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ2 gene KCNJ2 West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green;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, NOT imprinted Short QT syndrome 3, OMIM:609622;Short QT syndrome type 3, MONDO:0012314;Atrial fibrillation, familial, 9, OMIM:613980;Atrial fibrillation, familial, 9, MONDO:0013513;Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 16226079;16301704;15761194;22155372;23440193;24794859;22311718;22308236;19285083;19710529;25691870 False 3 57;14;29 21.433 False Other ENSG00000123700 ENSG00000123700 HGNC:6263 KCNK4 gene KCNK4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental delay;Intellectual disability;Seizures;Gingival overgrowth;Hypertrichosis 30290154 False 3 33;67;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 ENSG00000182450 ENSG00000182450 HGNC:6279 KCNMA1 gene KCNMA1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cerebellar atrophy, developmental delay, and seizures, OMIM:617643;Cerebellar atrophy, developmental delay, and seizures, MONDO:0060551;Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446;Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276;Liang-Wang syndrome, OMIM:618729;Liang-Wang syndrome, MONDO:0032886;{Epilepsy, idiopathic generalized, susceptibility to, 16}, OMIM:618596;Epilepsy, idiopathic generalized, susceptibility to, 16, MONDO:0032827 15937479;26195193;27567911;29330545;29545233;31152168;31427379 False 3 36;18;45 21.433 True ENSG00000156113 ENSG00000156113 HGNC:6284 KCNQ1 gene KCNQ1 West Midlands, Oxford and Wessex GLH;Expert Review Green;South West GLH;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;UKGTN;Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 2, OMIM:609621;Long QT syndrome-1, OMIM:192500;Atrial fibrillation, familial, 3, OMIM:607554 16226079;16301704;15159330;16109388;26168993;26346102;25974115;29697308 False 3 62;38;0 21.433 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ1 gene KCNQ1 Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome (220400);Atrial fibrillation, familial, 3 (607554);Long QT syndrome-1 (192500);Long QT syndrome-1;Short QT syndrome 2 (609621) 19716085;26888179;8528244;9927399 False 3 86;14;0 21.433 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ2 gene KCNQ2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 7, OMIM:613720;Seizures, benign neonatal, 1, OMIM:121200 10323247;11175290;11572947;14534157;15249611;16235065;17872363;27602407;33811133 False 3 83;17;0 21.433 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2 False 3 83;17;0 21.433 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 46, 617601 28669405;30359776 False 3 67;33;0 21.433 False ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 14;Epilepsy, nocturnal frontal lobe, 5;MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY;SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY Barcia at al (2012) Nature Genet 44(11): 1255-1261;Heron et al (2012) Nature Genet 44(11): 1188-1190 False 3 86;14;0 21.433 False ENSG00000107147 ENSG00000107147 HGNC:18865 KCNT2 gene KCNT2 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 57, OMIM:617771;developmental and epileptic encephalopathy, 57, MONDO:0033366 29069600;29740868;37062836 False 3 75;25;0 21.433 False ENSG00000162687 ENSG00000162687 HGNC:18866 KCTD3 gene KCTD3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal No OMIM number;Epileptic encephalopathy 29406573;27848944;25558065 False 3 67;33;0 21.433 False ENSG00000136636 ENSG00000136636 HGNC:21305 KCTD7 gene KCTD7 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726 22693283;22748208 False 3 17;17;67 21.433 False ENSG00000243335 ENSG00000243335 HGNC:21957 KDM6B gene KDM6B Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, OMIM:618505;neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, MONDO:0032790 37196654 False 3 100;0;0 21.433 False ENSG00000132510 ENSG00000132510 HGNC:29012 KIAA0391 gene KIAA0391 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, OMIM:619737 34715011 False 3 100;0;0 21.433 False ENSG00000100890 ENSG00000100890 HGNC:19958 KIAA1109 gene KIAA1109 Expert Review Green;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 Alkuraya-Kucinskas syndrome 617822;seizures 29290337;19640479;30906834 False 3 33;67;0 21.433 True ENSG00000138688 ENSG00000138688 HGNC:26953 KIF1A gene KIF1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NESCAV syndrome, OMIM:614255 25265257 False 3 33;67;0 21.433 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF2A gene KIF2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 3, 615411 27896282;27747449;23603762 False 3 33;67;0 21.433 False ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5C gene KIF5C Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 2, 615282 23603762;23033978;29048727 False 3 67;33;0 21.433 False ENSG00000168280 ENSG00000168280 HGNC:6325 KLHL20 gene KLHL20 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390 36214804 False 3 100;0;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 ENSG00000076321 ENSG00000076321 HGNC:25056 KLHL24 gene KLHL24 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236;cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 30715372;32870709;36672924 False 3 100;0;0 21.433 False ENSG00000114796 ENSG00000114796 HGNC:25947 KLHL24 gene KLHL24 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, OMIM:617294;epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, MONDO:0015006;Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236;cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 27889062;29779254;30120936;31649980;32870709;35975634;36672924;39472908 False 3 100;0;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 ENSG00000114796 ENSG00000114796 HGNC:25947 KMT2E gene KMT2E Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown O'Donnell-Luria-Rodan syndrome, 618512;Global developmental delay;Intellectual disability;Autism;Seizures;Abnormality of skull size 31079897;34321323 False 3 67;33;0 21.433 False ENSG00000005483 ENSG00000005483 HGNC:18541 KPTN gene KPTN Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 41, OMIM:615637;macrocephaly-developmental delay syndrome, MONDO:0014289 24239382;25847626;32358097;32808430 False 3 60;40;0 21.433 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 3;Noonan syndrome;CFC syndrome;Cardiofaciocutaneous syndrome 2 615278;Noonan syndrome 3 609942;Cardiofaciocutaneous syndrome 2;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome PMID: 21396583 False 3 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 ENSG00000133703 ENSG00000133703 HGNC:6407 KRAS gene KRAS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 2, 615278 21871821;23059812;16474405;21871821;17601930 False 3 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 ENSG00000133703 ENSG00000133703 HGNC:6407 KYNU gene KYNU London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism);VACTERL-like phenotype;multiple congenital malformations;?Hydroxykynureninuria, 236800 27604308;17334708;28792876 False 3 0;0;100 21.433 False ENSG00000115919 ENSG00000115919 HGNC:6469 L2HGDH gene L2HGDH NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 27604308 False 3 0;0;100 21.433 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMC3 gene LAMC3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, OMIM:614115;occipital pachygyria and polymicrogyria, MONDO:0013583 21572413;26802095;29247375;33639934;34354730 False 3 100;0;0 21.433 False ENSG00000050555 ENSG00000050555 HGNC:6494 LAMP2 gene LAMP2 London North GLH;NHS GMS;Expert Review Green 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) Danon disease 27604308 False 3 100;0;0 21.433 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory 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) Danon disease (300257);syndromic HCM 27532257;28369730;26835038 False 3 83;17;0 21.433 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease (300257) 21415759;12084876 False 3 100;0;0 21.433 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 NHS GMS;South West GLH;London South GLH;Expert Review Green 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) syndromic HCM;Danon disease 27604308 False 3 100;0;0 21.433 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 Expert Review Green;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) Danon disease, 300257 False 3 50;50;0 21.433 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154;N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 21.433 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARS gene LARS Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 32699352 False 3 100;0;0 21.433 False ENSG00000133706 ENSG00000133706 HGNC:6512 LARS gene LARS Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Infantile liver failure syndrome 1, 615438 28774368;30349989;22607940 False 3 100;0;0 21.433 False ENSG00000133706 ENSG00000133706 HGNC:6512 LARS2 gene LARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis 27604308 False 3 100;0;0 21.433 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Reynolds syndrome 613471;Greenberg skeletal dysplasia 215140;Pelger-Huet anomaly 169400;Pelger-Huet anomaly with mild skeletal anomalies 618019 27604308;12118250;14617022;18382993;21327084;14684697;25348816;23824842 False 3 0;0;0 21.433 False ENSG00000143815 ENSG00000143815 HGNC:6518 LCAT gene LCAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Norum disease/LCAT deficiency, 245900;Fish-eye disease, 136120;Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000213398 ENSG00000213398 HGNC:6522 LCT gene LCT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lactose intolerance (Other carbohydrate disorders);Lactase deficiency, congenital, 223000 27604308 False 3 100;0;0 21.433 False ENSG00000115850 ENSG00000115850 HGNC:6530 LDB3 gene LDB3 Expert Review Green;NHS GMS;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493;dilated cardiomyopathy, MONDO:0005021 16427346;17097056;36253531 False 3 60;20;20 21.433 False ENSG00000122367 ENSG00000122367 HGNC:15710 LDHA gene LDHA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen storage disease XI, 612933;Muscle LDH deficiency (Glycogen storage disorders) 27604308 False 3 100;0;0 21.433 False ENSG00000134333 ENSG00000134333 HGNC:6535 LDLR gene LDLR Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 1 143890;LDL cholesterol level QTL2 143890 27604308;27821657;30311388 False 3 0;0;0 21.433 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4 603813 27604308;11326085;12016260;12958143;15599766;29245109 False 3 0;0;0 21.433 False ENSG00000157978 ENSG00000157978 HGNC:18640 LETM1 gene LETM1 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214 False 3 50;25;25 21.433 False ENSG00000168924 ENSG00000168924 HGNC:6556 LETM1 gene LETM1 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 21.433 False ENSG00000168924 ENSG00000168924 HGNC:6556 LETM1 gene LETM1 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 21.433 False ENSG00000168924 ENSG00000168924 HGNC:6556 LFNG gene LFNG Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813;O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16385447;29459493;30196550;30531807;33728697;34645488;37038048;38565611 False 3 67;0;33 21.433 False ENSG00000106003 ENSG00000106003 HGNC:6560 LGI1 gene LGI1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Review Green;UKGTN 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 temporal lobe, 1, OMIM:600512;developmental and epileptic encephalopathy, MONDO:0100620 15079010;11810107;22496201;26773249;40455867;41000458 False 3 75;12;12 21.433 False ENSG00000108231 ENSG00000108231 HGNC:6572 LIAS gene LIAS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIAS gene LIAS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures, 614462 False 3 67;33;0 21.433 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIG3 gene LIG3 Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 33855352 False 3 100;0;0 21.433 True ENSG00000005156 ENSG00000005156 HGNC:6600 LIPA gene LIPA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease 27604308 False 3 0;0;0 21.433 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPT1 gene LIPT1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency False 3 100;0;0 21.433 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Green;Expert Review Green 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 28803783;28757203 False 3 0;100;0 21.433 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMBRD1 gene LMBRD1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, 277380 27604308 False 3 0;0;0 21.433 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMBRD2 gene LMBRD2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay with variable neurologic and brain abnormalities, OMIM:619694 32820033;https://doi.org/10.1101/797787 False 3 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 ENSG00000164187 ENSG00000164187 HGNC:25287 LMF1 gene LMF1 NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lipase deficiency, combined OMIM:246650;lipase deficiency, combined MONDO:0009527 17994020;19820022;30885219;30420299;29910226;22239554 False 3 100;0;0 21.433 False ENSG00000103227 ENSG00000103227 HGNC:14154 LMNA gene LMNA Expert Review Green;UKGTN;Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;South West 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 Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, congenital (613205);Malouf syndrome (212112);Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350);Heart-hand syndrome, Slovenian type (610140);Hutchinson-Gilford progeria (176670);Cardiomyopathy, dilated, 1A (115200);Restrictive dermopathy, lethal (275210);Lipodystrophy, familial partial, type 2 (151660);Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516);Charcot-Marie-Tooth disease, type 2B1 (605588);Mandibuloacral dysplasia (248370);Cardiomyopathy, dilated, 1A 20186049;27532257;35348702 False 3 71;14;14 21.433 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Emery-Dreifuss muscular dystrophy 2, AD, 181350;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic;Congenital Muscular Dystrophy, LMNA-related (Dominant);Cardiomyopathy, dilated, 1A 15622532;18551513;15148145 False 3 100;0;0 21.433 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA Expert Review Green;South West GLH;London South GLH;UKGTN;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LMNA-related DCM 35348702 False 3 33;33;33 21.433 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA Expert Review Green;South West GLH;London South GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Laminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465 18035086;27884249;29095976;23582089 False 3 67;33;0 21.433 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD2 gene LMOD2 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal dilated cardiomyopathy, MONDO:0005021 35082396;35188328;34888509;31517052 False 3 100;0;0 21.433 False ENSG00000170807 ENSG00000170807 HGNC:6648 LNPK gene LNPK Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 30032983;35599435 False 3 33;67;0 21.433 False ENSG00000144320 ENSG00000144320 HGNC:21610 LONP1 gene LONP1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) 25574826;25808063 False 3 100;0;0 21.433 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN1 gene LPIN1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive 27604308 False 3 100;0;0 21.433 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPL gene LPL London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoprotein lipase deficiency, 238600;Combined hyperlipidemia, familial, 144250;Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) 27604308 False 3 100;0;0 21.433 False ENSG00000175445 ENSG00000175445 HGNC:6677 LRPPRC gene LRPPRC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111;Mitochondrial Diseases;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 21.433 False ENSG00000138095 ENSG00000138095 HGNC:15714 LSS gene LSS Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Alopecia-intellectual disability syndrome 4, OMIM:618840;alopecia-intellectual disability syndrome 4, MONDO:0030009 30723320;26200341;30401459;29016354 False 3 25;75;0 21.433 False ENSG00000160285 ENSG00000160285 HGNC:6708 LYRM4 gene LYRM4 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, OMIM:615595 23814038;31497476 False 3 100;0;0 21.433 False ENSG00000214113 ENSG00000214113 HGNC:21365 LYRM7 gene LYRM7 Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8;Isolated complex III deficiency;severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle;leukoencephalopathy and complex III deficiency;615838 27564080;24014394;28694194;27151179;26912632 False 3 100;0;0 21.433 False ENSG00000186687 ENSG00000186687 HGNC:28072 LZTR1 gene LZTR1 NHS GMS;Expert List;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 10 616564 29469822;25795793 False 3 100;0;0 21.433 False ENSG00000099949 ENSG00000099949 HGNC:6742 MACF1 gene MACF1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;Seizures;Lissencephaly;Brainstem dysplasia;Lissencephaly 9 with complex brainstem malformation, 618325 30471716 False 3 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 ENSG00000127603 ENSG00000127603 HGNC:13664 MADD gene MADD Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal DEEAH syndrome, OMIM:619004;deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005;neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562 28940097;29302074;32761064 False 3 100;0;0 21.433 False ENSG00000110514 ENSG00000110514 HGNC:6766 MAF gene MAF Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ayme-Gripp syndrome 601088 25865493 False 3 67;33;0 21.433 False ENSG00000178573 ENSG00000178573 HGNC:6776 MAGT1 gene MAGT1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 27604308;27393411;29581357;25956530;21796205 False 3 0;0;0 21.433 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal MAN1B1-CDG (Disorders of protein N-glycosylation);Mental retardation, autosomal recessive 15 614202 27604308 False 3 0;0;0 21.433 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II 27604308 False 3 0;0;0 21.433 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAN2B2 gene MAN2B2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 31775018;35637269;38622837 False 3 100;0;0 21.433 False ENSG00000013288 ENSG00000013288 HGNC:29623 MANBA gene MANBA Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "Mannosidosis, beta 248510" 27604308 False 3 0;0;0 21.433 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome 300615;{Antisocial behavior} 300615 27604308;8211186;24169519;25807999 False 3 0;0;0 21.433 False ENSG00000189221 ENSG00000189221 HGNC:6833 MAP2K1 gene MAP2K1 NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFC syndrome;?Noonan syndrome;syndromic HCM;LEOPARD syndrome;Cardiofaciocutaneous syndrome 3;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome PMID: 21396583;23321623 (publication referring to Noonan syndrome association). False 3 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 ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K1 gene MAP2K1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 3, 615279 18039235;27862862 False 3 67;33;0 21.433 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4, 615280 29799162;24719372;27799067 False 3 67;33;0 21.433 False ENSG00000126934 ENSG00000126934 HGNC:6842 MAP2K2 gene MAP2K2 NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardio-Facio-Cutaneous syndrome type 4;CFC syndrome;Cardiofaciocutaneous syndrome 4 615280;Cardiofaciocutaneous syndrome 4;syndromic HCM;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome 23379592;21396583 False 3 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 ENSG00000126934 ENSG00000126934 HGNC:6842 MAP3K7 gene MAP3K7 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiospondylocarpofacial syndrome, OMIM:157800 35730652;34687574;29467388;27426734 False 3 100;0;0 21.433 False ENSG00000135341 ENSG00000135341 HGNC:6859 MARK2 gene MARK2 Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 76, OMIM:621285;intellectual developmental disorder, autosomal dominant 76, MONDO:0979575 39419027;39436150 False 3 100;0;0 21.433 False ENSG00000072518 ENSG00000072518 HGNC:3332 MARS2 gene MARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spastic Ataxia 13, autosomal recessive, 611390;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));?Combined oxidative phosphorylation deficiency 25 27604308 False 3 100;0;0 21.433 False ENSG00000247626 ENSG00000247626 HGNC:25133 MAST3 gene MAST3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 34185323;35095415 False 3 100;0;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 ENSG00000099308 ENSG00000099308 HGNC:19036 MAST4 gene MAST4 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder MONDO:0700092, MAST4-related 36910266;33057194 False 3 100;0;0 21.433 False ENSG00000069020 ENSG00000069020 HGNC:19037 MAT1A gene MAT1A London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000151224 ENSG00000151224 HGNC:6903 MBD5 gene MBD5 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 1 Wagenstaller et al (2007) Am J Hum Genet 81: 768-779 False 3 83;17;0 21.433 False ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 57 617188 False 3 67;33;0 21.433 False ENSG00000125505 ENSG00000125505 HGNC:15505 MCCC1 gene MCCC1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 27604308;24816252 False 3 0;0;0 21.433 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 27604308 False 3 0;0;0 21.433 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency (Organic acidurias);Methylmalonyl-CoA epimerase deficiency;metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections 27604308 False 3 0;0;0 21.433 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type IV;Mucolipidosis IV (Other lysosomal disorders) 27604308 False 3 0;0;0 21.433 False ENSG00000090674 ENSG00000090674 HGNC:13356 MDH2 gene MDH2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51 False 3 67;33;0 21.433 False ENSG00000146701 ENSG00000146701 HGNC:6971 MDH2 gene MDH2 Expert Review Green;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51 617339 27989324 False 3 100;0;0 21.433 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECP2 gene MECP2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green 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) Encephalopathy, neonatal severe;Angelman syndrome;Mental retardation, X-linked syndromic, Lubs type;Mental retardation, X-linked, syndromic 13;Rett syndrome Wan et al (1999) Am J Hum Genet 5: 1520_1529;Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117;Ramocki et al (2009) Am J Med Genet Part A 152A: 1079_1088;Couvert et al (2001) Hum Mol Genet 10(9): 941-946 False 3 86;14;0 21.433 False ENSG00000169057 ENSG00000169057 HGNC:6990 MECR gene MECR Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 27817865 False 3 100;0;0 21.433 False ENSG00000116353 ENSG00000116353 HGNC:19691 MED11 gene MED11 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327 36001086 False 3 100;0;0 21.433 False ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;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) Lujan-Fryns syndrome, 309520;Opitz-Kaveggia syndrome, 305450 17369503;17334363;24039113;19938245 False 3 75;25;0 21.433 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED27 gene MED27 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Axial hypotonia;Spasticity;Dystonia;Cerebellar hypoplasia;Cataracts;Epilepsy 33443317 False 3 100;0;0 21.433 False ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 20;MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS;Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Le Meur et al (2008) J Med Genet 47: 22-29 False 3 83;17;0 21.433 False ENSG00000081189 ENSG00000081189 HGNC:6996 MFF gene MFF London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2;Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFF gene MFF Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2 617086 False 3 67;33;0 21.433 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 27604308 False 3 100;0;0 21.433 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 61095 False 3 0;0;0 21.433 False ENSG00000164073 ENSG00000164073 HGNC:28486 MFSD8 gene MFSD8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 610951 30249282;30144815;30301600;28586915 False 3 29;14;57 21.433 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type IIa 212066 19419693 False 3 0;0;0 21.433 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Mitochondrial DNA depletion syndrome 11, 615084;Disorders of mitochondrial DNA maintenance and integrity False 3 100;0;0 21.433 False ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs 615673 24336167;29721912 False 3 100;0;0 21.433 False ENSG00000107745 ENSG00000107745 HGNC:1530 MINPP1 gene MINPP1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 33257696;33168985 False 3 100;0;0 21.433 False ENSG00000107789 ENSG00000107789 HGNC:7102 MIPEP gene MIPEP Expert Review Green;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 31, 617228 27799064 False 3 100;0;0 21.433 False ENSG00000027001 ENSG00000027001 HGNC:7104 MLC1 gene MLC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts, 604004;generalized tonic-clonic seizures;focal seizures 21624973;29466841 False 3 67;33;0 21.433 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD NHS GMS;MetBioNet;Expert Review Green;MetBioNet;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism);malonic aciduria;Hypertrophic-hypocontractile cardiomyopathy;Malonyl-CoA decarboxylase deficiency;Mild clinical features. Developmental delay, epilepsy;Malonic aciduria;Malonyl-CoA decarboxylase deficiency (Organic acidurias);HCM 27604308;7609455;9177981;12955715 False 3 100;0;0 21.433 False ENSG00000103150 ENSG00000103150 HGNC:7150 MLYCD gene MLYCD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency;malonic aciduria;Malonyl-CoA decarboxylase deficiency (Organic acidurias);3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) 27604308 False 3 0;0;0 21.433 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive 251100;Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) 27604308 False 3 0;0;0 21.433 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism);Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 27604308 False 3 0;0;0 21.433 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 27604308 False 3 0;0;0 21.433 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMACHC gene MMACHC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 20924684;17431913;30204970 False 3 67;33;0 21.433 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblD type, 277410 False 3 67;33;0 21.433 False ENSG00000168288 ENSG00000168288 HGNC:25221 MMADHC gene MMADHC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 False 3 0;0;0 21.433 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A 252150 27604308;9731530;12754701 False 3 0;0;0 21.433 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS1 gene MOCS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A 252150 False 3 29;14;57 21.433 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B 252160 False 3 29;14;57 21.433 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOCS2 gene MOCS2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B 252160 27604308;10053004;12754701;12732628;11746050;16021469;16737835 False 3 0;0;0 21.433 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb 606056;MOGS-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type IIb, 606056;(MOGS-CDG (Disorders of protein N-glycosylation)) 20301507;26805780;24716661;4716661 False 3 100;0;0 21.433 False ENSG00000115275 ENSG00000115275 HGNC:24862 MOGS gene MOGS Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, 606056 False 3 67;33;0 21.433 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPC1 gene MPC1 Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, OMIM:614741 27176894;22628558;27835892 False 3 100;0;0 21.433 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPDU1 gene MPDU1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180 28122681;11733556;11733564 False 3 67;33;0 21.433 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPDU1 gene MPDU1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180;Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308 False 3 0;0;0 21.433 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257;Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 0;0;0 21.433 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 27604308 False 3 100;0;0 21.433 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRAS gene MRAS Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 11, OMIM:618499;Noonan syndrome 11, MONDO:0032786 28289718;31173466;31108500;31173466 False 3 100;0;0 21.433 False Other ENSG00000158186 ENSG00000158186 HGNC:7227 MRM2 gene MRM2 NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 28973171;36002240 False 3 100;0;0 21.433 False ENSG00000122687 ENSG00000122687 HGNC:16352 MRPL3 gene MRPL3 Expert Review Green;Expert Review Green;NHS GMS;London North 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 9 614582 27815843;21786366 False 3 50;50;0 21.433 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL39 gene MRPL39 Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 59, OMIM:620646 37133451 False 3 100;0;0 21.433 False ENSG00000154719 ENSG00000154719 HGNC:14027 MRPL44 gene MRPL44 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25797485;23315540 False 3 100;0;0 21.433 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPL44 gene MRPL44 NHS GMS;London South GLH;Expert Review Green;Expert Review Green;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 3 100;0;0 21.433 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPL49 gene MRPL49 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 60, OMIM:621195;combined oxidative phosphorylation deficiency, MONDO:0000732 40043708 False 3 100;0;0 21.433 False ENSG00000149792 ENSG00000149792 HGNC:1176 MRPS2 gene MRPS2 Expert Review Green;Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36 617950;No OMIM phenotype 29576219 False 3 0;100;0 21.433 False ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5, 611719;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 21.433 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert Review Green;Literature;Expert Review;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32 617664 28777931 False 3 100;0;0 21.433 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSMO1 gene MSMO1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis);Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 27604308 False 3 100;0;0 21.433 False ENSG00000052802 ENSG00000052802 HGNC:10545 MSTO1 gene MSTO1 NHS GMS;Expert list;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia OMIM:617675;mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 28554942;28544275;37431817 False 3 0;0;0 21.433 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency False 3 100;0;0 21.433 False ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL CYTOCHROME c OXIDASE I DEFICIENCY;SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC;LEBER OPTIC ATROPHY;MYOGLOBINURIA, RECURRENT;CYTOCHROME c OXIDASE DEFICIENCY False 3 100;0;0 21.433 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY False 3 100;0;0 21.433 False ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL LEBER OPTIC ATROPHY;SEIZURES AND LACTIC ACIDOSIS;MITOCHONDRIAL COMPLEX IV DEFICIENCY none False 3 100;0;0 21.433 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL ENCEPHALOMYOPATHY, MITOCHONDRIAL;CARDIOMYOPATHY, INFANTILE HISTIOCYTOID;MULTISYSTEM DISORDER;EXERCISE INTOLERANCE;PARKINSONISM/MELAS OVERLAP SYNDROME;EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA;LEBER OPTIC ATROPHY False 3 100;0;0 21.433 False ENSG00000198727 ENSG00000198727 HGNC:7427 MTFMT gene MTFMT Expert Review Green;Expert Review Green;London North 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 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 21907147;27564080;23499752;24461907 False 3 100;0;0 21.433 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFR gene MTHFR Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, 236250;seizures 9453374;29391032;21778025;12406076;12840091;9587029;30267335;24556013 False 3 67;33;0 21.433 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFR gene MTHFR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport);Homocystinuria due to MTHFR deficiency 27604308 False 3 0;0;0 21.433 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFS gene MTHFS Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 30031689;31844630;22303332;https://doi.org/10.1007/978-3-642-40337-8_10 False 3 100;0;0 21.433 False ENSG00000136371 ENSG00000136371 HGNC:7437 MT-ND1 gene MT-ND1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MELAS SYNDROME;MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;DYSTONIA, ADULT-ONSET;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;SUDDEN INFANT DEATH SYNDROME False 3 100;0;0 21.433 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 21.433 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 21.433 False ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MELAS SYNDROME;LEBER OPTIC ATROPHY AND DYSTONIA;LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 21.433 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL LEBER OPTIC ATROPHY False 3 100;0;0 21.433 False ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MELAS SYNDROME;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;MERRF SYNDROME False 3 100;0;0 21.433 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MELAS SYNDROME;STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA;LEBER OPTIC ATROPHY AND DYSTONIA;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 21.433 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, OMIM:614702;mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MONDO:0013865 22608499;23929671;34547275;34990597;39472908 False 3 100;0;0 21.433 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTO1 gene MTO1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, 614702;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));infantile hypertrophic cardiomyopathy and lactic acidosis. 27604308 False 3 100;0;0 21.433 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTOR gene MTOR Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Other;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Smith-Kingsmore syndrome, OMIM:616638;macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, MONDO:0014716;Focal cortical dysplasia, type II, somatic, OMIM:607341isolated focal cortical dysplasia type II, MONDO:0011818 26018084;27830187;25878179;26542245;28892148 False 3 67;33;0 21.433 False ENSG00000198793 ENSG00000198793 HGNC:3942 MTPAP gene MTPAP Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive 613672 27959697;26319014;25008111;20970105;27391121 False 3 100;0;0 21.433 False ENSG00000107951 ENSG00000107951 HGNC:25532 MTR gene MTR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type 27604308 False 3 0;0;0 21.433 False ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR1 gene MT-RNR1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL DEAFNESS, AMINOGLYCOSIDE-INDUCED;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;AUDITORY NEUROPATHY;CARDIOMYOPATHY, RESTRICTIVE False 3 100;0;0 21.433 False ENSG00000211459 ENSG00000211459 HGNC:7470 MTRR gene MTRR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type 27604308 False 3 0;0;0 21.433 False ENSG00000124275 ENSG00000124275 HGNC:7473 MT-TA gene MT-TA Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MITOCHONDRIAL MYOPATHY;MYOTONIC DYSTROPHY-LIKE MYOPATHY False 3 100;0;0 21.433 False ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MELAS SYNDROME;DYSTONIA, MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MITOCHONDRIAL MYOPATHY, ISOLATED False 3 100;0;0 21.433 False ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS;DIABETES AND DEAFNESS, MATERNALLY INHERITED;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT False 3 100;0;0 21.433 False ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL familial hypertrophic cardiomyopathy, MONDO:0024573;familial dilated cardiomyopathy, MONDO:0016333 False 3 100;0;0 21.433 False ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TI gene MT-TI Expert Review Green;NHS GMS 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 False 3 67;33;0 21.433 False ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL MERRF syndrome, MONDO:0010790 1463006;8228033;18651333;29663531;33766967 False 3 100;0;0 21.433 False ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TK gene MT-TK Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210135 ENSG00000210135 HGNC:7493 MTTP gene MTTP London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100;(ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY);Familial abetalipoproteinaemia (Inherited hypolipidaemias) 27604308 False 3 100;0;0 21.433 False ENSG00000138823 ENSG00000138823 HGNC:7467 MT-TP gene MT-TP Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TT gene MT-TT Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL mitochondrial disease, MONDO:0044970;Leber optic atrophy, OMIM:535000;myoclonic epilepsy associated with ragged-red fibers, OMIM:545000;fatal infantile respiratory enzyme deficiency;Inherited Diabetes Mellitus;adult onset mild myopathy 32083134;8769114;9367299;1645537;8511015;22638997;29760464;30236074;28187756;35808913 False 3 75;25;0 21.433 False ENSG00000210195 ENSG00000210195 HGNC:7499 MT-TV gene MT-TV Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MITOCHONDRIAL False 3 100;0;0 21.433 False ENSG00000210144 ENSG00000210144 HGNC:7502 MUT gene MUT NHS GMS;South West GLH;MetBioNet;Expert Review Green;MetBioNet;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal DCM;Methylmalonic aciduria, mut(0) type 251000;Hypertrophic-hypocontractile cardiomyopathy;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Methylmalonic aciduria;Methylmalonyl-CoA mutase deficiency (Organic acidurias);metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. 27604308 False 3 100;0;0 21.433 False ENSG00000146085 ENSG00000146085 HGNC:7526 MUT gene MUT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.;Methylmalonic aciduria, mut(0) type 251000;Methylmalonyl-CoA mutase deficiency (Organic acidurias) 27604308 False 3 0;0;0 21.433 False ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377;Porokeratosis 3, multiple types, OMIM:175900 27604308;10417275;16835861;10369261;16435210;26202976 False 3 0;0;0 21.433 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYBPC3 gene MYBPC3 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 4,;Cardiomyopathy, dilated, 1MM;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10, False 3 100;0;0 21.433 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYBPC3 gene MYBPC3 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 4, ;Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM (615396) 27532257;28369730;30681346 False 3 83;17;0 21.433 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYBPC3 gene MYBPC3 Expert Review Green;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, 1MM;Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM (615396) 20186049;27532257 False 3 33;33;33 21.433 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 3, OMIM:614089;Cardiomyopathy, dilated, 1EE OMIM:613252;Cardiomyopathy, hypertrophic, 14, OMIM:613251;{Sick sinus syndrome 3}, OMIM:614090 15735645;20656787;28991257 False 3 100;0;0 21.433 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 1, OMIM:192600;Hypertrophic cardiomyopathy 1, MONDO:0008647;Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262;Left ventricular noncompaction 5, OMIM:613426 False 3 100;0;0 21.433 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH7 gene MYH7 Expert Review Green;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, imprinted status unknown Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262;Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050 20186049;27532257 False 3 83;17;0 21.433 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH7 gene MYH7 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 1, OMIM:192600;Hypertrophic cardiomyopathy 1, MONDO:0008647 27532257;28369730;30681346;27532257 False 3 83;17;0 21.433 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424;Cardiomyopathy, hypertrophic, 10, OMIM:608758 12404107;23365102;25611685;31127036;32453731;33731536 False 3 100;0;0 21.433 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL2 gene MYL2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424;Cardiomyopathy, hypertrophic, 10, OMIM:608758 23365102;27532257;28369730;30681346;31127036;32453731;33731536 False 3 86;14;0 21.433 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 8,;Cardiomyopathy, familial hypertrophic, 8 (608751) 27532257;28369730;30681346 False 3 83;17;0 21.433 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYL3 gene MYL3 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 8, False 3 100;0;0 21.433 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYLK3 gene MYLK3 Expert Review Green;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 3 0;100;0 21.433 False ENSG00000140795 ENSG00000140795 HGNC:29826 MYPN gene MYPN NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomypathy, familial hypertrophic, 22,;Cardiomyopathy, dilated, 1KK False 3 100;0;0 21.433 False ENSG00000138347 ENSG00000138347 HGNC:23246 MYZAP gene MYZAP Expert Review Green;NHS GMS;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 3 50;0;50 21.433 False Other ENSG00000263155 ENSG00000263155 HGNC:43444 NACC1 gene NACC1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 28132692 False 3 50;50;0 21.433 False ENSG00000160877 ENSG00000160877 HGNC:20967 NADK2 gene NADK2 Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 24847004;29388319;27940755 False 3 100;0;0 21.433 False ENSG00000152620 ENSG00000152620 HGNC:26404 NAGA gene NAGA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Kanzaki disease False 3 0;0;0 21.433 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGA gene NAGA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I, 609241;seizures 8071745;11313741;8782044 False 3 67;33;0 21.433 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 3B;Mucopolysaccharidosis Type IIIB 27604308 False 3 0;0;0 21.433 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias);N-acetylglutamate synthase deficiency 27604308 False 3 0;0;0 21.433 False ENSG00000161653 ENSG00000161653 HGNC:17996 NAPB gene NAPB Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 107, OMIM:620033 28097321;33189936;26235277;21040848 False 3 100;0;0 21.433 False ENSG00000125814 ENSG00000125814 HGNC:15751 NARS gene NARS Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091;Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092 32738225;32788587 False 3 100;0;0 21.433 False ENSG00000134440 ENSG00000134440 HGNC:7643 NARS2 gene NARS2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 24 25629079;25807530;25385316 False 3 100;0;0 21.433 False ENSG00000137513 ENSG00000137513 HGNC:26274 NARS2 gene NARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24, 616239;seizures 25385316;25629079;28077841;25807530 False 3 67;33;0 21.433 False ENSG00000137513 ENSG00000137513 HGNC:26274 NAXD gene NAXD Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321;NAD(P)HX dehydratase deficiency, MONDO:0034121 30576410;32462209;39472908;39822994 False 3 100;0;0 21.433 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXD gene NAXD Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 30576410;33224489;31755961 False 3 100;0;0 21.433 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 27616477;27290639;27122014 False 3 100;0;0 21.433 False ENSG00000163382 ENSG00000163382 HGNC:18453 NBEA gene NBEA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;No OMIM number 30269351;28554332;12746398;12826745;11450821;3377648;23277425;22109531;23153818 False 3 67;33;0 21.433 False ENSG00000172915 ENSG00000172915 HGNC:7648 NDE1 gene NDE1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019 21529752;21529751;22526350 False 3 67;33;0 21.433 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDUFA1 gene NDUFA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Mitochondrial complex I deficiency, 252010 17262856;19185523;29272804 False 3 67;33;0 21.433 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA1 gene NDUFA1 London North GLH;NHS GMS;Expert Review Green 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, 252010;Mitochondrial Diseases;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308;28247337;17262856;19185523;21596602 False 3 100;0;0 21.433 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA10 gene NDUFA10 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000 21150889;26741492;28247337 False 3 67;33;0 21.433 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, 618236 False 3 100;0;0 21.433 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA11 gene NDUFA11 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Green;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 23, OMIM:618244 21617257;33715266;35141356 False 3 67;0;33 21.433 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 25901006;32722639 False 3 75;0;25 21.433 False ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA2 gene NDUFA2 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13, 618235 False 3 100;0;0 21.433 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Expert Review Green;Expert Review Green;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 21, OMIM:619065;mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 23746447;29636225 False 3 50;50;0 21.433 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert Review Green;Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 3 0;100;0 21.433 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA8 gene NDUFA8 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 15576045;33153867;32385911 False 3 67;33;0 21.433 False ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Green;Expert Review Green;NHS GMS;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3;Isolated complex I deficiency;Mitochondrial complex I deficiency, nuclear type 26, 618247;Leigh syndrome due to mitochondrial complex I deficiency, 256000 28671271;22114105 False 3 33;33;33 21.433 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, 618234 False 3 100;0;0 21.433 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF1 gene NDUFAF1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF2 gene NDUFAF2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 18180188;26795593;22644603 False 3 67;33;0 21.433 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex 1 deficiency, 252010;Mitochondrial Diseases;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF5 gene NDUFAF5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex 1 deficiency 252010 18940309;19542079;21607760;29581464;30473481 False 3 67;33;0 21.433 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 London North GLH;NHS GMS;Expert Review Green;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;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 3 0;0;0 21.433 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 28040730;32025618;33169436 False 3 50;50;0 21.433 False ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert Review Green 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 3;microphthalmia with linear skin defects syndrome;histiocytoid cardiomyopathy;Isolated complex I deficiency False 3 100;0;0 21.433 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB11 gene NDUFB11 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green 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 30, 301021;Linear skin defects with multiple congenital anomalies 3, 300952 False 3 100;0;0 21.433 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 27604308 False 3 100;0;0 21.433 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB7 gene NDUFB7 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 33502047;27626371;40025060 False 3 50;50;0 21.433 False ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB8 gene NDUFB8 Expert Review Green;Expert Review Green;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;No OMIM phenotype;Isolated complex I deficiency 27290639;29429571 False 3 0;100;0 21.433 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFC2 gene NDUFC2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 32969598 False 3 50;50;0 21.433 False ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS1 gene NDUFS1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS2 gene NDUFS2 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, 618228 False 3 100;0;0 21.433 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS4 gene NDUFS4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 256000;Mitochondrial complex I deficiency 252010 28371352;27671926;27079373;19107570;9463323;11181577 False 3 67;33;0 21.433 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Complex I, mitochondrial respiratory chain, deficiency of, 252010;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 2, 618222;Leigh syndrome due to mitochondrial complex I deficiency 15159508;22499348;9837812 False 3 50;50;0 21.433 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFS8 gene NDUFS8 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 False 3 100;0;0 21.433 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFS8 gene NDUFS8 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency 252010 11349233;10080174;30090137;29976978;29948731;20153825;25615419;23266820 False 3 50;50;0 21.433 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV1 gene NDUFV1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, 618229 False 3 100;0;0 21.433 False ENSG00000178127 ENSG00000178127 HGNC:7717 NDUFV2 gene NDUFV2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) 27604308 False 3 100;0;0 21.433 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEDD4L gene NEDD4L Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Periventricular nodular heterotopia 7, OMIM:617201;periventricular nodular heterotopia 7, MONDO:0014966 28515470;23934111;28212375;27694961;32117442 False 3 60;40;0 21.433 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEU1 gene NEU1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550;Mucolipidosis, Type I 27604308 False 3 0;0;0 21.433 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROD2 gene NEUROD2 NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 72, OMIM:618374 16504944;30323019;33438828 False 3 100;0;0 21.433 False ENSG00000171532 ENSG00000171532 HGNC:7763 NEXMIF gene NEXMIF Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review 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, X-linked 98, 300912 23615299;27358180 False 3 83;17;0 21.433 False ENSG00000050030 ENSG00000050030 HGNC:29433 NEXN gene NEXN NHS GMS;South West GLH;London South GLH;Expert Review Green 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 Cardiomyopathy, dilated, 1CC, OMIM:613122;Cardiomyopathy, hypertrophic, 20, OMIM:613876 False 3 100;0;0 21.433 False ENSG00000162614 ENSG00000162614 HGNC:29557 NEXN gene NEXN Expert Review Green;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, 1CC, OMIM:613122;Cardiomyopathy, dilated, 2M, autosomal recessive, OMIM:621261 19881492;27532257;32058062;33027564;33949776;35166435 False 3 38;50;12 21.433 False ENSG00000162614 ENSG00000162614 HGNC:29557 NF1 gene NF1 Expert Review Green;NHS GMS;Expert List;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1, OMIM:162200;Neurofibromatosis, familial spinal, OMIM:162210;Neurofibromatosis-Noonan syndrome, OMIM:601321;Watson syndrome, OMIM:193520;cardiomyopathy, MONDO:0004994 12707950;16380919;19845691;23278345;30919579;38654147;39472908 False 3 100;0;0 21.433 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFS1 gene NFS1 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 52, OMIM:619386 24498631;33457206 False 3 60;0;40 21.433 False ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal OrphaNet: ORPHA404454;Congenital disorder of deglycosylation 615273;Alacrimia-choreoathetosis-liver dysfunction syndrome;OMIM:615273 25220016;26350515;25900930;24651605;25605922;22581936;25707956 False 3 0;0;0 21.433 False ENSG00000151092 ENSG00000151092 HGNC:17646 NGLY1 gene NGLY1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation 615273 22581936;24651605 False 3 67;33;0 21.433 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 12958597 False 3 29;14;57 21.433 False ENSG00000187566 ENSG00000187566 HGNC:21576 NHLRC1 gene NHLRC1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 27604308 False 3 0;0;0 21.433 False ENSG00000187566 ENSG00000187566 HGNC:21576 NKX2-5 gene NKX2-5 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 21.433 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX2-5 gene NKX2-5 NHS GMS;Expert Review Green;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 False 3 100;0;0 21.433 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX2-5 gene NKX2-5 Expert Review Green;South West GLH;London South GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 7, with or without AV conduction defects OMIM:108900 28259982;15109497 False 3 50;50;0 21.433 False ENSG00000183072 ENSG00000183072 HGNC:2488 NNT gene NNT Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 27129361;28546232 False 3 100;0;0 21.433 False ENSG00000112992 ENSG00000112992 HGNC:7863 NONO gene NONO NHS GMS;Expert Review Green 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) False 3 100;0;0 21.433 False ENSG00000147140 ENSG00000147140 HGNC:7871 NOTCH3 gene NOTCH3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092 39191170 False 3 100;0;0 21.433 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1 27604308 False 3 0;0;0 21.433 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2, 607625 27604308 False 3 0;0;0 21.433 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPRL2 gene NPRL2 Expert Review Green;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 Epilepsy, familial focal, with variable foci 2, OMIM:617116 26505888;27173016;30093711;34965576 False 3 50;50;0 21.433 False ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 3, 617118 26505888;26285051;27173016;34965576 False 3 67;33;0 21.433 False ENSG00000103148 ENSG00000103148 HGNC:14124 NR4A2 gene NR4A2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 32366965;31428396 False 3 100;0;0 21.433 False ENSG00000153234 ENSG00000153234 HGNC:7981 NRAP gene NRAP Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 Edit 30384889;33534821;28611399;https://doi.org/10.1101/2020.10.12.20211474;32870709 False 3 100;0;0 21.433 False ENSG00000197893 ENSG00000197893 HGNC:7988 NRAS gene NRAS NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFC Syndrome;Noonan syndrome;Noonan syndrome 6;Noonan syndrome 6 613224;syndromic HCM;Cardio-Facio-cutanenous syndrome 19775298;19966803 False 3 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 ENSG00000213281 ENSG00000213281 HGNC:7989 NRROS gene NRROS Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Seizures, early-onset, with neurodegeneration and brain calcification 618875 32100099;32197075;28459434 False 3 100;0;0 21.433 False ENSG00000174004 ENSG00000174004 HGNC:24613 NRXN1 gene NRXN1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pitt-Hopkins-like syndrome 2, OMIM:614325 (AR);Complex neurodevelopmental disorder (AD) 21964664;19896112;30031152;23533028;22617343 False 3 25;25;50 21.433 True ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome 1, 117550 15942875 False 3 67;33;0 21.433 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL London North GLH;NHS GMS;Expert Review Green 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 hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis);CHILD syndrome 308050 XLD;CK syndrome 300831 XLR 27604308 False 3 0;0;0 21.433 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSDHL gene NSDHL Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 CK syndrome 300831 19377476;19842190;25900314 False 3 67;33;0 21.433 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal NSRP1-associated developmental delay, epilepsy and microcephaly 34385670 False 3 100;0;0 21.433 False ENSG00000126653 ENSG00000126653 HGNC:25305 NSUN3 gene NSUN3 Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, OMIM:619012 27356879;32488845 False 3 100;0;0 21.433 False ENSG00000178694 ENSG00000178694 HGNC:26208 NT5C3A gene NT5C3A London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency, 266120;Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000122643 ENSG00000122643 HGNC:17820 NT5E gene NT5E Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Calcification of joints and arteries, OMIM:211800;hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 21288095;26010187;28825389;32522903;34999808;26178434;27045881 False 3 100;0;0 21.433 False ENSG00000135318 ENSG00000135318 HGNC:8021 NTRK2 gene NTRK2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 58 (MIM 617830);Obesity, hyperphagia, and developmental delay (MIM 613886) 29100083;15494731 False 3 67;33;0 21.433 False ENSG00000148053 ENSG00000148053 HGNC:8032 NUBPL gene NUBPL London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUP214 gene NUP214 Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426;encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742 31178128;30758658 False 3 100;0;0 21.433 False ENSG00000126883 ENSG00000126883 HGNC:8064 NUS1 gene NUS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mental retardation, autosomal dominant 55, with seizures, OMIM:617831;Congenital disorder of glycosylation, type 1aa, OMIM:617082 25066056;29100083;24824130;30348779;31656175 False 3 33;67;0 21.433 False ENSG00000153989 ENSG00000153989 HGNC:21042 NUS1 gene NUS1 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831;?Congenital disorder of glycosylation, type 1aa, OMIM:617082 25066056;31656175;32334381;32485575;33731878 False 3 75;25;0 21.433 False ENSG00000153989 ENSG00000153989 HGNC:21042 OAT gene OAT London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism);Gyrate atrophy of choroid and retina with or without ornithinemia 27604308 False 3 0;0;0 21.433 False ENSG00000065154 ENSG00000065154 HGNC:8091 OCLN gene OCLN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1 251290 20727516 False 3 67;33;0 21.433 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, OMIM:300555;Lowe syndrome, OMIM:309000 27604308;8504307;9632163;9632163;15627218;27625797;33517444 False 3 0;0;0 21.433 False ENSG00000122126 ENSG00000122126 HGNC:8108 OGDH gene OGDH Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740;oxoglutaricaciduria, MONDO:0008759 27604308;32383294;36520152 False 3 60;0;40 21.433 False ENSG00000105953 ENSG00000105953 HGNC:8124 OGDHL gene OGDHL NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Yoon-Bellen neurodevelopmental syndrome, OMIM:619701 28017472;34800363 False 3 100;0;0 21.433 False ENSG00000197444 ENSG00000197444 HGNC:25590 OPA1 gene OPA1 London North GLH;NHS GMS;Expert Review Green 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 Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896;Behr syndrome, OMIM:210000 27604308;28494813;27150940;24970096;11017079;11017080;17722006;25012220 False 3 100;0;0 21.433 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias);3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 27604308 False 3 100;0;0 21.433 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance 300486;MENTAL RETARDATION X-LINKED OPHN1-RELATED 9582072;9582072;16221952;16221952;29510240 False 3 67;33;0 21.433 False ENSG00000079482 ENSG00000079482 HGNC:8148 OTC gene OTC London North GLH;NHS GMS;Expert Review Green 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) Ornithine transcarbamylase deficiency, 311250;Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 21.433 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTUD6B gene OTUD6B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452 28343629 False 3 67;33;0 21.433 False ENSG00000155100 ENSG00000155100 HGNC:24281 OTUD7A gene OTUD7A Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy, MONDO:0100062 31997314;29395075;29395074;33381903;36180924 False 3 75;0;25 21.433 False ENSG00000169918 ENSG00000169918 HGNC:20718 OXCT1 gene OXCT1 NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency;severe ketosis on fasting often ketotic in fed state no hepatomegaly;Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism);Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;100 21.433 False ENSG00000083720 ENSG00000083720 HGNC:8527 OXR1 gene OXR1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 213000 31785787;22028674 False 3 100;0;0 21.433 False ENSG00000164830 ENSG00000164830 HGNC:15822 P4HTM gene P4HTM Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493;Seizures;Intellectual disability;Global developmental delay 30940925 False 3 67;33;0 21.433 False ENSG00000178467 ENSG00000178467 HGNC:28858 PABPC1 gene PABPC1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Global developmental delay;Expressive language delay;Intellectual disability;Behavioral abnormality;Seizures 35511136 False 3 75;25;0 21.433 False ENSG00000070756 ENSG00000070756 HGNC:8554 PACS1 gene PACS1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schuurs-Hoeijmakers syndrome, 615009 28111752;26842493;23159249 False 3 75;25;0 21.433 False ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 66, 618067 29656858;22488736;28867141 False 3 75;25;0 21.433 False ENSG00000179364 ENSG00000179364 HGNC:23794 PAFAH1B1 gene PAFAH1B1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 1, OMIM:607432;Subcortical laminar heterotopia, OMIM:607432 9760204;11115846;11502906;11754098;18285425;19667223;19050731;25140959 False 3 67;33;0 21.433 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Phenylketonuria 27604308;24816252 False 3 0;0;0 21.433 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAH gene PAH Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Phenylketonuria 261600 27830119;29560316;29025426;29899773;29579554 False 3 33;67;0 21.433 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAK1 gene PAK1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158)" 30290153;doi.org/10.1093/brain/awz264 False 3 67;33;0 21.433 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000149269 ENSG00000149269 HGNC:8590 PANK2 gene PANK2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal HARP syndrome 607236;Neurodegeneration with brain iron accumulation 234200 27604308;11479594;12510040;12058097;14638969;16240131 False 3 100;0;0 21.433 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.;Epileptic encephalopathy, early infantile, 75, 618437;Alpers syndrome 28077841;25629079;29410512;29915213 False 3 100;0;0 21.433 False ENSG00000162396 ENSG00000162396 HGNC:30563 PARS2 gene PARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 75, 618437 22237560;25629079;27290639;29410512;29410512;29915213 False 3 67;33;0 21.433 False ENSG00000162396 ENSG00000162396 HGNC:30563 PC gene PC London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 27604308 False 3 100;0;0 21.433 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D 27604308 False 3 0;0;0 21.433 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA NHS GMS;South West GLH;MetBioNet;Expert Review Green;MetBioNet;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal DCM;Hypertrophic-hypocontractile cardiomyopathy;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Propionicacidemia;Propionic aciduria;Propionicacidemia 606054;Propionic acidemia;Propionic aciduria (Organic acidurias);metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections 27604308 False 3 100;0;0 21.433 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCA gene PCCA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia;Propionic acidemia;Propionicacidemia 606054;metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections;Propionic aciduria (Organic acidurias) 27604308 False 3 0;0;0 21.433 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCA gene PCCA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 2213454;25875215;30014764;22593918 False 3 67;33;0 21.433 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);Propionic acidemia;Propionicacidemia 606054;Propionicacidemia;Propionic aciduria (Organic acidurias) 27604308 False 3 0;0;0 21.433 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCCB gene PCCB NHS GMS;South West GLH;MetBioNet;Expert Review Green;MetBioNet;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);DCM;Hypertrophic-hypocontractile cardiomyopathy;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Propionicacidemia;Propionic aciduria;Propionicacidemia 606054;Propionic acidemia;Propionic aciduria (Organic acidurias) 27604308 False 3 100;0;0 21.433 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCCB gene PCCB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 22593918;30014764 False 3 67;33;0 21.433 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures, spasticity, and brain calcification 251280 27164683;29556033;28804758 False 3 40;20;40 21.433 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH19 gene PCDH19 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green 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) Epileptic encephalopathy, early infantile, 9 Hynes et al (2010) J Med Genet 47: 211-216 False 3 83;17;0 21.433 False ENSG00000165194 ENSG00000165194 HGNC:14270 PCDHGC4 gene PCDHGC4 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880 34244665 False 3 100;0;0 21.433 False ENSG00000242419 ENSG00000242419 HGNC:8717 PCK1 gene PCK1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 27604308;24863970;26971250;28216384 False 3 0;0;0 21.433 False ENSG00000124253 ENSG00000124253 HGNC:8724 PCSK9 gene PCSK9 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 3 603776;{Low density lipoprotein cholesterol level QTL 1} 603776 27604308;12730697;14727179;15772090;15654334;16909389;26541928 False 3 100;0;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 ENSG00000169174 ENSG00000169174 HGNC:20001 PCYT2 gene PCYT2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Cerebral atrophy;Cerebellar atrophy;Spastic paraplegia 82, autosomal recessive, 618770 31637422 False 3 100;0;0 21.433 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDE12 gene PDE12 Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970 28745585;29903433;39567835 False 3 67;0;33 21.433 False ENSG00000174840 ENSG00000174840 HGNC:25386 PDHA1 gene PDHA1 London North GLH;NHS GMS;Expert Review Green 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) Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism);Leigh syndrome, X-linked, 308930;Pyruvate dehydrogenase E1-alpha deficiency, 312170 27604308 False 3 100;0;0 21.433 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHA1 gene PDHA1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Pyruvate dehydrogenase E1-alpha deficiency 312170;X-LINKED LEIGH SYNDROME;PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES;INTELLECTUAL DISABILTIY 8664900;10679936 False 3 67;33;0 21.433 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 27604308 False 3 100;0;0 21.433 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 27604308 False 3 100;0;0 21.433 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDHX gene PDHX Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 11935326;16904023;25087164 False 3 67;33;0 21.433 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDK3 gene PDK3 Expert Review Green;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) ?Charcot-Marie-Tooth disease, X-linked dominant, 6 300905 23297365;26801680;27388934;28902413;32504000;34387338 False 3 50;25;25 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000067992 ENSG00000067992 HGNC:8811 PDP1 gene PDP1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782;Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, 614651;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 21.433 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3, 614652;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 21.433 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEPD gene PEPD Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency 170100 27604308;2365824;2365824;8198124;15309682;16470701 False 3 0;0;0 21.433 False ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;seizures 24462369;23829769 False 3 67;33;0 21.433 False ENSG00000229833 ENSG00000229833 HGNC:40038 PET100 gene PET100 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome;Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency 24462369 False 3 100;0;0 21.433 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539;Peroxisome biogenesis disorder 1A (Zellweger) 214100 27604308 False 3 0;0;0 21.433 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 6A (Zellweger) 614870;Peroxisome biogenesis disorder 6B 614871 27604308 False 3 0;0;0 21.433 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B False 3 0;0;0 21.433 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 3A (Zellweger), 614859;Peroxisome biogenesis disorder 3B 27604308 False 3 0;0;0 21.433 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 11A (Zellweger) 27604308 False 3 0;0;0 21.433 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), OMIM:614887;peroxisome biogenesis disorder 13A (Zellweger), MONDO:0013952 27604308;37493040 False 3 100;0;0 21.433 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisome biogenesis disorder 8A, (Zellweger), 614876;Peroxisomal biogenesis disorders;Zellweger Syndrome 27604308 False 3 0;0;0 21.433 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 12A (Zellweger) 27604308 False 3 0;0;0 21.433 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 5A (Zellweger), 614866;Peroxisome biogenesis disorder 5B, 614867 27604308 False 3 0;0;0 21.433 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 7A (Zellweger) 61487;Peroxisome biogenesis disorder 7B 614873 27604308 False 3 0;0;0 21.433 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 10A (Zellweger) 614882 27604308 False 3 0;0;0 21.433 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 2A (Zellweger) 27604308 False 3 0;0;0 21.433 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862;peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930;Peroxisome biogenesis disorder 4B OMIM:614863;peroxisome biogenesis disorder 4B MONDO:0013931 27604308;29220678;20301621 False 3 100;0;0 21.433 False Other ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B 614879;Rhizomelic chondrodysplasia punctata, type 1;Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) 27604308 False 3 0;0;0 21.433 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII 27604308 False 3 100;0;0 21.433 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X 261670 27604308;28779239 False 3 100;0;0 21.433 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGAP2 gene PGAP2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3 614207;PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 27604308 False 3 0;0;0 21.433 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4 24439110 False 3 0;0;0 21.433 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Congenital disorder of deglycosylation 615273;Glycogen storage disease type XIV (Glycogen storage disorders);Congenital disorder of glycosylation, type It, 614921;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease Type XIV;Glycogen storage disease XIV, 612934 27206562 False 3 100;0;0 21.433 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM2L1 gene PGM2L1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities, OMIM:620191 33979636 False 3 100;0;0 21.433 False ENSG00000165434 ENSG00000165434 HGNC:20898 PGM3 gene PGM3 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 24698316 False 3 0;0;0 21.433 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHACTR1 gene PHACTR1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 70, OMIM:618298 30256902;23033978;28135719 False 3 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 ENSG00000112137 ENSG00000112137 HGNC:20990 PHGDH gene PHGDH Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency 601815 11055895;19235232 False 3 67;33;0 21.433 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHGDH gene PHGDH Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 27604308;24816252;11055895;11034457;19235232;24836451;25152457 False 3 0;0;0 21.433 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, 300559 27604308 False 3 100;0;0 21.433 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease, type IXa2, 306000;Glycogen storage disease, type IXa1, 306000;hepatomegaly and mild hypoglycaemia;Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) 27604308 False 3 0;0;0 21.433 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease;Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) 27604308 False 3 100;0;0 21.433 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen Storage Disorders- Liver;Glycogen Storage Disease;Glycogen storage disease IXc, 613027;Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders);Cirrhosis due to liver phosphorylase kinase deficiency 27604308 False 3 0;0;0 21.433 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHYH gene PHYH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500;Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 21.433 False ENSG00000107537 ENSG00000107537 HGNC:8940 PI4K2A gene PI4K2A Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732 30564627;32418222;35880319 False 3 100;0;0 21.433 False ENSG00000155252 ENSG00000155252 HGNC:30031 PIDD1 gene PIDD1 NHS GMS;Expert Review Green;Other;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Intellectual disability;Seizures;Autism;Behavioral abnormality;Psychosis;Pachygyria;Lissencephaly;Abnormality of the corpus callosum 28397838;29302074;33414379;34163010 False 3 100;0;0 21.433 False ENSG00000177595 ENSG00000177595 HGNC:16491 PIGA gene PIGA Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 22305531;25885527;29656098 False 3 86;14;0 21.433 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGA gene PIGA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868;PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 27604308 False 3 0;0;0 21.433 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 80, OMIM:618580 31256876 False 3 67;33;0 21.433 False ENSG00000069943 ENSG00000069943 HGNC:8959 PIGC gene PIGC Expert Review Green;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 Glycosylphosphatidylinositol biosynthesis defect 16, OMIM:617816 27694521;32707268 False 3 50;50;0 21.433 True ENSG00000135845 ENSG00000135845 HGNC:8960 PIGG gene PIGG Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917 26996948;28581210 False 3 67;33;0 21.433 False ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, 618010;epilepsy;febrile seizures 29603516;29573052;33156547 False 3 50;25;25 21.433 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures OMIM:618879 32220290 False 3 100;0;0 21.433 False ENSG00000142892 ENSG00000142892 HGNC:8965 PIGL gene PIGL London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);CHIME syndrome 280000 22444671 False 3 0;0;0 21.433 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGM gene PIGM Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 3 67;0;33 21.433 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGM gene PIGM Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 3 75;0;25 21.433 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGN gene PIGN Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1 614080 26419326;27038415;26394714 False 3 67;33;0 21.433 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGN gene PIGN London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Multiple congenital anomalies-hypotonia-seizures syndrome 1 26419326;21493957 False 3 0;0;0 21.433 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, 614749 22683086;24049131;24417746;28900819;28337824 False 3 67;33;0 21.433 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGO gene PIGO London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Hyperphosphatasia with mental retardation syndrome 2 614749 27604308 False 3 0;0;0 21.433 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 55, OMIM:617599 28334793;31139695;32042915 False 3 100;0;0 21.433 False ENSG00000185808 ENSG00000185808 HGNC:3046 PIGQ gene PIGQ Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome-4, OMIM:618548 32588908;24463883;25558065;31148362 False 3 22;22;56 21.433 False ENSG00000007541 ENSG00000007541 HGNC:14135 PIGS gene PIGS Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 3 100;0;0 21.433 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Literature;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 False 3 67;33;0 21.433 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGT gene PIGT Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 23636107;28327575 False 3 100;0;0 21.433 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis, OMIM:618590 31353022 False 3 100;0;0 21.433 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Hyperphosphatasia with mental retardation syndrome 1 239300;(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 20802478;24129430 False 3 0;0;0 21.433 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 11, 616025;HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 24367057;27626616;30078644 False 3 50;50;0 21.433 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIGW gene PIGW Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Hyperphosphatasia with mental retardation syndrome 5 24367057 False 3 100;0;0 21.433 False ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3R2 gene PIK3R2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387 28502725;23745724;22729224 False 3 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 ENSG00000105647 ENSG00000105647 HGNC:8980 PINK1 gene PINK1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset 605909 27604308;15087508;16207731;18003639;18524835 False 3 0;0;0 21.433 False ENSG00000158828 ENSG00000158828 HGNC:14581 PIP5K1C gene PIP5K1C Expert Review Green;NHS GMS;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 37451268 False 3 100;0;0 21.433 False ENSG00000186111 ENSG00000186111 HGNC:8996 PITRM1 gene PITRM1 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 26697887;29383861;29764912 False 3 100;0;0 21.433 False ENSG00000107959 ENSG00000107959 HGNC:17663 PKD2 gene PKD2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, OMIM:613095;polycystic kidney disease 2, MONDO:0013131;dilated cardiomyopathy, MONDO:0005021 23376035;27081851;29270497;39472908 False 3 100;0;0 21.433 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKP2 gene PKP2 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9 False 3 100;0;0 21.433 False ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 Expert List;Expert Review Green;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 Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9;Arrhythmogenic right ventricular dysplasia 9 (609040) 23500315;27532257 False 3 86;14;0 21.433 False ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9 (609040);Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9 27532257;23500315 False 3 86;14;0 21.433 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLA2G6 gene PLA2G6 Expert Review Green;NHS GMS;Other;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1, OMIM:256600;neurodegeneration with brain iron accumulation 2A, MONDO:0024457;Neurodegeneration with brain iron accumulation 2B, OMIM:610217;neurodegeneration with brain iron accumulation 2B, MONDO:0012444;Parkinson disease 14, autosomal recessive, OMIM:612953;autosomal recessive Parkinson disease 14, MONDO:0013060 30340910;27513994;30772976 False 3 100;0;0 21.433 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLA2G6 gene PLA2G6 Expert list;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 27604308;18570303;16783378;18799783 False 3 0;0;100 21.433 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 617527;Lethal Infantile Epileptic Encephalopathy 28007986;28413018 False 3 67;33;0 21.433 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLCB1 gene PLCB1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Early Infantile Epileptic Encephalopathy, Autosomal Recessive;Epileptic encephalopathy, early infantile, 12 Kurian et al (2010) Brain 133: 2964_2970 False 3 83;17;0 21.433 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLK1 gene PLK1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal developmental and epileptic encephalopathy, MONDO:0100062 33875846 False 3 100;0;0 21.433 False ENSG00000166851 ENSG00000166851 HGNC:9077 PLN gene PLN Expert Review Green;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, 1P (609909);Cardiomyopathy, dilated, 1P;Cardiomyopathy, hypertrophic, 18 (613874) 20186049;27532257 False 3 71;14;14 21.433 False ENSG00000198523 ENSG00000198523 HGNC:9080 PLN gene PLN NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P;Cardiomyopathy, familial hypertrophic, 18, False 3 100;0;0 21.433 False ENSG00000198523 ENSG00000198523 HGNC:9080 PLN gene PLN Expert Review Green;South West GLH;London South GLH;Wessex and West Midlands GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 22820313;28102477;23595706;23568436;24909667;25700660;30763825;28102477 False 3 57;29;14 21.433 True ENSG00000198523 ENSG00000198523 HGNC:9080 PLN gene PLN South West GLH;London South GLH;North West GLH;Expert Review Green;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 Cardiomyopathy, familial hypertrophic, 18, ;Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 27532257;28369730;22820313;30681346 False 3 83;17;0 21.433 False ENSG00000198523 ENSG00000198523 HGNC:9080 PLPBP gene PLPBP Wessex and West Midlands GLH;NHS GMS;Literature;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, 617290 27912044 False 3 67;33;0 21.433 False ENSG00000147471 ENSG00000147471 HGNC:9457 PLXNA1 gene PLXNA1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, MONDO:0100062 28464511;34054129 False 3 100;0;0 21.433 False ENSG00000114554 ENSG00000114554 HGNC:9099 PMM2 gene PMM2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ia 212065 11875054;11058895;11409861 False 3 0;0;0 21.433 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMM2 gene PMM2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 26453362;28954837 False 3 67;33;0 21.433 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal slowly progressive cerebellar ataxia;non-progressive cerebellar ataxia 26657514;25808372 False 3 100;0;0 21.433 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 0;0;0 21.433 False ENSG00000105819 ENSG00000105819 HGNC:9119 PMPCB gene PMPCB NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 100;0;0 21.433 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNKP gene PNKP Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Early infantile epileptic encephalopathy type 10;Ataxia-oculomotor apraxia 4;Microcephaly, seizures, and developmental delay Shen et al (2010) Nature Genet 42(3): 245-251 False 3 83;17;0 21.433 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNP gene PNP Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 27604308;3029074;1384322;9067751;8931706;9737781;11453975 False 3 0;0;0 21.433 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA2 gene PNPLA2 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy MIM#610717 18952067;21544567;25287355;25956450;32269696 False 3 100;0;0 21.433 False ENSG00000177666 ENSG00000177666 HGNC:30802 PNPLA8 gene PNPLA8 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, OMIM:251950;mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0016825 39082157 False 3 100;0;0 21.433 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPLA8 gene PNPLA8 Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, 251950 25473036;25512002;29681094 False 3 100;0;0 21.433 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPO gene PNPO Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, 610090 24658933;28818555;22196487;21704546;25296925;26535729;15772097;24266778;36106796 False 3 29;14;57 21.433 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPO gene PNPO London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) 27604308 False 3 0;0;0 21.433 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Combined oxidative phosphorylation defect type 13, MONDO:0013977 31752325 False 3 100;0;0 21.433 False ENSG00000138035 ENSG00000138035 HGNC:23166 PNPT1 gene PNPT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Deafness, autosomal recessive 70, OMIM:614934;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 21.433 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA depletion syndrome 4B (MNGIE type);Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Naviaux & Nguyen (2004) Ann Neurol 55: 706-712;Goethem et al (2003) Eur J Hum Genet 11: 547-549;Goethen et al (2004) Neurology 63: 1251-1257 False 3 86;14;0 21.433 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG gene POLG London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal dominant, 157640;Progressive external ophthalmoplegia, autosomal recessive, 258450;Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA Depletion Syndrome;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 27604308 False 3 100;0;0 21.433 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services 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 16685652;21555342;27592148;30157269;31778857 False 3 100;0;0 21.433 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLRMT gene POLRMT Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 55, OMIM:619743;combined oxidative phosphorylation deficiency 55, MONDO:0859228 24386581;33602924;40583167 False 3 67;33;0 21.433 False ENSG00000099821 ENSG00000099821 HGNC:9200 POMGNT1 gene POMGNT1 London North GLH;NHS GMS;Expert Review Green 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, 3 253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157;Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Retinitis pigmentosa 76 617123 27421908 False 3 0;0;0 21.433 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT1 gene POMGNT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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, 3 253280 24282183;15236414;17878207 False 3 67;33;0 21.433 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green 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, 8 27066570 False 3 0;0;0 21.433 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094;limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 23519211;24556084;24925318;29910097 False 3 100;0;0 21.433 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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, 1 236670 19299310 False 3 67;33;0 21.433 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT1 gene POMT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308;Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 27604308 False 3 0;0;0 21.433 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158;Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 27421908 False 3 0;0;0 21.433 False ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 27604308;14758361;15793702;15220035;15483095;16470797 False 3 0;0;0 21.433 False ENSG00000127948 ENSG00000127948 HGNC:9208 PPA2 gene PPA2 NHS GMS;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, alcohol-induced, 617223;Sudden cardiac failure, infantile, 617222 27523598 False 3 100;0;0 21.433 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPA2 gene PPA2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, 617222;Sudden cardiac failure, alcohol-induced, 617223 27523598 False 3 100;0;0 21.433 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPA2 gene PPA2 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222;?Sudden cardiac failure, alcohol-induced, OMIM:617223 34400813 False 3 100;0;0 21.433 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPCS gene PPCS NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2C, 618189 False 3 100;0;0 21.433 False ENSG00000127125 ENSG00000127125 HGNC:25686 PPFIBP1 gene PPFIBP1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024 35830857;30214071 False 3 100;0;0 21.433 False ENSG00000110841 ENSG00000110841 HGNC:9249 PPIL1 gene PPIL1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 33220177 False 3 100;0;0 21.433 False ENSG00000137168 ENSG00000137168 HGNC:9260 PPOX gene PPOX Expert Review Green;NHS GMS;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, childhood-onset, MONDO:0957577 8290408;9811936;2004012;35164799;37879139;40114189 False 3 100;0;0 21.433 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPOX gene PPOX NHS GMS;London North GLH;NHS GMS;Expert Review Green 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 Variegate porphyria, OMIM:176200;Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, MONDO:0008297;variegate porphyria, childhood-onset, MONDO:0957577 9540991;9811936;10870850;12859407;25778941;30476629;32247286;33159949;35584894;37879139;38940544;40114189 False 3 67;0;33 21.433 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPP1CB gene PPP1CB NHS GMS;Expert List;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rasopathy with developmental delay, short stature and sparse slow-growing hair;Noonan syndrome-like disorder with loose anagen hair 2, 617506 28211982;27264673;27681385 False 3 100;0;0 21.433 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R13L gene PPP1R13L NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 15661756;28864777;19016676;28069640;25691752 False 3 100;0;0 21.433 False ENSG00000104881 ENSG00000104881 HGNC:18838 PPP1R3F gene PPP1R3F Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 37531237 False 3 100;0;0 21.433 False ENSG00000049769 ENSG00000049769 HGNC:14944 PPP2CA gene PPP2CA Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Abnormality of nervous system morphology;Seizures;Language impairment;Muscular hypotonia;Feeding difficulties;Intellectual disability;Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354;Global developmental delay 29274472;30030003;30595372 False 3 67;33;0 21.433 False ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R2B gene PPP2R2B Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental syndrome 39565297;25356899 False 3 100;0;0 21.433 False ENSG00000156475 ENSG00000156475 HGNC:9305 PPP2R5C gene PPP2R5C Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Houge-Janssens syndrome 4, OMIM:621185 25972378;39696819;39978342 False 3 100;0;0 21.433 False ENSG00000078304 ENSG00000078304 HGNC:9311 PPP3CA gene PPP3CA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 1 617711 28942967;30254215;30455226;29432562 False 3 67;33;0 21.433 False ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 256730 7637805;9425237;9664077 False 3 29;14;57 21.433 False ENSG00000131238 ENSG00000131238 HGNC:9325 PPT1 gene PPT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 27604308 False 3 0;0;0 21.433 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRDM16 gene PRDM16 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1LL, OMIM:615373;Left ventricular noncompaction 8, OMIM:615373;left ventricular noncompaction 8, MONDO:0014152 24387996;24387995;29367541;29447731;30847666;33082984;32183154;33500567;34540771;34350506;34935411;35862303;32083975 False 3 80;20;0 21.433 False ENSG00000142611 ENSG00000142611 HGNC:14000 PRKAG2 gene PRKAG2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, 600858;Glycogen storage disease of heart, lethal congenital, 261740;Wolff-Parkinson-White syndrome, 194200 194200 False 3 100;0;0 21.433 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAG2 gene PRKAG2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN;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 Wolff-Parkinson-White syndrome (194200);syndromic HCM;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Cardiomyopathy, familial hypertrophic 6,;Cardiomyopathy, familial hypertrophic 6 (600858);Glycogen storage disease of heart, lethal congenital (261740) 27532257;28369730;26835038;15673802 False 3 83;17;0 21.433 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAG2 gene PRKAG2 NHS GMS;Expert Review Green;London South GLHSouth West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Cardiomyopathy, familial hypertrophic 6,;syndromic HCM 194200 False 3 50;50;0 21.433 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAG2 gene PRKAG2 Expert Review Green;London South GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome, OMIM:194200 26729852;12015471;26085771 False 3 60;40;0 21.433 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRMT7 gene PRMT7 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Short stature, brachydactyly, intellectual developmental disability, and seizures 617157 26437029;27718516 False 3 67;33;0 21.433 False ENSG00000132600 ENSG00000132600 HGNC:25557 PRODH gene PRODH Expert Review Green;London North GLH;NHS GMS 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 27604308;24816252 False 3 100;0;0 21.433 False ENSG00000100033 ENSG00000100033 HGNC:9453 PRPF8 gene PRPF8 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PRPF8-related developmental disorder (monoallelic);Retinitis pigmentosa 13, OMIM:600059 20811066;23714367;30420816;31696658;35543142 False 3 67;33;0 21.433 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRPS1 gene PRPS1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Arts syndrome 301835;Charcot-Marie-Tooth disease, X-linked recessive, 5 311070;Deafness, X-linked 1 304500;Gout, PRPS-related 300661;Phosphoribosylpyrophosphate synthetase superactivity 300661 27604308 False 3 0;0;0 21.433 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRT2 gene PRRT2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;UKGTN;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Convulsions, familial infantile, with paroxysmal choreoathetosis;Episodic kinesigenic dyskinesia 1;Seizures, benign familial infantile, 2;BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME Wan et al (2011) Brain 134: 3493_3501;Chen et al (2011) Nature Genet 43(12): 1252-1256;Heron et al (2012) Am J Hum Genet 90: 152_160 False 3 83;17;0 21.433 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Atypical Gaucher disease;Metachromatic leukodystrophy due to SAP-b deficiency, 249900;Combined SAP deficiency;Combined SAP deficiency, 611721;Prosaposin deficiency (Sphingolipidoses);Atypical Krabbe disease;Gaucher disease, atypical, 610539;Krabbe disease, atypical, 611722 27604308 False 3 0;0;0 21.433 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAP gene PSAP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined SAP deficiency 611721 8776585;8554069;10682309;2514102;1371116;11309366 False 3 67;33;0 21.433 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Phosphoserine aminotransferase deficiency 610992;Neu-Laxova syndrome 2 616038 27604308;25152457;26960553;17436247 False 3 0;0;0 21.433 False ENSG00000135069 ENSG00000135069 HGNC:19129 PTCD3 gene PTCD3 NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 3 100;0;0 21.433 False ENSG00000132300 ENSG00000132300 HGNC:24717 PTCD3 gene PTCD3 Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 3 100;0;0 21.433 False ENSG00000132300 ENSG00000132300 HGNC:24717 PTEN gene PTEN Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1 158350;Lhermitte-Duclos syndrome;BANNAYAN-RILEY-RUVALCABA SYNDROME 9832032;29033429;29444762 False 3 75;25;0 21.433 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 1;LEOPARD syndrome 1 151100;LEOPARD syndrome 1;Noonan syndrome 1 163950;Noonan syndrome;syndromic HCM;LEOPARD syndrome 17603483;15384080;15240615;16263833;18678287;12529711;17497712;12634870;11704759 False 3 67;33;0 21.433 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN23 gene PTPN23 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Rare severe autosomal-recessive developmental and epileptic encephalopathy;Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 25558065;29899372;29090338 False 3 50;50;0 21.433 False ENSG00000076201 ENSG00000076201 HGNC:14406 PTS gene PTS Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism);Hyperphenylalaninemia, BH4-deficient, A 261640 27604308 False 3 0;0;0 21.433 False ENSG00000150787 ENSG00000150787 HGNC:9689 PTS gene PTS Expert Review Green;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, A, 261640 11916314;16364672;9222757;9450907;8801112 False 3 33;67;0 21.433 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUM1 gene PUM1 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 47 617931 29474920;25768905;30903679;31859446 False 3 100;0;0 21.433 False ENSG00000134644 ENSG00000134644 HGNC:14957 PURA gene PURA Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 31;INTELLECTUAL DISABILITY PMID:25342064;Lalani (2014) False 3 83;17;0 21.433 False ENSG00000185129 ENSG00000185129 HGNC:9701 PUS1 gene PUS1 Expert Review Green;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial myopathy and sideroblastic anemia 1, 600462 27604308 False 3 100;0;0 21.433 False ENSG00000177192 ENSG00000177192 HGNC:15508 PYCR1 gene PYCR1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, 612940;Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism);Cutis laxa, autosomal recessive, type IIIB, 614438 27604308 False 3 50;0;50 21.433 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYGL gene PYGL London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease VI, 232700;hepatomegaly and mild hypoglycaemia;Glycogen Storage Disease Type VI;Glycogen storage disease type VI, Hers (Glycogen storage disorders) 27604308 False 3 0;0;0 21.433 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type V, McArdle (Glycogen storage disorders);McArdle disease 232600 27604308 False 3 100;0;0 21.433 False ENSG00000068976 ENSG00000068976 HGNC:9726 QARS gene QARS Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Zang et al (2014) AJHG 94, 547 558 False 3 83;17;0 21.433 False ENSG00000172053 ENSG00000172053 HGNC:9751 QARS gene QARS Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760 28620870;25471517;25432320;25041233;24656866;32042906 False 3 67;33;0 21.433 False ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C 27604308 False 3 0;0;0 21.433 False ENSG00000151552 ENSG00000151552 HGNC:9752 QRSL1 gene QRSL1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40, OMIM:618835 26741492;29440775;30283131 False 3 100;0;0 21.433 False ENSG00000130348 ENSG00000130348 HGNC:21020 RAB11B gene RAB11B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 29106825 False 3 67;33;0 21.433 False ENSG00000185236 ENSG00000185236 HGNC:9761 RAB18 gene RAB18 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3, 614222 15216543;21473985 False 3 67;33;0 21.433 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB5C gene RAB5C Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder MONDO:0700092, RAB5C-related 37552066 False 3 100;0;0 21.433 False ENSG00000108774 ENSG00000108774 HGNC:9785 RAC3 gene RAC3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, OMIM:618577 29276006;30293988;35851598;35595279 False 3 100;0;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 ENSG00000169750 ENSG00000169750 HGNC:9803 RAF1 gene RAF1 NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 5;Noonan syndrome;Noonan syndrome 5 611553;LEOPARD syndrome 2 611554;syndromic HCM;LEOPARD syndrome;LEOPARD syndrome 2 17603483;17603482 False 3 100;0;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 ENSG00000132155 ENSG00000132155 HGNC:9829 RALA gene RALA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global developmental delay;Intellectual disability;Seizures;Abnormality of nervous system morphology 30500825 False 3 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 ENSG00000006451 ENSG00000006451 HGNC:9839 RALGAPA1 gene RALGAPA1 Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal .Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 618797 32004447 False 3 50;50;0 21.433 False ENSG00000174373 ENSG00000174373 HGNC:17770 RARS gene RARS Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9, OMIM:616140 31814314;28905880;24777941 False 3 100;0;0 21.433 False ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523 25809939;29881806;17847012;20635367 False 3 67;33;0 21.433 False ENSG00000146282 ENSG00000146282 HGNC:21406 RARS2 gene RARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBCK1 gene RBCK1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23889995;23104095 False 3 100;0;0 21.433 False ENSG00000125826 ENSG00000125826 HGNC:15864 RBM20 gene RBM20 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD False 3 100;0;0 21.433 False ENSG00000203867 ENSG00000203867 HGNC:27424 RBM20 gene RBM20 Expert Review Green;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, 1DD;Cardiomyopathy, dilated, 1DD (613172) 20186049;27532257 False 3 83;17;0 21.433 False ENSG00000203867 ENSG00000203867 HGNC:27424 RBP4 gene RBP4 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinol binding protein deficiency (Other disorders of vitamins and cofactors);Posterior segment abnormalities 27604308 False 3 0;0;0 21.433 False ENSG00000138207 ENSG00000138207 HGNC:9922 RELN gene RELN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lissencephaly 2 (Norman-Roberts type), OMIM:257320;Norman-Roberts syndrome, MONDO:0009760;{Epilepsy, familial temporal lobe, 7}, OMIM:616436;familial temporal lobe epilepsy 7, MONDO:0014639 7682675;10973257;17431900;26046367;27000652;35769015 False 3 67;33;0 21.433 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFT1 gene RFT1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, 612015 19701946;19856127;23111317 False 3 67;33;0 21.433 False ENSG00000163933 ENSG00000163933 HGNC:30220 RFT1 gene RFT1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015;Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 21.433 False ENSG00000163933 ENSG00000163933 HGNC:30220 RHEB gene RHEB Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and cortical dysplasia 29051493;30414531;33434304;37015817 False 3 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 ENSG00000106615 ENSG00000106615 HGNC:10011 RHOBTB2 gene RHOBTB2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 64, OMIM:618004;developmental and epileptic encephalopathy, 64, MONDO:0033373 29276004;29768694;26740508;37165955 False 3 75;25;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 ENSG00000008853 ENSG00000008853 HGNC:18756 RIT1 gene RIT1 NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8;Noonan syndrome type 8;Noonan syndrome 8 615355 25124994;23791108;24939608 False 3 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 ENSG00000143622 ENSG00000143622 HGNC:10023 RMND1 gene RMND1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, 614922 23022098;25604853;25058219 False 3 67;33;0 21.433 False ENSG00000155906 ENSG00000155906 HGNC:21176 RMND1 gene RMND1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 11, 614922;Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect 27604308 False 3 100;0;0 21.433 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193. False 3 100;0;0 21.433 False ENSG00000171865 ENSG00000171865 HGNC:18466 RNASEH2A gene RNASEH2A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 17846997;29239743;25604658 False 3 67;33;0 21.433 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2A gene RNASEH2A Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Intracerebral calcification disorders;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4;Inherited white matter disorders 27604308 False 3 100;0;0 21.433 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 25604658;16845400;17846997;29239743 False 3 67;33;0 21.433 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2B gene RNASEH2B Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 27604308 False 3 100;0;0 21.433 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3;Intracerebral calcification disorders;Inherited white matter disorders 27604308 False 3 100;0;0 21.433 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASEH2C gene RNASEH2C Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 29239743;17846997;25604658;29150899;20131292 False 3 67;33;0 21.433 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly 612951 19525954 False 3 67;33;0 21.433 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF113A gene RNF113A Expert Review Green;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) Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 25612912;31880405;31793730;29133357;30506991;15256591;24026126;23555887 False 3 100;0;0 21.433 False ENSG00000125352 ENSG00000125352 HGNC:12974 RNF13 gene RNF13 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 73, OMIM:618379 30595371 False 3 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 ENSG00000082996 ENSG00000082996 HGNC:10057 RNU2-2P gene RNU2-2P Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 119, OMIM:621304 40210679;40442284 False 3 50;0;50 21.433 False ENSG00000222328 ENSG00000222328 HGNC:10152 RNU4-2 gene RNU4-2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ReNU syndrome, OMIM:620851 38821540;38645094 False 3 100;0;0 21.433 False ENSG00000202538 ENSG00000202538 HGNC:10193 RNU5B-1 gene RNU5B-1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302;RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, MONDO:1060179 40379786;40442284 False 3 100;0;0 21.433 False ENSG00000200156 ENSG00000200156 HGNC:10212 ROGDI gene ROGDI Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome 226750 23086778;22424600 False 3 67;33;0 21.433 False ENSG00000067836 ENSG00000067836 HGNC:29478 RORA gene RORA Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060" 29656859 False 3 50;50;0 21.433 False ENSG00000069667 ENSG00000069667 HGNC:10258 RORB gene RORB Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 27352968;24355400 False 3 67;33;0 21.433 False ENSG00000198963 ENSG00000198963 HGNC:10259 RPIA gene RPIA London North GLH;NHS GMS;Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism);Ribose 5-phosphate isomerase deficiency, OMIM:608611 27604308;30088433;14988808;28801340 False 3 0;0;100 21.433 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPL10 gene RPL10 Expert Review Green 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, 35 25316788 False 3 100;0;0 21.433 False ENSG00000147403 ENSG00000147403 HGNC:10298 RPL3L gene RPL3L Expert Review Green;NHS GMS;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 3 100;0;0 21.433 False ENSG00000140986 ENSG00000140986 HGNC:10351 RRAGC gene RRAGC Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long-Olsen syndrome, OMIM:620609 27234373;37057673 False 3 100;0;0 21.433 False ENSG00000116954 ENSG00000116954 HGNC:19902 RRAGD gene RRAGD NHS GMS;Expert Review Green;Literature 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 3 100;0;0 21.433 False Other ENSG00000025039 ENSG00000025039 HGNC:19903 RRM2B gene RRM2B London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077;Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075;Mitochondrial DNA Depletion Syndrome (recessive);Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism);Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant);Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 27604308 False 3 100;0;0 21.433 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 29181510;26593267 False 3 67;33;0 21.433 False ENSG00000130347 ENSG00000130347 HGNC:18647 RTN4IP1 gene RTN4IP1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 28638143;26593267;29181510 False 3 100;0;0 21.433 False ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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, short stature, and polymicrogyria with seizures 614833 26608784;22939636;29356416;29967526 False 3 50;50;0 21.433 False ENSG00000176225 ENSG00000176225 HGNC:18654 RYR2 gene RYR2 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772 27761157;19121813;16391617 False 3 86;14;0 21.433 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2, 600996;Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy http://www.ncbi.nlm.nih.gov/books/NBK1131/ False 3 100;0;0 21.433 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 Expert Review Green;Expert List;South West GLH;London South GLH;Wessex and West Midlands GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2;Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) 20301310;19926015;17875969;25163546;32748945 False 3 44;44;11 21.433 False ENSG00000198626 ENSG00000198626 HGNC:10484 SACS gene SACS Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type;Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) 12873855 (18 patients from 4 families);15985586 (two siblings);14718706 (two sisters);16606928 (case study);10655055 (17 families with 24 patients);14718708 (two family members) False 3 100;0;0 21.433 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952;seizures 29239743;25604658;19525956;30275001 False 3 67;33;0 21.433 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAMHD1 gene SAMHD1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5;Aicardi-Goutieres syndrome-5 (AGS5);Aicardi-Goutieres syndrome 5, 612952 PMID: 19525956;25604658 False 3 50;0;50 21.433 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Anderson disease (Inherited hypolipidaemias);CHYLOMICRON RETENTION DISEASE 246700 27604308 False 3 100;0;0 21.433 False ENSG00000152700 ENSG00000152700 HGNC:10535 SARS gene SARS Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709 28236339;34570399;35790048;36041817 False 3 50;50;0 21.433 False ENSG00000031698 ENSG00000031698 HGNC:10537 SARS2 gene SARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 27604308 False 3 100;0;0 21.433 False ENSG00000104835 ENSG00000104835 HGNC:17697 SATB1 gene SATB1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder 33513338 False 3 100;0;0 21.433 False ENSG00000182568 ENSG00000182568 HGNC:10541 SATB2 gene SATB2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glass syndrome, OMIM:612313 32446642 False 3 100;0;0 21.433 False ENSG00000119042 ENSG00000119042 HGNC:21637 SC5D gene SC5D Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, 607330;Intellectual disability;Cataracts 27604308;12189593;12812989;30097991 False 3 0;0;0 21.433 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCAF4 gene SCAF4 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fliedner-Zweier syndrome, OMIM:620511 32730804 False 3 100;0;0 21.433 False ENSG00000156304 ENSG00000156304 HGNC:19304 SCAMP5 gene SCAMP5 Expert Review Green;NHS GMS;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;Abnormality of nervous system morphology;Behavioral abnormality 31439720;20071347;32020363;33390987 False 3 75;25;0 21.433 False Other ENSG00000198794 ENSG00000198794 HGNC:30386 SCARB2 gene SCARB2 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure 254900 18308289;21670406;18424452;29605618 False 3 17;17;67 21.433 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCN1A gene SCN1A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 2 604403;Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208;Febrile seizures, familial, 3A 604403;Migraine, familial hemiplegic, 3 609634 11359211;10742094 False 3 86;14;0 21.433 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 52, OMIM:617350 (AR);Generalized epilepsy with febrile seizures plus, type 1, OMIM:604233 (AD) 12011299;16205844;9697698;31709768;33901312;36291443 False 3 83;17;0 21.433 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 11 613721;Seizures, benign familial infantile, 3 607745 12243921;15028761 False 3 83;17;0 21.433 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 4 617935;Epileptic encephalopathy, early infantile, 62 617938 24157691;29466837;28235671 False 3 67;33;0 21.433 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN5A gene SCN5A NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy;Long QT syndrome;Brugada syndrome;Cardiomyopathy, dilated, 1E;Arrhythmogenic right ventricular cardiomyopathy 24317018;26888179;35701104 False 3 100;0;0 21.433 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 1, 601144;Brugada syndrome 1, MONDO:0011001 20031634;27761167;29959160;https://search.clinicalgenome.org/kb/gene-validity/10165 False 3 100;0;0 21.433 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular fibrillation, familial, 1 (603829);Brugada syndrome 1 (601144);Heart block, nonprogressive (113900);Heart block, progressive, type IA (113900);{Sudden infant death syndrome, susceptibility to} (272120);Sick sinus syndrome 1 (608567);Long QT syndrome-3;Long QT syndrome-3 (603830);Cardiomyopathy, dilated, 1E (601154);Atrial fibrillation, familial, 10 (614022) 19716085;29798782;26888179;7889574;29728395 False 3 86;14;0 21.433 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;South West GLH;London South GLH;Wessex and West Midlands GLH;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart block, progressive, OMIM:113900;Heart block, progressive, type IA, OMIM:113900 11804990;16643399;15466643;15372490 False 3 71;29;0 21.433 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;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, imprinted status unknown Cardiomyopathy, dilated, 1E 20186049;27532257;35701104 False 3 83;17;0 21.433 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN8A gene SCN8A Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 13, OMIM:614558;Seizures, benign familial infantile, 5, OMIM:617080;?Myoclonus, familial, 2, OMIM:618364 31625145;24194747;22365152;16236810 False 3 88;12;0 21.433 False Other ENSG00000196876 ENSG00000196876 HGNC:10596 SCO1 gene SCO1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 11013136;19295170;31352446;23878101 False 3 100;0;0 21.433 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO1 gene SCO1 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 False 3 100;0;0 21.433 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 South West GLH;Expert Review Green;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);syndromic HCM;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908;Mitochondrial Respiratory Chain Complex IV Deficiency 27604308 False 3 75;25;0 21.433 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCO2 gene SCO2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency;Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908 27604308 False 3 100;0;0 21.433 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 21.433 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Cardiomyopathy, dilated, 1GG, OMIM:613642 10976639;27683074;33471299 False 3 100;0;0 21.433 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;NHS GMS;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial complex II deficiency, 252011;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex II Deficiency;Isolated complex II deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 PMID: 26925370;22972948 False 3 100;0;0 21.433 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green;NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Diseases;Isolated complex II deficiency 27604308 False 3 100;0;0 21.433 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 22208203;35163229 False 3 0;0;0 21.433 False ENSG00000101310 ENSG00000101310 HGNC:10702 SEMA6B gene SEMA6B Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, progressive myoclonic, 11 OMIM:618876 32169168;35604360 False 3 50;50;0 21.433 False Other ENSG00000167680 ENSG00000167680 HGNC:10739 SEPSECS gene SEPSECS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D 613811 20920667;25044680;26115735;28133863 False 3 67;33;0 21.433 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739;Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 21.433 False ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINI1 gene SERPINI1 Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalopathy, familial, with neuroserpin inclusion bodies 604218 28631894;25401298;12103288 False 3 100;0;0 21.433 False ENSG00000163536 ENSG00000163536 HGNC:8943 SETBP1 gene SETBP1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078;Schinzel-Giedion midface retraction syndrome, OMIM: 269150;Schinzel-Giedion syndrome, MONDO:0010010 20436468;21037274;22473152;23020937;25217958;25356899;25028416;25082129;25663181;26096993;26188272;28346496;29463886;32445275;32460883 False 3 75;25;0 21.433 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, early-onset, with or without developmental delay, 618832 31197650 False 3 100;0;0 21.433 False ENSG00000099381 ENSG00000099381 HGNC:29010 SETD1B gene SETD1B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with seizures and language delay, OMIM:619000;Intellectual developmental disorder with seizures and language delay, MONDO:0033559 20648245;27106595;25428890;22369279;29322246;31440728;31685013;32546566 False 3 50;50;0 21.433 False ENSG00000139718 ENSG00000139718 HGNC:29187 SETD5 gene SETD5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 23, 615761 25138099;24680889;29484850 False 3 71;29;0 21.433 False ENSG00000168137 ENSG00000168137 HGNC:25566 SETX gene SETX Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002;Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 27604308 False 3 100;0;0 21.433 False ENSG00000107290 ENSG00000107290 HGNC:445 SFXN4 gene SFXN4 Expert Review Green;Expert Review Green;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 18, 615578 24119684 False 3 100;0;0 21.433 False ENSG00000183605 ENSG00000183605 HGNC:16088 SGCG gene SGCG Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700;autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677 10942431;11053682;14991064;24464767;39472908 False 3 100;0;0 21.433 False ENSG00000102683 ENSG00000102683 HGNC:10809 SGSH gene SGSH Expert Review Green;Other;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900;seizures 21061399;30593151 False 3 100;0;0 21.433 False ENSG00000181523 ENSG00000181523 HGNC:10818 SGSH gene SGSH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type IIIA;MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 3A 27604308 False 3 0;0;0 21.433 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHMT2 gene SHMT2 Expert Review Green;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 3 100;0;0 21.433 False ENSG00000182199 ENSG00000182199 HGNC:10852 SHOC2 gene SHOC2 NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan-like syndrome with loose anagen hair;syndromic HCM 19684605;22528146;23918763 False 3 67;0;33 21.433 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108061 ENSG00000108061 HGNC:15454 SHQ1 gene SHQ1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Dystonia 35, childhood-onset, OMIM:619921;dystonia 35, childhood-onset, MONDO:0030958;Neurodevelopmental disorder with dystonia and seizures, OMIM:619922;neurodevelopmental disorder with dystonia and seizures, MONDO:0859258 34542157;29178645;36810590;36847845;36416405;37475611;36189577 False 3 67;33;0 21.433 False ENSG00000144736 ENSG00000144736 HGNC:25543 SI gene SI London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900;Disaccharide intolerance 1 (Other carbohydrate disorders) 27604308;14724820;8648527;16329100 False 3 100;0;0 21.433 False ENSG00000090402 ENSG00000090402 HGNC:10856 SIK1 gene SIK1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NEONATAL EPILEPSY SPECTRUM;Epileptic encephalopathy, early infantile, 30 PMID: 25839329 False 3 83;17;0 21.433 False ENSG00000142178 ENSG00000142178 HGNC:11142 SKIV2L gene SKIV2L Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 2 (Other metabolic disorders) 27604308 False 3 100;0;0 21.433 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A3 gene SLC12A3 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 22009145;27604308;26770037;30999883 False 3 100;0;0 21.433 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC12A5 gene SLC12A5 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review 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 of infancy with migrating focal seizures (EIMFS);Epileptic encephalopathy, early infantile, 34, 616645;{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 26333769;24668262;27436767 False 3 86;14;0 21.433 True ENSG00000124140 ENSG00000124140 HGNC:13818 SLC13A3 gene SLC13A3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 30635937;34966709;35527102;37290914;38235040;33340416 False 3 100;0;0 21.433 False ENSG00000158296 ENSG00000158296 HGNC:14430 SLC13A3 gene SLC13A3 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 30635937;34966709;35527102;37290914;38235040 False 3 100;0;0 21.433 False ENSG00000158296 ENSG00000158296 HGNC:14430 SLC13A5 gene SLC13A5 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 25 Thevenon et al (2014) AJHG 95, 113 120 False 3 83;17;0 21.433 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A1 gene SLC16A1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocyte lactate transporter defect, OMIM:245340;Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021;Monocarboxylate transporter 1 deficiency, OMIM:616095 26608392;17701893 False 3 0;0;0 21.433 False ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN 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) Allan-Herndon-Dudley syndrome, OMIM:300523 27212794;15980113;18398436 False 3 86;14;0 21.433 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Salla disease, OMIM:604369;Sialic acid storage disorder, infantile, OMIM:269920 False 3 0;0;0 21.433 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A2 gene SLC18A2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism);Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) 27604308;26497564;23363473 False 3 100;0;0 21.433 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A2 gene SLC19A2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 27604308 False 3 100;0;0 21.433 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism);Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 27604308 False 3 100;0;0 21.433 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 41, OMIM:617105;developmental and epileptic encephalopathy, 41, MONDO:0014916 27476654;28777935;23934111;9180080;28915517;27445142 False 3 75;25;0 21.433 True ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A4 gene SLC1A4 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 29989513;27193218;26138499;26041762;25930971 False 3 67;33;0 21.433 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC22A5 gene SLC22A5 NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427;27604308;24816252 False 3 100;0;0 21.433 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC22A5 gene SLC22A5 NHS GMS;South West GLH;MetBioNet;Expert Review Green;MetBioNet;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 7432384;24816252;27604308 False 3 100;0;0 21.433 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria False 3 67;33;0 21.433 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A1 gene SLC25A1 Expert Review Green;London North GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria, 615182;Disorders of mitochondrial protein transport;Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;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 Epileptic encephalopathy, early infantile, 39 612949 24515575;19641205;27290639;26633542;31403263 False 3 60;40;0 21.433 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A12 gene SLC25A12 Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Inherited white matter disorders;Epileptic encephalopathy, early infantile, 39 612949;Hypomyelination, global cerebral, 612949;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 19641205;27290639;24515575 False 3 100;0;0 21.433 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A13 gene SLC25A13 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II 603471;Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814;Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 100;0;0 21.433 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970;HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 21.433 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710;Microcephaly, Amish type (Disorders of thiamine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 NHS GMS;South West GLH;MetBioNet;Expert Review Green;MetBioNet;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia;Carnitine-acylcarnitine translocase deficiency 212138;Carnitine acylcarnitines translocase deficiency CAT;HCM, DCM;Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) 27604308 False 3 67;33;0 21.433 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A20 gene SLC25A20 NHS GMS;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency 212138;Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) 27604308 False 3 0;0;100 21.433 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 50;0;50 21.433 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A22 gene SLC25A22 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3 Molinari et al (2005) Am J Hum Genet 76: 334_339 False 3 83;17;0 21.433 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A24 gene SLC25A24 Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome, OMIM:612289;Fontaine progeroid syndrome, MONDO:0012853 29903433;29100093;29100094 False 3 100;0;0 21.433 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A26 gene SLC25A26 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28;intra-mitochondrial methylation deficiency.;Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness 26522469 False 3 100;0;0 21.433 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, 610773;Mitochondrial phosphate carrier deficiency 610773;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A32 gene SLC25A32 Expert list;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Exercise intolerance, riboflavin-responsive 26933868;28443623 False 3 0;0;0 21.433 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A36 gene SLC25A36 Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211 34576089;34971397;36695547 False 3 100;0;0 21.433 False ENSG00000114120 ENSG00000114120 HGNC:25554 SLC25A38 gene SLC25A38 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal severe, non-syndromic, microcytic/hypochromic sideroblastic anemia;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));nonsyndromic autosomal recessive congenital sideroblastic anemia;congenital sideroblastic anemias PMID: 26821380 (potential novel treatment using glycine and folate).;PMID: 19731322 (12 probands with mutations in this gene);PMID: 25985931 (mutations detected in 3 patients in this gene);PMID: 21393332 (11 patients);PMID: 19412178 False 3 100;0;0 21.433 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive External Ophthalmoplegia with Mitochondrial DNADeletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Disorders of mitochondrial protein transport;Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283;Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 27604308 False 3 100;0;0 21.433 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A4 gene SLC25A4 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418;Disorders of mitochondrial protein transport;Hypertrophic cardiomyopathy;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283;Disorders of mitochondrial DNA maintenance and integrity 27604308 False 3 50;50;0 21.433 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416;mitochondrial myopathy 26541337;29923093;29327420 False 3 100;0;0 21.433 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal optic atrophy spectrum disorder 26168012 False 3 100;0;0 21.433 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Cataracts;Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport);Hereditary ataxia;Epileptic encephalopathy;Familial Genetic Generalised Epilepsies;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777;GLUT1 deficiency syndrome 2, childhood onset, 612126 27604308 False 3 0;0;0 21.433 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A1 gene SLC2A1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Dystonia 9 601042 AD;GLUT1 deficiency syndrome 1, infantile onset, severe 606777 AD, AR;GLUT1 deficiency syndrome 2, childhood onset 612126 AD;Stomatin-deficient cryohydrocytosis with neurologic defects 608885 AD;{Epilepsy, idiopathic generalized, susceptibility to, 12} 614847" 22282645;20574033;21832227 False 3 83;17;0 21.433 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A2 gene SLC2A2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type XI (Glycogen storage disorders);Glycogen Storage Disorders- Liver;Glucose transporter 2 deficiency (Disorders of glucose transport);Fanconi-Bickel Syndrome;renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. 27604308 False 3 0;0;0 21.433 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC30A10 gene SLC30A10 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 27604308 False 3 0;0;0 21.433 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC32A1 gene SLC32A1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 114, OMIM:620774;Generalized epilepsy with febrile seizures plus, type 12, OMIM:620755 34038384;36073542 False 3 100;0;0 21.433 False ENSG00000101438 ENSG00000101438 HGNC:11018 SLC35A1 gene SLC35A1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf 603585;Congenital disorder of glycosylation, type Iif, 603585;CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308;23873973;28856833;15576474;30115659 False 3 0;0;100 21.433 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert Review Green;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) Intellectual disability;Congenital disorder of glycosylation, type IIm 300896;SLC35A2-CDG (other congenital disorders of glycosylation) 27743886;25778940;23561849 False 3 100;0;0 21.433 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35A2 gene SLC35A2 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other 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 IIm, 300896 (includes Epileptic encephalopathy);Epileptic encephalopathy, early infantile, 22 (EIEE22);early-onset epileptic encephalopathy;epilepsy 24115232;27743886;30746764;30584598;29679388;23561849;30746764 False 3 75;25;0 21.433 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type IIc 266265 12476046;11326280 False 3 0;0;0 21.433 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) 19508970;17952091 False 3 0;0;0 21.433 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240;Congenital disorder of glycosylation, type IIw, OMIM:619525 27604308 False 3 0;0;0 21.433 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC38A3 gene SLC38A3 NHS GMS;Expert Review Green;Other;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 102, 619881 34605855 False 3 100;0;0 21.433 False ENSG00000188338 ENSG00000188338 HGNC:18044 SLC39A14 gene SLC39A14 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 27231142 False 3 100;0;0 21.433 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica (Disorder of zinc metabolism);Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn, OMIM:616721;SLC39A8-CDG, MONDO:0014746 26637978;26637979 False 3 100;0;0 21.433 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC39A8 gene SLC39A8 Expert list;London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn 616721;Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) 26637978;26637979 False 3 50;0;50 21.433 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC3A1 gene SLC3A1 Expert Review Green;London North GLH;NHS GMS 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 Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Cystinuria (Disorders of amino acid transport);Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 3 100;0;0 21.433 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC40A1 gene SLC40A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4 606069 (Disorder of iron metabolism);Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) 27604308;11518736;11431687;10471458 False 3 100;0;0 21.433 False ENSG00000138449 ENSG00000138449 HGNC:10909 SLC46A1 gene SLC46A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050;Hereditary folate malabsorption (Disorders of folate metabolism and transport) 27604308 False 3 0;0;0 21.433 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A10 gene SLC4A10 Expert Review Green;NHS GMS;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 37459438;38054405;31130284 False 3 100;0;0 21.433 False ENSG00000144290 ENSG00000144290 HGNC:13811 SLC52A2 gene SLC52A2 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 614707 False 3 0;0;100 21.433 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, OMIM:211530;Brown-Vialetto-van Laere syndrome 1, MONDO:0024537;?Fazio-Londe disease, OMIM:211500;riboflavin transporter deficiency, MONDO:0008891 22718020;29053833;34384672;38469093;40539137 False 3 50;0;50 21.433 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption (Disorders of glucose transport);Glucose/galactose malabsorption 606824 (Disorders of glucose transport) 27604308 False 3 100;0;0 21.433 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A6 gene SLC5A6 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219 False 3 100;0;0 21.433 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A1 gene SLC6A1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy, OMIM:616421 25865495;29315614;32469098;34006619;34028503 False 3 83;17;0 21.433 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A19 gene SLC6A19 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, OMIM:234500 27604308;20399395;19335424;19033659 False 3 100;0;0 21.433 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A3 gene SLC6A3 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism);Parkinson Disease and Complex Parkinsonism 27604308 False 3 100;0;0 21.433 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A8 gene SLC6A8 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC6A8 gene SLC6A8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1 300352 11898126;12210795;17101918;17603797 False 3 29;14;57 21.433 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A7 gene SLC7A7 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance (Disorders of amino acid transport);Lysinuric protein intolerance 222700 27604308 False 3 0;0;0 21.433 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Green;London North GLH;NHS GMS 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 Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Cystinuria (Disorders of amino acid transport) 27604308;24816252;12239244 False 3 100;0;0 21.433 False ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A6 gene SLC9A6 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;UKGTN 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, X-linked syndromic, Christianson type, 300243 18342287 False 3 83;17;0 21.433 False ENSG00000198689 ENSG00000198689 HGNC:11079 SMARCA2 gene SMARCA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nicolaides-Baraitser syndrome 601358 22366787 False 3 67;33;0 21.433 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCC2 gene SMARCC2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin-Siris syndrome 8, 618362;Global developmental delay;Intellectual disability;neurodevelopmental delay and growth retardation;prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features 27392482;30580808 False 3 33;67;0 21.433 False ENSG00000139613 ENSG00000139613 HGNC:11105 SMC1A gene SMC1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 16604071;17273969;31185419;31098032;28677859;28548707;28166369;26752331;26386245;26358754 False 3 50;50;0 21.433 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMPD1 gene SMPD1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, 257200;Niemann-Pick disease, type B, 607616 27604308 False 3 0;0;0 21.433 False ENSG00000166311 ENSG00000166311 HGNC:11120 SMS gene SMS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert 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, Snyder-Robinson type 309583 30237987;18550699;23897707 False 3 29;14;57 21.433 False ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP25 gene SNAP25 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Myasthenic syndrome, congenital 18, 616330;?Myasthenic syndrome, congenital, 18 29100083;28135719;25003006;29491473;25381298;30914295 False 3 67;33;0 21.433 False ENSG00000132639 ENSG00000132639 HGNC:11132 SNIP1 gene SNIP1 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501;psychomotor retardation, epilepsy, and craniofacial dysmorphism MONDO:0013787 22279524;34570759;31589614 False 3 17;67;17 21.433 False ENSG00000163877 ENSG00000163877 HGNC:30587 SNORD118 gene SNORD118 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts 614561 27571260 False 3 67;33;0 21.433 False ENSG00000200463 ENSG00000200463 HGNC:32952 SOS1 gene SOS1 NHS GMS;Expert List;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4 610733;syndromic HCM;Noonan syndrome;Noonan syndrome 4 19438935;17143285;17143282;17586837 False 3 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 ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 NHS GMS;Expert List;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559;Noonan syndrome 9 26173643;25795793 False 3 100;0;0 21.433 False Other - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SPATA5 gene SPATA5 Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 27246907;29343804;26299366;28293831 False 3 100;0;0 21.433 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5 gene SPATA5 Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 27246907;29343804;26299366;28293831;30009132;36849973 False 3 100;0;0 21.433 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 34626583 False 3 100;0;0 21.433 False ENSG00000171763 ENSG00000171763 HGNC:28762 SPEG gene SPEG Expert Review Green;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 3 100;0;0 21.433 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPG7 gene SPG7 London North GLH;NHS GMS;Expert Review Green 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 Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 27604308;9635427;16534102;17646629;18200586;20186691;22571692;30252181;33045469;39978794 False 3 100;0;0 21.433 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPOUT1 gene SPOUT1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154 39962046 False 3 100;0;0 21.433 False ENSG00000198917 ENSG00000198917 HGNC:26933 SPR gene SPR Expert Review Green;London North GLH;NHS GMS 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;Sepiapterin reductase deficiency (Disorders of pterin metabolism) 27604308;22018912;22522443;22018912;24588500;28189489;21431957;16650784 False 3 100;0;0 21.433 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPRED2 gene SPRED2 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal developmental delay;intellectual disability;cardiac defects;short stature;skeletal anomalies;a typical facial gestalt 34626534 False 3 100;0;0 21.433 False ENSG00000198369 ENSG00000198369 HGNC:17722 SPTAN1 gene SPTAN1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, OMIM:613477;Developmental delay with or without epilepsy, OMIM:620540;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 20493457;22258530;36331550 False 3 83;17;0 21.433 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN1 gene SPTBN1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant neurodevelopmental syndrome 34211179 False 3 100;0;0 21.433 False ENSG00000115306 ENSG00000115306 HGNC:11275 SPTLC1 gene SPTLC1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308;21618344;20097765;30420926 False 3 100;0;0 21.433 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308;20920666 False 3 100;0;0 21.433 False ENSG00000100596 ENSG00000100596 HGNC:11278 SQOR gene SQOR Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sulfide:quinone oxidoreductase deficiency, OMIM:619221 32160317 False 3 67;33;0 21.433 False ENSG00000137767 ENSG00000137767 HGNC:20390 SRD5A3 gene SRD5A3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal SRD5A3-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Iq 612379 27604308 False 3 0;0;0 21.433 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSBP1 gene SSBP1 NHS GMS;Expert list;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 31298765;31550240;31550237;30412255;31479473;34905022 False 3 0;0;0 21.433 False ENSG00000106028 ENSG00000106028 HGNC:11317 SSR4 gene SSR4 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy 300934 26264460 False 3 0;0;0 21.433 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003 27604308;21907012;23252400;31584066;17120046;25529582;30089820 False 3 22;33;44 21.433 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL3 gene ST3GAL3 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003;Intellectual developmental disorder, autosomal recessive 12, OMIM:611090;intellectual disability, autosomal recessive 12, MONDO:0012612 27604308;21907012;23252400;31584066;17120046;25529582 False 3 100;0;0 21.433 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056 27232954;24026681 False 3 67;33;0 21.433 False ENSG00000115525 ENSG00000115525 HGNC:10872 ST3GAL5 gene ST3GAL5 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency (Disorders of complex lipid synthesis) 24026681;15502825 False 3 0;0;0 21.433 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAG1 gene STAG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 47 617635 28119487 False 3 67;33;0 21.433 False ENSG00000118007 ENSG00000118007 HGNC:11354 STAMBP gene STAMBP Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, OMIM:614261 23542699;29907875;27531570;25692795 False 3 67;33;0 21.433 False ENSG00000124356 ENSG00000124356 HGNC:16950 STRADA gene STRADA Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 27170158;17522105;28688840;20424326 False 3 67;33;0 21.433 False ENSG00000266173 ENSG00000266173 HGNC:30172 STS gene STS Expert Review Green;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) X-linked ichthyosis (Other disorders in the metabolism of sterols);Autosomal recessive congenital ichthyosis 27604308;1539590;29672931 False 3 100;0;0 21.433 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3A gene STT3A Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714;Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 23842455;28424003;30701557;34653363 False 3 100;0;0 21.433 False ENSG00000134910 ENSG00000134910 HGNC:6172 STX1B gene STX1B Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Generalized epilepsy with febrile seizures plus, type 9, 616172 25362483 False 3 83;17;0 21.433 False ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 4, OMIM:612164 35190816;31855252;18469812;19557857 False 3 43;14;43 21.433 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLA2 gene SUCLA2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity 27604308 False 3 100;0;0 21.433 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLA2 gene SUCLA2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073 17301081;17287286;15877282;23759946;26475597 False 3 67;33;0 21.433 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 27604308 False 3 100;0;0 21.433 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency 27604308 False 3 0;0;0 21.433 False ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency 27604308;27289259;12112661 False 3 0;0;0 21.433 False ENSG00000139531 ENSG00000139531 HGNC:11460 SUOX gene SUOX Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency False 3 67;33;0 21.433 False ENSG00000139531 ENSG00000139531 HGNC:11460 SUPV3L1 gene SUPV3L1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome 35023579;39596606 False 3 100;0;0 21.433 False ENSG00000156502 ENSG00000156502 HGNC:11471 SURF1 gene SURF1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, due to COX IV deficiency, 256000 24462369;23829769;28273704;29481804 False 3 67;33;0 21.433 False ENSG00000148290 ENSG00000148290 HGNC:11474 SURF1 gene SURF1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Complex IV deficiency;Leigh Syndrome;Isolated complex IV deficiency;Leigh syndrome, due to COX deficiency, 256000;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 21.433 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYN1 gene SYN1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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) Epilepsy, X-linked, with variable learning disabilities and behavior disorders 300491 23406870;14985377;21441247 False 3 50;50;0 21.433 False ENSG00000008056 ENSG00000008056 HGNC:11494 SYNGAP1 gene SYNGAP1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert;Expert Review Green;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 5, OMIM:612621 Hamden et al (2009) N Engl J Med 360: 599-605 False 3 83;17;0 21.433 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Other;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 53, 617389 27435091 False 3 50;50;0 21.433 False ENSG00000159082 ENSG00000159082 HGNC:11503 SZT2 gene SZT2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Radboud University Medical Center, Nijmegen;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 18, False 3 17;17;67 21.433 False ENSG00000198198 ENSG00000198198 HGNC:29040 TAB2 gene TAB2 Expert Review Green;NHS GMS;London South GLH 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 3 50;25;25 21.433 False ENSG00000055208 ENSG00000055208 HGNC:17075 TACO1 gene TACO1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Mitochondrial Respiratory Chain Complex IV Deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 21.433 False ENSG00000136463 ENSG00000136463 HGNC:24316 TAF1A gene TAF1A Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Paediatric dilated cardiomyopathy 27878435;37501913;28472305;29367541 False 3 67;0;33 21.433 False ENSG00000143498 ENSG00000143498 HGNC:11532 TAF8 gene TAF8 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972 29648665;35759269 False 3 50;50;0 21.433 False ENSG00000137413 ENSG00000137413 HGNC:17300 TALDO1 gene TALDO1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency 15877206;26238251;21119539;11283793;17095351;27604308;18331807;23315216 False 3 0;0;0 21.433 False ENSG00000177156 ENSG00000177156 HGNC:11559 TAMM41 gene TAMM41 Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 56, OMIM:620139 35321494 False 3 100;0;0 21.433 False ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 29369572;30245509;26805782;26805781 False 3 67;33;0 21.433 False ENSG00000183597 ENSG00000183597 HGNC:25439 TANGO2 gene TANGO2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878;recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, MONDO:0018820 26805781;30245509;31339582;32527145;35568137;39472908;40156300 False 3 100;0;0 21.433 False ENSG00000183597 ENSG00000183597 HGNC:25439 TANGO2 gene TANGO2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 26805782;26805781;30245509 False 3 67;0;33 21.433 False ENSG00000183597 ENSG00000183597 HGNC:25439 TARS2 gene TARS2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM: 615918;combined oxidative phosphorylation defect type 21,NDO:0014398 39394138;33153448;34508595;37454282 False 3 100;0;0 21.433 False ENSG00000143374 ENSG00000143374 HGNC:30740 TARS2 gene TARS2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM:615918 33153448;24827421;34508595 False 3 100;0;0 21.433 False ENSG00000143374 ENSG00000143374 HGNC:30740 TAT gene TAT Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) 27604308;28255985 False 3 100;0;0 21.433 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ NHS GMS;South West GLH;London South GLH;MetBioNet;Expert Review Green;MetBioNet;London South GLH;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial lipid metabolism;Dilated Cardiomyopathy, X-Linked;Neutropenia, muscle weakness, growth retardation;Non-compaction cardiomyopathy;Barth syndrome, 302060;Left Ventricular Noncompaction Cardiomyopathy;HCM, mixed;Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Barth syndrome;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) 27604308 False 3 100;0;0 21.433 False ENSG00000102125 ENSG00000102125 HGNC:11577 TAZ gene TAZ London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Barth syndrome, 302060;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias);Disorders of mitochondrial lipid metabolism 27604308 False 3 100;0;0 21.433 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D24 gene TBC1D24 Wessex and West Midlands GLH;NHS GMS;NIHRBR-RD Consortium SPEED_v3.0_20170404;Victorian Clinical Genetics Services;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "DOORS syndrome 220500;Epileptic encephalopathy, early infantile, 16 615338;Myoclonic epilepsy, infantile, familial 605021" 20797691;23343562;24291220;10741954;20727515 False 3 17;17;67 21.433 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D2B gene TBC1D2B Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with seizures and gingival overgrowth, OMIM:619323;neurodevelopmental disorder with seizures and gingival overgrowth, MONDO:0859148 32623794;38374468 False 3 100;0;0 21.433 False ENSG00000167202 ENSG00000167202 HGNC:29183 TBCD gene TBCD Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193;Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646 27666370;27666374 False 3 67;33;0 21.433 False ENSG00000141556 ENSG00000141556 HGNC:11581 TBCK gene TBCK Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900;seizures 27040691;27040692 False 3 67;33;0 21.433 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 41, 616944;Pierpont syndrome, 602342 29777588;25102098;30365874;21834056;9450851 False 3 29;14;57 21.433 False ENSG00000177565 ENSG00000177565 HGNC:29529 TBX20 gene TBX20 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, OMIM:611363;atrial septal defect 4, MONDO:0012654;Dilated cardiomyopathy, MONDO:0005021 17668378;19762328;37657916;33585493;29089047;35282022 False 3 67;33;0 21.433 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX20 gene TBX20 Expert Review Green;NHS GMS;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 4, OMIM:611363;Cardiomyopathy, dilated with or without LVNC;Atrial septal defect, congential heart disease 33585493;27510170;28798025;32600061;22080862;17668378;30384889;35282022 False 3 100;0;0 21.433 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX20 gene TBX20 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, OMIM:611363;atrial septal defect 4, MONDO:0012654;Dilated cardiomyopathy, MONDO:0005021 17668378;19762328;37657916;33585493;29089047;35282022 False 3 67;33;0 21.433 False ENSG00000164532 ENSG00000164532 HGNC:11598 TCF4 gene TCF4 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pitt-Hopkins syndrome 610954" 29604340;17436255 False 3 83;17;0 21.433 False ENSG00000196628 ENSG00000196628 HGNC:11634 TCN2 gene TCN2 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital neutropaenia;Intellectual disability;A- or hypo-gammaglobulinaemia;Agranulocytosis;Combined B and T cell defect;SCID;Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) 27604308;19373259 False 3 100;0;0 21.433 False ENSG00000185339 ENSG00000185339 HGNC:11653 TDP2 gene TDP2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 23, 616949 24658003;30109272;31410782 False 3 100;0;0 21.433 False ENSG00000111802 ENSG00000111802 HGNC:17768 TECRL gene TECRL NHS GMS;Expert Review Green;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021 27861123;30790670;32173957;33367594 False 3 75;25;0 21.433 False ENSG00000205678 ENSG00000205678 HGNC:27365 TEFM gene TEFM Expert Review Green;Literature;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, OMIM:620451 36823193 False 3 100;0;0 21.433 False ENSG00000172171 ENSG00000172171 HGNC:26223 TFAM gene TFAM Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 27448789;31785789;32399598;34647195 False 3 100;0;0 21.433 False ENSG00000108064 ENSG00000108064 HGNC:11741 TFE3 gene TFE3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;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) Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 30595499;31833172;32409512;https://doi.org/10.1126/scisignal.aax0926 False 3 50;17;33 21.433 False ENSG00000068323 ENSG00000068323 HGNC:11752 TFR2 gene TFR2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250;Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000106327 ENSG00000106327 HGNC:11762 TH gene TH Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines);Parkinson Disease and Complex Parkinsonism 27604308;24753243 False 3 100;0;0 21.433 False ENSG00000180176 ENSG00000180176 HGNC:11782 TIAM1 gene TIAM1 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with language delay and seizures, OMIM:619908 35240055;33328293 False 3 67;33;0 21.433 False ENSG00000156299 ENSG00000156299 HGNC:11805 TIMM50 gene TIMM50 Expert Review Green;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 3-methylglutaconic aciduria, type IX, 617698;intellectual disability and seizure;epilepsy and developmental delay;epileptic encephalopathy 27573165;30190335;31058414;Serajee et al. (ASHG conference 2015 - abstract Nr. 2299T) False 3 50;50;0 21.433 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM50 gene TIMM50 Expert Review Green;Literature;Expert Review;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX 617698 27573165 False 3 50;50;0 21.433 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700;Jensen syndrome, 311150;Disorders of the mitochondrial import system;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Deafness, X-linked 1, progressive 27604308 False 3 100;0;0 21.433 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMMDC1 gene TIMMDC1 Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 28604674;33278652 False 3 100;0;0 21.433 False ENSG00000113845 ENSG00000113845 HGNC:1321 TK2 gene TK2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 27604308 False 3 100;0;0 21.433 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency 27374773;27374774 False 3 50;50;0 21.433 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM165 gene TMEM165 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727;CDG2K (other congenital disorders of glycosylation) 27604308 False 3 0;0;0 21.433 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM167A gene TMEM167A Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MONDO:0100328 40924476 False 3 100;0;0 21.433 False ENSG00000174695 ENSG00000174695 HGNC:28330 TMEM199 gene TMEM199 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIp 616829 26833330 False 3 0;0;0 21.433 False ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM222 gene TMEM222 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470 33824500;27457812 False 3 67;33;0 21.433 False ENSG00000186501 ENSG00000186501 HGNC:25363 TMEM43 gene TMEM43 NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, AD 614302 False 3 50;0;50 21.433 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM43 gene TMEM43 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5 (604400);Arrhythmogenic right ventricular dysplasia 5 ;Emery-Dreifuss muscular dystrophy 7, AD (614302) 27532257;23812740;29567486;26840987 False 3 86;14;0 21.433 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM43 gene TMEM43 Expert List;Expert Review Green;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 Arrhythmogenic right ventricular dysplasia 5;Arrhythmogenic right ventricular dysplasia 5 (604400);Emery-Dreifuss muscular dystrophy 7, AD (614302) 23812740;27532257 False 3 86;14;0 21.433 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM5 gene TMEM5 Expert Review Green 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, 10 27212206 False 3 0;0;0 21.433 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM63B gene TMEM63B Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 118, OMIM:621250 37421948 False 3 100;0;0 21.433 False ENSG00000137216 ENSG00000137216 HGNC:17735 TMEM70 gene TMEM70 MetBioNet;Expert Review Green;NHS GMS;Expert Review Green 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 False 3 100;0;0 21.433 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMEM70 gene TMEM70 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;Isolated complex V deficiency;Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 27604308 False 3 100;0;0 21.433 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMX2 gene TMX2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730;Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887 31586943;31735293;31270415 False 3 100;0;0 21.433 False ENSG00000213593 ENSG00000213593 HGNC:30739 TNNC1 gene TNNC1 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 13, ;Cardiomyopathy, dilated, 1Z (611879);Cardiomyopathy, hypertrophic, 13 (613243) 27532257;28369730;30681346 False 3 67;33;0 21.433 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNC1 gene TNNC1 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Z;Cardiomyopathy, familial hypertrophic, 13, False 3 100;0;0 21.433 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNC1 gene TNNC1 Expert Review Green;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, 13 (613243);Cardiomyopathy, dilated, 1Z;Cardiomyopathy, dilated, 1Z (611879) 20186049;27532257 False 3 50;33;17 21.433 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 7 ;?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, dilated, 1FF (613286);Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, hypertrophic, 7 (613690) 27532257;28369730;30681346 False 3 83;17;0 21.433 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3 gene TNNI3 Expert Review Green;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, dilated, 1FF (613286);Cardiomyopathy, dilated, 2A,;?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, dilated, 1FF;Cardiomyopathy, hypertrophic, 7 (613690) 20186049;27532257;21533915 False 3 83;17;0 21.433 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3 gene TNNI3 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy;Cardiomyopathy, familial hypertrophic, 7;Cardiomyopathy, dilated, 1FF;Cardiomyopathy, dilated, 2A, False 3 100;0;0 21.433 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 50;50;0 21.433 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNI3K gene TNNI3K Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117 24925317;25791106;29355681;30010057 False 3 100;0;0 21.433 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNI3K gene TNNI3K NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy 616117 False 3 100;0;0 21.433 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Cardiomyopathy, dilated, 1D (601494);Cardiomyopathy, familial hypertrophic, 2 ;Left ventricular noncompaction 6 (601494) 27532257;28369730;30681346 False 3 83;17;0 21.433 False ENSG00000118194 ENSG00000118194 HGNC:11949 TNNT2 gene TNNT2 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D;Cardiomyopathy, familial hypertrophic, 2;Hypertrophic cardiomyopathy;Left ventricular noncompaction 6, False 3 100;0;0 21.433 False ENSG00000118194 ENSG00000118194 HGNC:11949 TNNT2 gene TNNT2 Expert Review Green;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, 1D;Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Cardiomyopathy, dilated, 1D (601494);Left ventricular noncompaction 6 (601494) 20186049;27532257;20031601 False 3 83;17;0 21.433 False ENSG00000118194 ENSG00000118194 HGNC:11949 TNPO2 gene TNPO2 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability;Dysmorphic features;Microcephaly;Seizures;Hypotonia 34314705 False 3 100;0;0 21.433 False ENSG00000105576 ENSG00000105576 HGNC:19998 TOMM7 gene TOMM7 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, OMIM:620601;Garg-Mishra progeroid syndrome, MONDO:0957953 36282599;36299998;39333057 False 3 50;50;0 21.433 False ENSG00000196683 ENSG00000196683 HGNC:21648 TOP3A gene TOP3A Expert Review Green;Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 29290614 False 3 0;0;100 21.433 False ENSG00000177302 ENSG00000177302 HGNC:11992 TPK1 gene TPK1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 False 3 100;0;0 21.433 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPM1 gene TPM1 Expert Review Green;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, 1Y;Cardiomyopathy, dilated, 1Y (611878);Cardiomyopathy, hypertrophic, 3 (115196);Left ventricular noncompaction 9 ( 611878) 20186049;27532257 False 3 83;17;0 21.433 False ENSG00000140416 ENSG00000140416 HGNC:12010 TPM1 gene TPM1 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 9 ( 611878);Cardiomyopathy, hypertrophic, 3 (115196);Cardiomyopathy, familial hypertrophic, 3;Cardiomyopathy, dilated, 1Y (611878) 27532257;28369730;30681346 False 3 83;17;0 21.433 False ENSG00000140416 ENSG00000140416 HGNC:12010 TPM1 gene TPM1 NHS GMS;South West GLH;London South GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 3;Cardiomyopathy, dilated, 1Y;Left ventricular noncompaction 9, False 3 100;0;0 21.433 False ENSG00000140416 ENSG00000140416 HGNC:12010 TPP1 gene TPP1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Ceroid lipofuscinosis, neuronal, 2;CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal);Hereditary ataxia 27604308 False 3 0;0;0 21.433 False ENSG00000166340 ENSG00000166340 HGNC:2073 TPP1 gene TPP1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 204500 9295267;10665500;12414822;17959406 False 3 17;17;67 21.433 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRA2B gene TRA2B Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ramond-Elliott neurodevelopmental syndrome, OMIM:621421 36549593 False 3 100;0;0 21.433 False ENSG00000136527 ENSG00000136527 HGNC:10781 TRAK1 gene TRAK1 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal "Epileptic encephalopathy, early infantile, 68 618201" 28364549 False 3 67;33;0 21.433 False ENSG00000182606 ENSG00000182606 HGNC:29947 TRAP1 gene TRAP1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal VACTERL;CAKUT PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 3 100;0;0 21.433 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRAPPC12 gene TRAPPC12 Expert Review Green;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 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669;Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696 28777934;32369837 False 3 50;50;0 21.433 True ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC4 gene TRAPPC4 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, 618741 31794024 False 3 100;0;0 21.433 False ENSG00000196655 ENSG00000196655 HGNC:19943 TRDN gene TRDN South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441 26200674 False 3 83;17;0 21.433 False ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;Familial cerebral small vessel disease;Intracerebral calcification disorders;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1;Inherited white matter disorders 27604308;12624136;25604658 False 3 100;0;0 21.433 False ENSG00000213689 ENSG00000213689 HGNC:12269 TREX1 gene TREX1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services 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 Aicardi-Goutieres syndrome 1, dominant and recessive, 225750;seizures;Vasculopathy, retinal, with cerebral leukodystrophy, 192315;{Systemic lupus erythematosus, susceptibility to}, 152700 29239743;15883328;17846997;17357087;18583934 False 3 67;33;0 21.433 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM37 gene TRIM37 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism (Other peroxisomal disorders);Mulibrey nanism 27604308 False 3 0;0;0 21.433 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIM63 gene TRIM63 Expert Review Green;South West GLH;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 31, OMIM:621270;cardiomyopathy, familial hypertrophic, 31, MONDO:0979573 32451364;22821932 False 3 50;50;0 21.433 False ENSG00000158022 ENSG00000158022 HGNC:16007 TRIM8 gene TRIM8 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early-onset epileptic encephalopathy (EOEE);EE;Seizures 30244534;27346735;23934111 False 3 75;25;0 21.433 False ENSG00000171206 ENSG00000171206 HGNC:15579 TRIT1 gene TRIT1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, OMIM:617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 28185376;24901367 False 3 100;0;0 21.433 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRIT1 gene TRIT1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 35, OMIM :617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 24901367;28185376 False 3 100;0;0 21.433 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 30, 616974 27132592 False 3 0;100;0 21.433 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 29021354;26189817 False 3 100;0;0 21.433 False ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal {Deafness, mitochondrial, modifier of}, 580000;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Liver failure, transient infantile, 613070 27604308 False 3 100;0;0 21.433 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD);retinitis pigmentosa with erythrocytic microcytosis 25652405;26494905 False 3 100;0;0 21.433 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM3 gene TRPM3 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures, OMIM:620224 31278393;32439617;32343227;32427099 False 3 40;60;0 21.433 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000083067 ENSG00000083067 HGNC:17992 TRPM6 gene TRPM6 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014;Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) 27604308;23942199;12032570 False 3 100;0;0 21.433 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM6 gene TRPM6 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014 False 3 67;33;0 21.433 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM7 gene TRPM7 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypomagnesaemia with secondary hypocalcaemia 39099563;35712613;35561741 False 3 100;0;0 21.433 False ENSG00000092439 ENSG00000092439 HGNC:17994 TRPM7 gene TRPM7 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypomagnesaemia with secondary hypocalcaemia 39099563;35712613;35561741 False 3 100;0;0 21.433 False ENSG00000092439 ENSG00000092439 HGNC:17994 TSC1 gene TSC1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341;Tuberous sclerosis-1 191100 28215400;19175396;16114042;12112044 False 3 67;33;0 21.433 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, type II, somatic 607341;Tuberous sclerosis-2 613254 28215400;19175396;29056246 False 3 50;50;0 21.433 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN54 gene TSEN54 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5, OMIM:610204;Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 7854532;16470708;20956791;20952379;26701950 False 3 67;33;0 21.433 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM London North GLH;NHS GMS;Expert Review Green;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;Combined oxidative phosphorylation deficiency 3 610505;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 21.433 False ENSG00000123297 ENSG00000123297 HGNC:12367 TSFM gene TSFM NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 3 610505 27604308 False 3 50;50;0 21.433 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex III deficiency;Mitochondrial Respiratory Chain Complex III Deficiency;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial complex III deficiency, nuclear type 2, 615157 27604308 False 3 100;0;0 21.433 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTC37 gene TTC37 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 1 (Other metabolic disorders) 27604308;25976726;28292286;31132033 False 3 67;0;33 21.433 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTN gene TTN NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 9,;Cardiomyopathy, dilated, 1G http://www.ncbi.nlm.nih.gov/pubmed/22335739 False 3 100;0;0 21.433 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTN gene TTN Expert Review Green;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, imprinted status unknown Myopathy, proximal, with early respiratory muscle involvement (603689);Cardiomyopathy, familial hypertrophic, 9 (613765);Tibial muscular dystrophy, tardive (600334);Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807);Cardiomyopathy, dilated, 1G (604145);Salih myopathy (611705);Cardiomyopathy, dilated, 1G 20186049;27532257;22335739;25589632;29238064;26777568;27869827 False 3 71;14;14 21.433 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTPA gene TTPA Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal TTP1 deficiency (Other disorders of vitamins and cofactors);Hereditary ataxia 27604308;26981194 False 3 100;0;0 21.433 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Expert Review Green;NHS GMS;South West GLH;South West GLH Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM 30878017;31131842;31118583;31111153;30120737 False 3 50;0;50 21.433 False ENSG00000118271 ENSG00000118271 HGNC:12405 TTR gene TTR South West GLH;London South GLH;Expert Review Green;Wessex and West Midlands GLH;Expert list;Emory Genetics Laboratory Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac amyloidosis;Amyloidosis, hereditary, transthyretin-related, 105210 28475415;16115295;16194874;26537620;1626570;1570831;30878017;31131842;31118583;31111153;30120737 False 3 60;40;0 21.433 False ENSG00000118271 ENSG00000118271 HGNC:12405 TTR gene TTR Expert Review Green;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 3 50;50;0 21.433 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA1A gene TUBA1A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lissencephaly 3, 611603 17218254;17584854;18954413;21403111;22948023 False 3 67;33;0 21.433 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB2A gene TUBB2A Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 24702957;25326637;32571897 False 3 60;40;0 21.433 True ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 7, OMIM:610031 19465910;22333901 False 3 67;33;0 21.433 False ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 1, 614039 20829227;26130693;25008804 False 3 67;33;0 21.433 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438 24742798;26643067 False 3 67;33;0 21.433 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;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 4, 615412 23603762;24860126;27010057;29706637;31151415 False 3 67;33;0 21.433 False ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737 31630790 False 3 100;0;0 21.433 False ENSG00000130640 ENSG00000130640 HGNC:18599 TUFM gene TUFM Expert Review Green;Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 4 610678;Combined oxidative phosphorylation deficiency 4, 610678 26741492;17160893;25735936;28132884 False 3 100;0;0 21.433 False ENSG00000178952 ENSG00000178952 HGNC:12420 TUSC3 gene TUSC3 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 18452889;18455129;21739581;26864433;27148795 False 3 0;0;0 21.433 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR);Perrault syndrome 5, OMIM:616138 (AR);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) 27604308 False 3 100;0;0 21.433 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism);Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial Neurogastrointestinal Encephalopathy Disease;Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 27604308;24816252 False 3 100;0;0 21.433 False ENSG00000025708 ENSG00000025708 HGNC:3148 U2AF2 gene U2AF2 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 28135719;31785789;33057194;34112922;36747105;37092751;37134193 False 3 75;25;0 21.433 False ENSG00000063244 ENSG00000063244 HGNC:23156 UBA5 gene UBA5 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 44, 617132 27545681;27545674 False 3 67;33;0 21.433 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP2L gene UBAP2L Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies, OMIM:620494 35977029 False 3 50;50;0 21.433 False ENSG00000143569 ENSG00000143569 HGNC:29877 UBE2A gene UBE2A Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green 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, Nascimento-type Nascimento et al (2006) Am J Hum Genet 79: 549-555 False 3 83;17;0 21.433 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE3A gene UBE3A Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Angelman syndrome 105830 Jedele (2007) Seminars in Pediatric Neurology 14(3)108-117;9887341;8988171;8988172;21974935;[7795645;2309780;12545427;18500341] False 3 83;17;0 21.433 False ENSG00000114062 ENSG00000114062 HGNC:12496 UBR5 gene UBR5 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder, MONDO:0100038 39721588 False 3 100;0;0 21.433 False ENSG00000104517 ENSG00000104517 HGNC:16806 UBR7 gene UBR7 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features 33340455 False 3 100;0;0 21.433 False ENSG00000012963 ENSG00000012963 HGNC:20344 UFM1 gene UFM1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy hypomyelinating 14, 617899 28931644;29868776 False 3 67;33;0 21.433 False ENSG00000120686 ENSG00000120686 HGNC:20597 UFSP2 gene UFSP2 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Poor weight gain;microcephaly;epilepsy;developmental delay;lack of speech;intellectual disability 33473208;28892125;26428751;32755715 False 3 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 ENSG00000109775 ENSG00000109775 HGNC:25640 UGDH gene UGDH Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 84 - MIM #618792 32001716 False 3 100;0;0 21.433 False ENSG00000109814 ENSG00000109814 HGNC:12525 UGGT1 gene UGGT1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation, MONDO:0015286 40267907 False 3 100;0;0 21.433 False ENSG00000136731 ENSG00000136731 HGNC:15663 UGGT1 gene UGGT1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation, MONDO:0015286 40267907 False 3 100;0;0 21.433 False ENSG00000136731 ENSG00000136731 HGNC:15663 UGP2 gene UGP2 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 83, OMIM:618744 31820119 False 3 100;0;0 21.433 False ENSG00000169764 ENSG00000169764 HGNC:12527 UGT1A1 gene UGT1A1 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I 218800;Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport);Crigler-Najjar syndrome, type II 606785 27604308;24816252 False 3 100;0;0 21.433 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMOD gene UMOD Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cystic kidney disease;Unexplained kidney failure in young people;Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) 27604308;31422399;29180396 False 3 100;0;0 21.433 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMPS gene UMPS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Orotic aciduria;Orotic aciduria (Disorders of pyrimidine metabolism) 27604308;9042911 False 3 0;0;0 21.433 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13A gene UNC13A Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, OMIM:621456;Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455;?Intellectual development disorder with seizures and dysmorphic facies , OMIM:621457 28192369;39634123;41125872 False 3 100;0;0 21.433 False ENSG00000130477 ENSG00000130477 HGNC:23150 UNC80 gene UNC80 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, OMIM:616801 26708751;26708753;26545877;29572195 False 3 67;33;0 21.433 False ENSG00000144406 ENSG00000144406 HGNC:26582 UPB1 gene UPB1 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism);Beta-ureidopropionase deficiency 613161 27604308;24526388;25638458;22525402;15385443;17964839 False 3 50;0;50 21.433 False ENSG00000100024 ENSG00000100024 HGNC:16297 UQCC2 gene UQCC2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services 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 3 50;50;0 21.433 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert Review Green;Expert Review Green;NHS GMS;London North GLH;NHS GMS;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex III deficiency 25446085;28604960;12709789;23454382 False 3 50;0;50 21.433 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 23281071;28275242;33865955 False 3 75;25;0 21.433 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 31883641 False 3 67;33;0 21.433 False ENSG00000169021 ENSG00000169021 HGNC:12587 UROD gene UROD London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) 27604308 False 3 100;0;0 21.433 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis);Porphyria, congenital erythropoietic 263700 27604308 False 3 100;0;0 21.433 False ENSG00000188690 ENSG00000188690 HGNC:12592 USP18 gene USP18 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, 617397 12833411;27325888;31940699 False 3 100;0;0 21.433 False ENSG00000184979 ENSG00000184979 HGNC:12616 VAMP2 gene VAMP2 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cortical visual impairment;Seizures;Stereotypic behavior;Generalized hypotonia;Intellectual disability;Abnormality of movement;Global developmental delay;Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment;Autistic behavior 27458546;22183055;30929742 False 3 75;25;0 21.433 False ENSG00000220205 ENSG00000220205 HGNC:12643 VARS gene VARS Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802 26539891;29691655;30275004 False 3 67;33;0 21.433 False ENSG00000204394 ENSG00000204394 HGNC:12651 VARS2 gene VARS2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 20, 615917 False 3 100;0;0 21.433 False ENSG00000137411 ENSG00000137411 HGNC:21642 VCL gene VCL NHS GMS;South West GLH;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 15,;Cardiomyopathy, dilated, 1W False 3 100;0;0 21.433 False ENSG00000035403 ENSG00000035403 HGNC:12665 VCL gene VCL Expert Review Green;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, 1W;Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, hypertrophic, 15 (613255) 20186049;27532257 False 3 83;17;0 21.433 False ENSG00000035403 ENSG00000035403 HGNC:12665 VIPAS39 gene VIPAS39 Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome 27604308;22753090;26808426 False 3 100;0;0 21.433 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Green;London North GLH;NHS GMS 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 Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 27604308 False 3 100;0;0 21.433 False ENSG00000167397 ENSG00000167397 HGNC:23663 VPS11 gene VPS11 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12 (MIM 616683);Leukodystrophy, hypomyelinating, 12 27473128;26307567;27120463 False 3 75;25;0 21.433 False ENSG00000160695 ENSG00000160695 HGNC:14583 VPS16 gene VPS16 NHS GMS;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-like syndrome (biallelic);Dystonia Associated with Lysosomal Abnormalities (monoallelic);Dystonia 30, OMIM:619291 33938619;34013567 False 3 100;0;0 21.433 False ENSG00000215305 ENSG00000215305 HGNC:14584 VPS33A gene VPS33A NHS GMS;Expert Review Green;Other Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome OMIM:617303;mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 28013294;27547915;31070736 False 3 100;0;0 21.433 False ENSG00000139719 ENSG00000139719 HGNC:18179 VPS33B gene VPS33B Expert Review Green;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Inherited bleeding disorders;Unexplained kidney failure in young people;CAKUT;ARC Syndrome (Other metabolic disorders);Arthrogryposis 27604308;18853461 False 3 100;0;0 21.433 False ENSG00000184056 ENSG00000184056 HGNC:12712 WARS2 gene WARS2 Expert Review Green;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 28650581;28905505;28236339 False 3 50;50;0 21.433 False ENSG00000116874 ENSG00000116874 HGNC:12730 WARS2 gene WARS2 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 29783990;28236339;29120065;28650581;28905505 False 3 67;33;0 21.433 False ENSG00000116874 ENSG00000116874 HGNC:12730 WASF1 gene WASF1 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with absent language and variable seizures, 618707 29961568 False 3 67;33;0 21.433 False ENSG00000112290 ENSG00000112290 HGNC:12732 WDR37 gene WDR37 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurooculocardiogenitourinary syndrome, OMIM:618652 31327510;31327508 False 3 100;0;0 21.433 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000047056 ENSG00000047056 HGNC:31406 WDR45 gene WDR45 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review;Expert Review Green 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) Neurodegeneration with brain iron accumulation 5, 300894 23176820;Saitsu et al (2013) Nat Genet. 45(4):445-9 False 3 83;17;0 21.433 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45 gene WDR45 London North GLH;NHS GMS;Expert Review Green 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) Neurodegeneration with brain iron accumulation 5 27604308 False 3 0;0;0 21.433 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 21937992;28503735;27431290 False 3 50;50;0 21.433 True ENSG00000141580 ENSG00000141580 HGNC:25072 WDR47 gene WDR47 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder, MONDO:0700092;epilepsy, MONDO:0005027 39609633 False 3 100;0;0 21.433 False ENSG00000085433 ENSG00000085433 HGNC:29141 WDR73 gene WDR73 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1, 251300 25466283;26123727;26070982 False 3 67;33;0 21.433 False ENSG00000177082 ENSG00000177082 HGNC:25928 WFS1 gene WFS1 Expert Review Green;NHS GMS;London North GLH;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, OMIM:222300;Wolfram-like syndrome, autosomal dominant, OMIM:614296;Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853 27604308;30171196;33693650 False 3 50;0;50 21.433 False ENSG00000109501 ENSG00000109501 HGNC:12762 WNK3 gene WNK3 NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Prieto syndrome, OMIM:309610;Intellectual disability, MONDO:0001071 26350204;35678782 False 3 25;0;75 21.433 False ENSG00000196632 ENSG00000196632 HGNC:14543 WWOX gene WWOX Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;Expert Review Green;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 28, 616211 24369382;24456803 False 3 83;17;0 21.433 False ENSG00000186153 ENSG00000186153 HGNC:12799 XDH gene XDH London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Xanthinuria type II (Disorders of purine metabolism);Xanthinuria type I (Disorders of purine metabolism) 27604308 False 3 100;0;0 21.433 False ENSG00000158125 ENSG00000158125 HGNC:12805 XPNPEP3 gene XPNPEP3 Expert Review Green;NHS GMS Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 100;0;0 21.433 False ENSG00000196236 ENSG00000196236 HGNC:28052 XYLT1 gene XYLT1 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 23982343;24581741;22711505;30554721 False 3 100;0;0 21.433 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome 26987875;26027496 False 3 0;0;0 21.433 False ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 London North GLH;NHS GMS;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 27604308 False 3 100;0;0 21.433 False ENSG00000139131 ENSG00000139131 HGNC:24249 YIPF5 gene YIPF5 NHS GMS;Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 33164986 False 3 100;0;0 21.433 False ENSG00000145817 ENSG00000145817 HGNC:24877 YWHAG gene YWHAG Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic encephalopathy, early infantile, 56 617665 26297819;27288018;28777935;25363760 False 3 67;33;0 21.433 False ENSG00000170027 ENSG00000170027 HGNC:12852 ZBTB18 gene ZBTB18 Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 22, 612337 27598823;24193349;26740508 False 3 67;33;0 21.433 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB47 gene ZBTB47 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092 37743782 False 3 100;0;0 21.433 False ENSG00000114853 ENSG00000114853 HGNC:26955 ZDHHC9 gene ZDHHC9 Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review Green;Expert Review Green;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females epilepsy;intellectual disability;Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 24357419;26000327;29681091 False 3 67;33;0 21.433 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 Wessex and West Midlands GLH;NHS GMS;Victorian Clinical Genetics Services;UKGTN;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mowat-Wilson syndrome Dastot-Le Moal et al (2007) Hum Mut 28(4): 313-321 False 3 83;17;0 21.433 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZNF142 gene ZNF142 Expert Review Green;Wessex and West Midlands GLH;NHS GMS;Expert Review;Expert Review;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Seizures;Dystonia;Intellectual disability;Global developmental delay;Tremor;Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 31036918 False 3 25;75;0 21.433 False ENSG00000115568 ENSG00000115568 HGNC:12927 ZNF335 gene ZNF335 Expert Review Green;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive, 615095 23178126;27540107;29652087;30500859;31187448 False 3 100;0;0 21.433 False ENSG00000198026 ENSG00000198026 HGNC:15807 ZNFX1 gene ZNFX1 Expert Review Green;NHS GMS;Literature Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, OMIM:619644;immunodeficiency 91 and hyperinflammation, MONDO:0030491 33876776;33872655 False 3 100;0;0 21.433 False ENSG00000124201 ENSG00000124201 HGNC:29271 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert Review Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 3 100;0;0 21.433 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 0;0;0 21.433 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 DMPK_CTG str DMPK NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 100;0;0 21.433 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 FXN_GAA str FXN NHS GMS;Expert Review Green;Expert list Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 100;0;0 21.433 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 ISCA-37411-Loss region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems;612001;PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms;PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia 19289393;19136953;18278044 False 3 0;0;0 21.433 False 15 30900686 32153204 3 60 cnv_loss 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss ISCA-37415-Loss region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects 19843651;18550696;24246141 False 3 0;0;0 21.433 False 16 15417854 16198408 3 60 cnv_loss 16p13.11 recurrent region (includes MYH11) Loss ISCA-37423-Gain region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.;mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly);congenital heart disease;8p23.1 duplication syndrome 21933911;23345203 False 3 100;0;0 21.433 False 8 8242542 11908820 2 60 cnv_gain 8p23.1 recurrent region (includes GATA4) Gain ISCA-37429-Loss region Expert Review Green;NHS GMS;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 100;0;0 21.433 True 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss ISCA-37430-Loss region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay;growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment;Chromosome 17p13.3 duplication syndrome;prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw;Characteristic facies, pre- and post-natal growth retardation;247200;classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities;Miller-Dieker lissencephaly syndrome 19584063;1671808;1879837;3391613;12621583;7634541 False 3 0;0;0 21.433 False 17 1344539 2685615 3 60 cnv_loss 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss ISCA-37432-Gain region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia;Speech and language delay;Seizures (not all);Chromosome 17q12 duplication syndrome;614526;Behavioural difficulties False 3 0;0;0 21.433 False 17 36458167 37854616 3 60 cnv_gain 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain ISCA-37434-Loss region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown posteriorly rotated, low-set, abnormal ears;brachycephaly;epicanthus;heart defects;pointed chin;deep-set eyes;microcephaly;hypotonia;seizures;poor/absent speech;central nervous system anomalies;large anterior fontanels;microbrachycephaly;mental retardation;growth impairment;large, late-closing anterior fontanel;flat nose;nasal bridge;developmental delay;hearing impairment;distinct dysmorphic features;1p36 deletion syndrome;607872 17918734;22766398;18245432 False 3 0;0;0 21.433 False 1 898703 6229913 3 60 cnv_loss 1p36 terminal region (includes GABRD) Loss ISCA-37440-Loss region Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology BIALLELIC, autosomal or pseudoautosomal hyperphagia;lactic acidemia;mild/moderate mental retardation;Hypotonia-cystinuria syndrome (HCS);606407;failure to thrive;nephrolithiasis;rapid weight gain in late childhood;minor facial dysmorphism;growth hormone deficiency;facial dysmorphism;respiratory chain complex IV deficiency;cystinuria;neonatal seizures;2p21 deletion syndrome;hypotonia;severe somatic and developmental delay 18234729;11524703;16385448 False 3 0;0;0 21.433 False 2 44183133 44362502 30 60 cnv_loss 2p21 region (includes PREPL and SLC3A1) Loss ISCA-37446-Loss region Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown micrognathia;neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells;clefting;DiGeorge syndrome;Velocardiofacial syndrome;188400;cardiac malformations;Hearing deficits False 3 0;0;0 21.433 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37448-Loss region Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay/intellectual disability, epilepsy, autism spectrum disorder, schizophrenia, congenital heart disease, and variable dysmorphic features 31451536;24352232;30767844;31665216 False 3 100;0;0 21.433 False 15 22782170 23040134 3 60 cnv_loss 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss ISCA-37478-Gain region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636;chromosome 15q11-q13 duplication syndrome;autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems 18374305;16840569;9106540 False 3 0;0;0 21.433 False 15 23465365 28134728 3 60 cnv_gain 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Loss region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830 22045295;7611294 False 3 0;0;0 21.433 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37493-Loss region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;seizures;agenesis of the corpus callosum;intellectual disability;hand and foot anomalies;612337;non-specific craniofacial anomalies;hypoplasia;psychomotor retardation;hypogenesis of the corpus callosum 21800092;17603806;22678713 False 3 0;0;0 21.433 False 1 243124428 245154985 3 60 cnv_loss 1q43q44 terminal region (includes AKT3) Loss ISCA-46290-Gain region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep;300801 25425167;19716111;21418194 False 3 0;0;0 21.433 False X 48447780 52444264 3 60 cnv_gain Xp11.22p11.23 recurrent region (includes SHROOM4) Gain ISCA-46295-Loss region NHS GMS;Expert Review Green;ClinGen Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown seizures;20236110;mental retardation;22775350;dysmorphic features;developmental delay;severe epileptic encephalopathy 19898479;20236110;22775350 False 3 0;0;0 21.433 False 15 31727418 32153204 3 60 cnv_loss 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss ISCA-46297-Loss region ClinGen;Expert Review Green Unexplained death in infancy and sudden unexplained death in childhood Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 31204719;19888295;20301607;25719193;30836598 False 3 100;0;0 21.433 False 16 21558792 21729102 30 60 cnv_loss 16p12.2 recurrent region (distal)(includes OTOA) Loss ISCA-46304-Gain region ClinGen;Expert Review Green 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) 22679399;29141583;29618507;32043567 False 3 100;0;0 21.433 False X 154008529 154110279 3 60 cnv_gain Xq28 region (includes MECP2) Gain ISCA-46743-Gain region ClinGen;Expert Review Green 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) 23637084;24733578;26443594;25677961;31609727 False 3 100;0;0 21.433 False X 123900469 124102669 3 60 cnv_gain Xq25 region (includes STAG2) Gain