Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AARS2 gene AARS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Combined oxidative phosphorylation deficiency 8, 614096;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);infantile mitochondrial cardiomyopathy 27604308 False 3 0;0;0 0.116 False ENSG00000124608 ENSG00000124608 HGNC:21022 AASS gene AASS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Hyperlysinemia;Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 613163;mtDNA depletion syndrome;GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 False 3 0;0;0 0.116 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCA1 gene ABCA1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Tangier disease (Disorders of high density lipoprotein metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000165029 ENSG00000165029 HGNC:29 ABCB11 gene ABCB11 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport);Cholestasis, progressive familial intrahepatic 3 602347 AR;Gallbladder disease 1 600803 AD, AR;Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR 27604308 False 3 0;0;0 0.116 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Disorders of iron homeostasis;congenital cerebellar hypoplasia/atrophy (PMID: 26242992).;Anemia, sideroblastic, with ataxia;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;0 0.116 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC9 gene ABCC9 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant;ventricular tachycardia;Dilated cardiomyopathy;short qt;Brugada syndrome;Cardiomyopathy, dilated, 1O (608569);Atrial fibrillation, familial, 12 (614050);Cardiomyopathy, dilated, 1O;atrial fibrillation 27532257;27761167;24439875;15034580 False 3 0;50;50 0.116 False Other ENSG00000069431 ENSG00000069431 HGNC:60 ABCD1 gene ABCD1 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation);Adrenoleukodystrophy 300100 27604308 False 3 0;0;0 0.116 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type 27604308;23141461;25234635 False 3 0;0;0 0.116 False ENSG00000119688 ENSG00000119688 HGNC:68 ABHD5 gene ABHD5 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome 275630;Neutral lipid storage disease (Disorders of lipolysis) 27604308 False 3 0;0;0 0.116 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD8 gene ACAD8 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Isobutyric aciduria (Organic acidurias) 27604308 False 3 0;0;0 0.116 False ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 Expert Review Green Molecular autopsy 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 PMID:17564966;21057504 False 3 0;0;0 0.116 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria 610006;2-Methylbutyric aciduria (Organic acidurias) 27604308 False 3 0;0;0 0.116 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency;Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation);syndromic HCM 27604308 False 3 0;0;0 0.116 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Green Molecular autopsy 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;0 0.116 False ENSG00000075239 ENSG00000075239 HGNC:93 ACO2 gene ACO2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 False 3 0;0;0 0.116 False ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency;Peroxisomal acyl-CoA oxidase 1 deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 0.116 False ENSG00000161533 ENSG00000161533 HGNC:119 ACSF3 gene ACSF3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined methylmalonic and malonic aciduria (Organic acidurias);Combined malonic and methylmalonic aciduria 27604308 False 3 0;0;0 0.116 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACTC1 gene ACTC1 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 4;Atrial septal defect 5 (612794);Left ventricular noncompaction 4 (613424);Cardiomyopathy, hypertrophic, 11 (612098);Cardiomyopathy, dilated, 1R (613424);Hypertrophic Cardiomyopathy;Cardiomyopathy, dilated, 1R;Left Ventricular Noncompaction Cardiomyopathy;Cardiomyopathy, familial hypertrophic, 11 27532257;26061005;28369730 False 3 50;50;0 0.116 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1AA, with or without LVNC (612158);Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158);Dilated Cardiomyopathy, Dominant 27532257;25224718;26312134 False 3 50;50;0 0.116 False ENSG00000077522 ENSG00000077522 HGNC:164 ADAR gene ADAR Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6 27604308;12916015;23001123 False 3 0;0;0 0.116 False ENSG00000160710 ENSG00000160710 HGNC:225 AFG3L2 gene AFG3L2 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Ataxia, spastic, 5, autosomal recessive, 614487;Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Spinocerebellar ataxia 28, 610246;Disorders of mitochondrial DNA maintenance and integrity 27604308 False 3 0;0;0 0.116 False ENSG00000141385 ENSG00000141385 HGNC:315 AGA gene AGA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria 27604308 False 3 0;0;0 0.116 False ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type III, Cori (Glycogen storage disorders);Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease IIIb, 232400;syndromic HCM;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 0;0;0 0.116 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 600121;Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) 27604308 False 3 0;0;0 0.116 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Expert Review Green Molecular autopsy 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 0.116 False ENSG00000172482 ENSG00000172482 HGNC:341 AIFM1 gene AIFM1 Expert Review Green Molecular autopsy 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 PMID: 20362274 (two related males);PMID: 23217327 False 3 0;0;0 0.116 False ENSG00000156709 ENSG00000156709 HGNC:8768 AKR1D1 gene AKR1D1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal {Lead poisoning, susceptibility to} 612740;Acute hepatic porphyria (Acute neuropathic porphyrias);Porphyria, acute hepatic 612740 27604308 False 3 0;0;0 0.116 False ENSG00000148218 ENSG00000148218 HGNC:395 ALDH18A1 gene ALDH18A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypoprolinaemia, Cutis laxa, autosomal recessive, type IIIa (Disorders of ornithine or proline metabolism);Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH4A1 gene ALDH4A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Hyperprolinaemia type II (Disorders of ornithine or proline metabolism);Hyperprolinemia, type II 27604308 False 3 0;0;0 0.116 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Methylmalonate semialdehyde dehydrogenase deficiency 614105;3-Hydroxyisobutyric aciduria (Organic acidurias);Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) 27604308 False 3 0;0;0 0.116 False ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent 27604308 False 3 0;0;0 0.116 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Aldolase A deficiency (Glycogen storage disorders);Glycogen storage disease XII, 611881 27604308 False 3 0;0;0 0.116 False ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert Review Green Molecular autopsy 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 0.116 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ALG11-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ip 613661 27604308 False 3 0;0;0 0.116 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG3 gene ALG3 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000086848 ENSG00000086848 HGNC:15672 AMACR gene AMACR Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation);Alpha-methylacyl-CoA racemase deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000242110 ENSG00000242110 HGNC:451 AMN gene AMN Expert Review Green Molecular autopsy 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 0.116 False ENSG00000166126 ENSG00000166126 HGNC:14604 AMT gene AMT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 27604308 False 3 0;0;0 0.116 False ENSG00000145020 ENSG00000145020 HGNC:473 ANK2 gene ANK2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac arrhythmia, ankyrin-B-related 600919;Long QT syndrome-4;Brugada/Brugada like syndrome;catecholaminergic polymorphic ventricular tachycardia;Cardiac arrhythmia, ankyrin-B-related (600919);Long QT syndrome 4 600919;Long QT syndrome 4 (600919) 12571597;27761167;27818464;19862833;16301704;30420954 False 3 50;50;0 0.116 False ENSG00000145362 ENSG00000145362 HGNC:493 ANO10 gene ANO10 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, 613728 False 3 0;0;0 0.116 False ENSG00000160746 ENSG00000160746 HGNC:25519 APOA1 gene APOA1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Corneal clouding, autosomal recessive;Apolipoprotein A-I deficiency (Disorders of high density lipoprotein metabolism);ApoA-I and apoC-III deficiency, combined;Amyloidosis, 3 or more types 105200;Hypoalphalipoproteinemia 604091 27604308 False 3 0;0;0 0.116 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperchylomicronemia, late-onset 144650;Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias);{Hypertriglyceridemia, susceptibility to} 145750 27604308 False 3 0;0;0 0.116 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOC2 gene APOC2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type Ib 207750;Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) 27604308 False 3 0;0;0 0.116 False ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000130203 ENSG00000130203 HGNC:613 APOPT1 gene APOPT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency False 3 0;0;0 0.116 False ENSG00000256053 ENSG00000256053 HGNC:20492 APRT gene APRT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency 614723;Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARG1 gene ARG1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Argininaemia (Urea cycle disorders and inherited hyperammonaemias);Argininemia 207800 27604308 False 3 0;0;0 0.116 False ENSG00000118520 ENSG00000118520 HGNC:663 ARSA gene ARSA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green Molecular autopsy 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 0.116 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive 302950 False 3 0;0;0 0.116 False ENSG00000157399 ENSG00000157399 HGNC:719 ASL gene ASL Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria;Argininosuccinic aciduria (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 0.116 False ENSG00000126522 ENSG00000126522 HGNC:746 ASPA gene ASPA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Canavan disease 27604308 False 3 0;0;0 0.116 False ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias);Citrullinemia 27604308 False 3 0;0;0 0.116 False ENSG00000130707 ENSG00000130707 HGNC:758 ATAD3A gene ATAD3A Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome 617183 27640307 False 3 0;0;0 0.116 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATIC gene ATIC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;AICAR transformylase deficiency (Disorders of purine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000138363 ENSG00000138363 HGNC:794 ATP13A2 gene ATP13A2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome False 3 0;0;0 0.116 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP6AP1 gene ATP6AP1 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47 27231034 False 3 0;0;0 0.116 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A2 gene ATP6V0A2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease False 3 0;0;0 0.116 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Wilson disease 27604308 False 3 0;0;0 0.116 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATPAF2 gene ATPAF2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000171953 ENSG00000171953 HGNC:18802 AUH gene AUH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I;Methylglutaconic aciduria type I (Organic acidurias) 27604308 False 3 0;0;0 0.116 False ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11;congenital muscular dystrophies 23453667 False 3 0;0;0 0.116 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, progeroid type, 2 23664117;23664118 False 3 0;0;0 0.116 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green Molecular autopsy 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 0.116 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT1 gene B4GALT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type IId 607091 11901181;21920538 False 3 0;0;0 0.116 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000027847 ENSG00000027847 HGNC:930 B4GAT1 gene B4GAT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287 23877401 - both publications refer to the gene as B3GNT1 but provide NM_006876.2 as the reference which corresponds to the new gene symbol B4GAT1;23359570 False 3 0;0;0 0.116 False ENSG00000174684 ENSG00000174684 HGNC:15685 BAAT gene BAAT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial 27604308;23415802 False 3 0;0;0 0.116 False ENSG00000136881 ENSG00000136881 HGNC:932 BAG3 gene BAG3 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1HH False 3 0;100;0 0.116 False ENSG00000151929 ENSG00000151929 HGNC:939 BCKDHA gene BCKDHA Expert Review Green Molecular autopsy 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 0.116 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green Molecular autopsy 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 0.116 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency 27604308;22956686 False 3 0;0;0 0.116 False ENSG00000103507 ENSG00000103507 HGNC:16902 BCS1L gene BCS1L Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of iron homeostasis;Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366);Multiple Mitochondrial Dysfunctions Syndrome;Multiple mitochondrial dysfunctions syndrome 2, 614299;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;0 0.116 False ENSG00000163170 ENSG00000163170 HGNC:24415 BRAF gene BRAF Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM;LEOPARD Syndrome;Cardiofaciocutaneous Syndrome;LEOPARD syndrome 3;Noonan Syndrome;Cardio-facio-cutaneous syndrome PMID: 19206169;21396583 False 3 0;100;0 0.116 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 BTD gene BTD Expert Review Green Molecular autopsy 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;0 0.116 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Green Molecular autopsy 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));Spastic paraplegia 55, autosomal recessive, 615035;Combined oxidative phosphorylation deficiency 7, 613559 27604308 False 3 0;0;0 0.116 False ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism);Neurodegeneration with brain iron accumulation 4, 614298;Mitochondrial Membrane Protein-Associated Neurodegeneration 27604308 False 3 0;0;0 0.116 False ENSG00000131943 ENSG00000131943 HGNC:25443 C1QBP gene C1QBP Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM#617713;Combined oxidative phosphorylation deficiency 33 617713 28942965 False 3 0;0;0 0.116 False ENSG00000108561 ENSG00000108561 HGNC:1243 CA5A gene CA5A Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency;Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 0.116 False ENSG00000174990 ENSG00000174990 HGNC:1377 CACNA1C gene CACNA1C Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 3 611875;syncope;Hypertrophic cardiomyopathy;Timothy syndrome (601005);scd;brugada syndrome;short qt;Brugada syndrome;Brugada syndrome 3 (611875);Brugada syndrome 3;Long QT syndrome 18250309;24291113;16301704 False 3 50;50;0 0.116 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNB2 gene CACNB2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 4;Brugada syndrome 4 (611876);Short QT syndrome 5;brugada syndrome;Brugada syndrome 4 611876;short qt 17224476;30420954;27761167;19862833;16301704 False 3 0;50;50 0.116 False ENSG00000165995 ENSG00000165995 HGNC:1402 CALM1 gene CALM1 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 4;Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916);Long QT syndrome 14;Long QT syndrome 14 (616247) 27761157;19121813;19862833;30420954;16301704 False 3 50;50;0 0.116 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome 15 27100291;24917665;27114410 False 3 0;0;0 0.116 False ENSG00000143933 ENSG00000143933 HGNC:1445 CASQ2 gene CASQ2 Expert Review Green;London South GLH;North West GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2;Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938);Catecholaminergic polymorphic ventricular tachycardia;Left ventricular non-compaction;Hypertrophic cardiomyopathy 27761157;19121813 False 3 50;50;0 0.116 False ENSG00000118729 ENSG00000118729 HGNC:1513 CAT gene CAT Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acatalasaemia (Other peroxisomal disorders);Acatalasemia, 614097 27604308 False 3 0;0;0 0.116 False ENSG00000121691 ENSG00000121691 HGNC:1516 CBL gene CBL Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 20543203;19571318;PMID: 20619386 False 3 0;100;0 0.116 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CBS gene CBS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types False 3 0;0;0 0.116 False ENSG00000160200 ENSG00000160200 HGNC:1550 CCDC115 gene CCDC115 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo 616828 26833332 False 3 0;0;0 0.116 False ENSG00000136710 ENSG00000136710 HGNC:28178 CHCHD10 gene CHCHD10 Expert Review Green Molecular autopsy 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 False 3 0;0;0 0.116 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHKB gene CHKB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Choline kinase deficiency (Disorders of complex lipid synthesis);Congenital Muscular Dystrophy, CKHB-related;Muscular dystrophy, congenital, megaconial type, 602541 27604308 False 3 0;0;0 0.116 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHST14 gene CHST14 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000131873 ENSG00000131873 HGNC:17198 CLN3 gene CLN3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, 204200 False 3 0;0;0 0.116 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, 256731 False 3 0;0;0 0.116 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 False 3 0;0;0 0.116 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 False 3 0;0;0 0.116 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLPB gene CLPB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis;cataract, neutropenia, epilepsy;congenital microcephaly and severe encephalopathy;progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder 25597510;25597511;25650066;25595726 False 3 0;0;0 0.116 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 False 3 0;0;0 0.116 False ENSG00000125656 ENSG00000125656 HGNC:2084 CNNM2 gene CNNM2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000148842 ENSG00000148842 HGNC:103 COG1 gene COG1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL12A1 gene COL12A1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2 27348394 - heterozygous variant identified in affected proband with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. The variant was not present in mother but unable to confirm that it was de novo and absent in the father;24334604 - 2 brothers were homozygous for a variant, with heterozygous parents with milder symptoms, and a boy from a seperate family with a de novo heterozygous variant reported. COL12A1 inactivated gene in mouse model showed decreased grip strength, delay in fiber-type transition and deficiency in passive force generation;24334769 - two families reported with autosomal dominant variant segregating with Bethlem myopathy. False 3 0;0;0 0.116 False ENSG00000111799 ENSG00000111799 HGNC:2188 COL6A1 gene COL6A1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090 False 3 0;0;0 0.116 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090 False 3 0;0;0 0.116 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy, 158810;Ullrich congenital muscular dystrophy, 254090 False 3 0;0;0 0.116 False ENSG00000163359 ENSG00000163359 HGNC:2213 COQ2 gene COQ2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal {Multiple system atrophy, susceptibility to}, 146500;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, 1, 607426 27604308 False 3 0;0;0 0.116 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 7 27604308 False 3 0;0;0 0.116 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8A gene COQ8A Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 24270420 False 3 0;0;0 0.116 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency;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) 27604308 False 3 0;0;0 0.116 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX14 gene COX14 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX15 gene COX15 Expert Review Green;London South GLH Molecular autopsy 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);Leigh syndrome due to cytochrome c oxidase deficiency, 256000;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 27604308 False 3 0;100;0 0.116 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 3 0;0;0 0.116 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6B1 gene COX6B1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex IV deficiency;Cytochrome c oxidase deficiency, 220110 27604308 False 3 0;0;0 0.116 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA WITH LINEAR SKIN LESIONS;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex IV deficiency;Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887;Linear skin defects with multiple congenital anomalies 27604308 False 3 0;0;0 0.116 False ENSG00000131174 ENSG00000131174 HGNC:2291 CP gene CP Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, 604290;Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 3 0;0;0 0.116 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPOX gene CPOX Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harderoporphyria 121300;Coproporphyria 121300;Hereditary coproporphyria (Acute neuropathic porphyrias) 27604308 False 3 0;0;0 0.116 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPS1 gene CPS1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert Review Green Molecular autopsy 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;0 0.116 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type II 600649;CPT II deficiency, lethal neonatal 608836;Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000157184 ENSG00000157184 HGNC:2330 CSRP3 gene CSRP3 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 12 (612124);?Cardiomyopathy, dilated, 1M (607482);Cardiomyopathy, familial hypertrophic, 12;Cardiomyopathy, dilated, 1M 27532257;18505755;28369730 False 3 50;50;0 0.116 False ENSG00000129170 ENSG00000129170 HGNC:2472 CTH gene CTH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Cystathioninuria, 219500 False 3 0;0;0 0.116 False ENSG00000116761 ENSG00000116761 HGNC:2501 CTNS gene CTNS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219750 False 3 0;0;0 0.116 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Galactosialidosis 27604308 False 3 0;0;0 0.116 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 False 3 0;0;0 0.116 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis 27604308 False 3 0;0;0 0.116 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN Expert Review Green Molecular autopsy 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 0.116 False ENSG00000107611 ENSG00000107611 HGNC:2548 CYC1 gene CYC1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 6, 615453 False 3 0;0;0 0.116 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYP27A1 gene CYP27A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 27604308 False 3 0;0;0 0.116 False ENSG00000135929 ENSG00000135929 HGNC:2605 D2HGDH gene D2HGDH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria 27604308 False 3 0;0;0 0.116 False ENSG00000180902 ENSG00000180902 HGNC:28358 DAG1 gene DAG1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9;Walker-Warburg syndrome;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538;congenital muscular dystrophies 22810924 (functional evidence);26380289 (review of mouse models);25934851;24052401 False 3 0;0;0 0.116 False ENSG00000173402 ENSG00000173402 HGNC:2666 DARS gene DARS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity False 3 0;0;0 0.116 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBH gene DBH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency False 3 0;0;0 0.116 False ENSG00000123454 ENSG00000123454 HGNC:2689 DBT gene DBT Expert Review Green Molecular autopsy 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 0.116 False ENSG00000137992 ENSG00000137992 HGNC:2698 DDC gene DDC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000132437 ENSG00000132437 HGNC:2719 DES gene DES Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Scapuloperoneal syndrome, neurogenic, Kaeser type (181400);Cardiomyopathy, dilated, 1I, (604765);Cardiomyopathy, dilated, 1I,;Myopathy, myofibrillar, 1 (601419) 27532257;20186049 False 3 50;50;0 0.116 False ENSG00000175084 ENSG00000175084 HGNC:2770 DGUOK gene DGUOK Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHFR gene DHFR Expert Review Green Molecular autopsy 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 0.116 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHTKD1 gene DHTKD1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism);2-aminoadipic and 2-oxoadipic aciduria, 204750;2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000181192 ENSG00000181192 HGNC:23537 DLAT gene DLAT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism);Pyruvate dehydrogenase E2 deficiency, 245348 27604308 False 3 0;0;0 0.116 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism);Leigh syndrome;Dihydrolipoamide dehydrogenase deficiency, 246900 27604308 False 3 0;0;0 0.116 False ENSG00000091140 ENSG00000091140 HGNC:2898 DMD gene DMD Expert Review Green;London South GLH Molecular autopsy 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;Becker muscular dystrophy, 300376;Dilated Cardiomyopathy, X-Linked;Cardiomyopathy, dilated, 3B False 3 0;100;0 0.116 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNA2 gene DNA2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC12 gene DNAJC12 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 28132689 False 3 0;0;0 0.116 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198;Disorders of the mitochondrial import system;dilated cardiomyopathy with ataxia syndrome;3-methylglutaconic aciduria, type V 16055927;27604308;27426421;22797137;27928778 False 3 0;100;0 0.116 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 27604308;21820099 False 3 0;0;0 0.116 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNM1L gene DNM1L Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000087470 ENSG00000087470 HGNC:2973 DOLK gene DOLK Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im 610768;syndromic DCM;Congenital disorder of glycosylation, type Im;Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 17273964;22242004;23890587 False 3 0;100;0 0.116 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type Ie;Congenital disorder of glycosylation, type Ie 608799;congenital muscular dystrophies 27604308 False 3 0;0;0 0.116 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu 615042;musclular dystrophy dystroglycanopathy syndrome with severe epilepsy;Congenital disorder of glycosylation, type Iu 615042 23109149;19901254 False 3 0;0;0 0.116 False ENSG00000136908 ENSG00000136908 HGNC:3006 DPYD gene DPYD Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency 274270;Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000147647 ENSG00000147647 HGNC:3013 DSC2 gene DSC2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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 False 3 50;50;0 0.116 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 10 (610193);Cardiomyopathy, dilated, 1BB (612877);Cardiomyopathy, dilated, 1BB,;Arrhythmogenic right ventricular dysplasia 10 27532257;23500315 False 3 50;50;0 0.116 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy with woolly hair and keratoderma;Keratosis palmoplantaris striata II (612908);Skin fragility-woolly hair syndrome (607655);Arrhythmogenic right ventricular dysplasia 8 (607450);Epidermolysis bullosa, lethal acantholytic (609638);Arrhythmogenic right ventricular dysplasia 8;Cardiomyopathy, dilated, with woolly hair and keratoderma (605676);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) 27532257;23500315 False 3 50;50;0 0.116 False ENSG00000096696 ENSG00000096696 HGNC:3052 DYM gene DYM Expert Review Green Molecular autopsy 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;0;0 0.116 False ENSG00000141627 ENSG00000141627 HGNC:21317 EARS2 gene EARS2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000103356 ENSG00000103356 HGNC:29419 EBP gene EBP Expert Review Green Molecular autopsy 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 0.116 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECHS1 gene ECHS1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency False 3 0;0;0 0.116 False ENSG00000127884 ENSG00000127884 HGNC:3151 ELAC2 gene ELAC2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000006744 ENSG00000006744 HGNC:14198 ENO3 gene ENO3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XIII 27604308;25267339;11506403;25929793 False 3 0;0;0 0.116 False ENSG00000108515 ENSG00000108515 HGNC:3354 EPG5 gene EPG5 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora) 27604308 False 3 0;0;0 0.116 False ENSG00000112425 ENSG00000112425 HGNC:3413 ETFA gene ETFA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation);Glutaric acidemia IIA 27604308 False 3 0;0;0 0.116 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB;Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) 27604308 False 3 0;0;0 0.116 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis;GLUTARIC ACIDURIA TYPE 2C;Glutaric acidemia IIC;ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXT1 gene EXT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);Exostoses, multiple, type 1 133700 27604308 False 3 0;0;0 0.116 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000151348 ENSG00000151348 HGNC:3513 EYA4 gene EYA4 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Cardiomyopathy, dilated, 1J (605362);Cardiomyopathy, dilated, 1J;Deafness, autosomal dominant 10 (601316) 27532257;15735644 False 3 0;50;50 0.116 False ENSG00000112319 ENSG00000112319 HGNC:3522 FA2H gene FA2H Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Fatty acid 2-hydroxylase deficiency (Disorders of complex lipid synthesis);Early onset dystonia;Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism);Hereditary spastic paraplegia 27604308 False 3 0;0;0 0.116 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAH gene FAH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I 27604308 False 3 0;0;0 0.116 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAR1 gene FAR1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 False 3 0;0;0 0.116 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency;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 0;0;0 0.116 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBP1 gene FBP1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal fatal encephalopathy, lactic acidosis, and severe MTDNA depletion in muscle.;Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 False 3 0;0;0 0.116 False ENSG00000112234 ENSG00000112234 HGNC:13601 FDXR gene FDXR Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy 617717 28965846 False 3 0;0;0 0.116 False ENSG00000161513 ENSG00000161513 HGNC:3642 FH gene FH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, 606812;Fumarase deficiency (Disorders of the citric acid cycle) 27604308 False 3 0;0;0 0.116 False ENSG00000091483 ENSG00000091483 HGNC:3700 FHL1 gene FHL1 Expert Review Green;London South GLH;North West GLH Molecular autopsy 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 False 3 50;50;0 0.116 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKRP gene FKRP Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 27604308 False 3 0;100;0 0.116 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Fukuyama congenital muscular dystrophy;Cardiomyopathy, dilated, 1X;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Dilated Cardiomyopathy, Recessive;Fukuyama Congenital Muscular Dystrophy;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;100;0 0.116 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Multiple acyl-CoA dehydrogenase deficiencies (MADDs) PubMed: 27259049 False 3 0;0;0 0.116 False ENSG00000160688 ENSG00000160688 HGNC:24671 FMO3 gene FMO3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308 False 3 0;0;0 0.116 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOLR1 gene FOLR1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXRED1 gene FOXRED1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;syndromic HCM;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 0;0;0 0.116 False ENSG00000110074 ENSG00000110074 HGNC:26927 FUCA1 gene FUCA1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000 False 3 0;0;0 0.116 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUT8 gene FUT8 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 29304374 False 3 0;0;0 0.116 False ENSG00000033170 ENSG00000033170 HGNC:4019 G6PC gene G6PC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease Type I;Glycogen Storage Disorders- Liver;Glycogen Storage Disease;Glycogen Storage Disease Ia;Glycogen storage disease Ia, 232200;Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders);Glycogen storage disease Ia;fasting intolerance with enlarged liver, renal tubular disease 27604308 False 3 0;0;0 0.116 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Dursun syndrome False 3 0;0;0 0.116 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal syndromic HCM;Glycogen storage disease II, 232300 False 3 0;100;0 0.116 False ENSG00000171298 ENSG00000171298 HGNC:4065 GABRG2 gene GABRG2 Expert Review Green Molecular autopsy 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 16510738;23708187;15342642 False 3 0;0;0 0.116 False ENSG00000113327 ENSG00000113327 HGNC:4087 GALC gene GALC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Krabbe disease 27604308 False 3 0;0;0 0.116 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200 False 3 0;0;0 0.116 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4A;MPS IVA, Morquio A disease (MPS IV, Morquio disease);Mucopolysaccharidosis Type IVA;Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis, Type IV 27604308 False 3 0;0;0 0.116 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT3 gene GALNT3 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Classical galactosaemia (Disorders of galactose metabolism);Galactosemia;Cataracts 27604308 False 3 0;0;0 0.116 False ENSG00000213930 ENSG00000213930 HGNC:4135 GARS gene GARS Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000106105 ENSG00000106105 HGNC:4162 GATM gene GATM Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA Expert Review Green Molecular autopsy 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 0.116 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, 232500;Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease type IV, Andersen (Glycogen storage disorders);Glycogen Storage Disorders- Muscle;Glycogen Storage Disease Type IV;failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties;Polyglucosan body disease, adult form, 263570 27604308 False 3 0;0;0 0.116 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I, 231670 False 3 0;0;0 0.116 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 27604308 False 3 0;0;0 0.116 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCLC gene GCLC Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000001084 ENSG00000001084 HGNC:4311 GDAP1 gene GDAP1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot Marie Tooth disease (CMT4A);Charcot-Marie-Tooth disease, type 4A;Charcot-Marie-Tooth disease, recessive intermediate, A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis;Charcot-Marie-Tooth disease, axonal, type 2K PMID: 11743579 False 3 0;0;0 0.116 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFER gene GFER Expert Review Green Molecular autopsy 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)) 19409522;PMID: 26018198 False 3 0;0;0 0.116 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFPT1 gene GFPT1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000198380 ENSG00000198380 HGNC:4241 GIF gene GIF Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000134812 ENSG00000134812 HGNC:4268 GLA gene GLA Expert Review Green;London South GLH;North West GLH Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) syndromic HCM;Fabry disease, cardiac variant (301500);Fabry disease, cardiac variant, 301500;Fabry disease (301500);Fabry disease, 301500;Fabry disease (Sphingolipidoses);Fabry Disease 27532257;28369730 False 3 50;50;0 0.116 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal syndromic HCM;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 0.116 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 False 3 0;0;0 0.116 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLRA1 gene GLRA1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 False 3 0;0;0 0.116 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRX5 gene GLRX5 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of iron homeostasis;Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;0 0.116 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLUD1 gene GLUD1 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias);Hyperinsulinism-hyperammonemia syndrome, 606762 27604308 False 3 0;0;0 0.116 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 GLYCTK gene GLYCTK Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120;D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750 False 3 0;0;0 0.116 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPB gene GMPPB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 23768512;26133662 False 3 0;0;0 0.116 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy 605820;ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);UDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Sialuria (Other lysosomal disorders) 26721333 False 3 0;0;0 0.116 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNPAT gene GNPAT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders);Rhizomelic chondrodysplasia punctata, type 2 222765 27604308 False 3 0;0;0 0.116 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green Molecular autopsy 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 0.116 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green Molecular autopsy 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 0.116 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses);Mucopolysaccharidosis Type IIID;Mucopolysaccharidosis type IIID, 252940;Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III 27604308 False 3 0;0;0 0.116 False ENSG00000135677 ENSG00000135677 HGNC:4422 GPD1 gene GPD1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypertriglyceridemia, transient infantile, 614480 24549054;22226083 False 3 0;0;0 0.116 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPD1L gene GPD1L Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2 (611777);Brugada syndrome 2 30420954;27761167;19862833;19666841;16301704 False 3 0;50;50 0.116 False ENSG00000152642 ENSG00000152642 HGNC:28956 GPHN gene GPHN Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C 615501;Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism);epileptic encephalopathy 27604308 False 3 0;0;0 0.116 False ENSG00000171723 ENSG00000171723 HGNC:15465 GRHPR gene GRHPR Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Primary hyperoxaluria type II (Disorders of glyoxylate metabolism);Hyperoxaluria, primary, type II 27604308 False 3 0;0;0 0.116 False ENSG00000137106 ENSG00000137106 HGNC:4570 GSS gene GSS Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000100983 ENSG00000100983 HGNC:4624 GTPBP3 gene GTPBP3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23;mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 3 0;0;0 0.116 False ENSG00000130299 ENSG00000130299 HGNC:14880 GUSB gene GUSB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal syndromic HCM;Mucopolysaccharidosis Type VII;MPS VII, Sly disease (MPS IV, Morquio disease);Mucopolysaccharidosis VII, 253220;Mucopolysaccharidosis, Type VII;MUCOPOLYSACCHARIDOSIS TYPE 7 27604308 False 3 0;0;0 0.116 False ENSG00000169919 ENSG00000169919 HGNC:4696 GYG1 gene GYG1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV False 3 0;0;0 0.116 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle 27604308;21958591;24579562 False 3 0;0;0 0.116 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000111713 ENSG00000111713 HGNC:4707 HAAO gene HAAO Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations;VACTERL-like phenotype 27604308;17334708;28792876 False 3 0;0;0 0.116 False ENSG00000162882 ENSG00000162882 HGNC:4796 HADHA gene HADHA Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 0;100;0 0.116 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 0;0;0 0.116 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313;Hemochromatosis, type 2B 613313;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000105697 ENSG00000105697 HGNC:15598 HCCS gene HCCS Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 False 3 0;0;0 0.116 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCN4 gene HCN4 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sick sinus syndrome 2 (163800);Brugada syndrome 8;Brugada syndrome 8 (613123) 30420954;27761167;19862833;16301704 False 3 50;50;0 0.116 False ENSG00000138622 ENSG00000138622 HGNC:16882 HEXA gene HEXA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 False 3 0;0;0 0.116 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, 268800 27604308 False 3 0;0;0 0.116 False ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, 235200;Hemochromatosis;Hereditary haemochromatosis Type 1 (Disorder of iron metabolism) 27604308 False 3 0;100;0 0.116 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Alkaptonuria 27604308 False 3 0;0;0 0.116 False ENSG00000113924 ENSG00000113924 HGNC:4892 HGSNAT gene HGSNAT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Retinitis Pigmentosa 73;Mucopolysaccharidosis Type IIIC;Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930;MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) 27604308 False 3 0;0;0 0.116 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620;HIBCH deficiency;Methacrylic aciduria (Organic acidurias) 27604308 False 3 0;0;0 0.116 False ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270;Holocarboxylase synthetase deficiency;lactic acidosis with seizures and eczema, immune deficiency;Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, nonerythroid variant, 176000;Acute intermittent porphyria (Acute neuropathic porphyrias);Porphyria, acute intermittent, 176000 27604308 False 3 0;0;0 0.116 False ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL Expert Review Green Molecular autopsy 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 8617516;28583327;9463337;11129331 False 3 0;0;0 0.116 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000134240 ENSG00000134240 HGNC:5008 HOGA1 gene HOGA1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPRT1 gene HPRT1 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females HPRT-related gout 27604308 False 3 0;0;0 0.116 False ENSG00000165704 ENSG00000165704 HGNC:5157 HRAS gene HRAS Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome;syndromic HCM 16443854;PMID: 16170316;16969868;21396583 False 3 0;100;0 0.116 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 HSD17B4 gene HSD17B4 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSPD1 gene HSPD1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Leukodystrophy, hypomyelinating, 4, 612233;Spastic paraplegia 13, autosomal dominant, 605280 27604308 False 3 0;0;0 0.116 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII 617248 27208207;27696117 False 3 0;0;0 0.116 False ENSG00000115317 ENSG00000115317 HGNC:14348 HYAL1 gene HYAL1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Mucopolysaccharidosis type IX, 601492;MPS IX, Natowicz (MPS IV, Morquio disease) 27604308 False 3 0;0;0 0.116 False ENSG00000114378 ENSG00000114378 HGNC:5320 IARS2 gene IARS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S);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 0;0;0 0.116 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Multiple mitochondrial dysfunctions syndrome 3, 615330;?Spastic paraplegia 74, autosomal recessive 23462291;25971455 False 3 0;0;0 0.116 False ENSG00000181873 ENSG00000181873 HGNC:27302 IDH2 gene IDH2 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown D-2-hydroxyglutaric aciduria 2;Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias);D-2-hydroxyglutaric aciduria 2, 613657 24049096;20847235 False 3 0;0;0 0.116 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDS gene IDS Expert Review Green Molecular autopsy 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 0.116 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green Molecular autopsy 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 0.116 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 24138066;22991235;21835305 False 3 0;0;0 0.116 False ENSG00000134049 ENSG00000134049 HGNC:18550 INPP5K gene INPP5K Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy;Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment 28190456;28190459 False 3 0;0;0 0.116 False ENSG00000132376 ENSG00000132376 HGNC:33882 ISPD gene ISPD Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 614643;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7;Congenital Muscular Dystrophy, alpha-dystroglycan related;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;616052;Walker-Warburg syndrome (WWS);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 26404900;26687144 False 3 0;0;0 0.116 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA7 gene ITGA7 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204;Congenital Muscular Dystrophy, ITGA7-related 26076707;18045857;9590299 False 3 0;0;0 0.116 False ENSG00000135424 ENSG00000135424 HGNC:6143 ITPA gene ITPA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Inosine triphosphatase deficiency (Disorders of purine metabolism);Epileptic encephalopathy, early infantile, 35, 616647;[Inosine triphosphatase deficiency], 613850 27604308 False 3 0;0;0 0.116 False ENSG00000125877 ENSG00000125877 HGNC:6176 IVD gene IVD Expert Review Green Molecular autopsy 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 0.116 False ENSG00000128928 ENSG00000128928 HGNC:6186 JUP gene JUP Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 12;Arrhythmogenic right ventricular dysplasia 12 (611528);Naxos disease (601214) 27532257;23500315 False 3 50;50;0 0.116 False ENSG00000173801 ENSG00000173801 HGNC:6207 KARS gene KARS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate, B, 613641;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Deafness, autosomal recessive 89, 613916;Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;28887846, 25330800, 29615062, 30252186, 28496994 False 3 0;0;0 0.116 False ENSG00000065427 ENSG00000065427 HGNC:6215 KCNE1 gene KCNE1 Expert Review Green;London South GLH;North West GLH Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2 (612347);Catecholaminergic polymorphic ventricular tachycardia;Long QT syndrome;Long QT syndrome-5;Long QT syndrome-5 (613695) 16301704;19716085;26168993 False 3 50;50;0 0.116 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 (613693);Atrial fibrillation, familial, 4 (611493);Long QT syndrome-6 19716085;16301704 False 3 50;50;0 0.116 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome;?Brugada syndrome 6 (613119);Brugada syndrome 6;Long QT syndrome 19122847;27761167;16301704 False 3 50;50;0 0.116 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNH2 gene KCNH2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada;Brugada/Brugada like syndrome;Short QT syndrome 1 (609620);ventricular fibrillation;atrial fibrillation;cardiac arrest;Short QT syndrome 1 609620;Long QT syndrome-2 (613688);Long QT syndrome 2 613688;short qt;Long QT syndrome-2 19716085;16226079;16301704 False 3 50;50;0 0.116 False Other - please provide details in the comments ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 9 (613980);Short QT syndrome 3 609622;LONG QT SYNDROME 7 (170390);Short QT syndrome 3 (609622);catecholaminergic polymorphic ventricular tachycardia;ANDERSEN SYNDROME (170390);Andersen syndrome (170390);ventricular tacyarrhythmia;short qt;atrial fibrillation 19716085;27761157;16226079;16301704 False 3 50;50;0 0.116 False Other - please provide details in the comments ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485);Long QT syndrome 13 19716085;30420954;19862833;16301704 False 3 50;50;0 0.116 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNQ1 gene KCNQ1 Expert Review Green;London South GLH;North West GLH Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Short QT syndrome 2 609621;Long QT syndrome-1 (192500);Short QT syndrome;Hypertrophic cardiomyopathy;Atrial fibrillation, familial, 3 (607554);Long QT syndrome-1;Short QT syndrome 2 (609621);Idiopathic Ventricular Fibrillation;Short QT-interval syndrome;Jervell and Lange-Nielsen syndrome (220400);Long QT syndrome 19716085;16226079;16301704 False 3 50;50;0 0.116 False ENSG00000053918 ENSG00000053918 HGNC:6294 KRAS gene KRAS Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 2;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;Noonan syndrome 3;Noonan syndrome;CFC syndrome PMID: 21396583 False 3 0;100;0 0.116 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 Expert Review Green Molecular autopsy 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;0 0.116 False ENSG00000115919 ENSG00000115919 HGNC:6469 L2HGDH gene L2HGDH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 27604308 False 3 0;0;0 0.116 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA2 gene LAMA2 Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, LAMA2-related;Muscular dystrophy, congenital merosin-deficient, 607855;Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 False 3 0;100;0 0.116 False ENSG00000196569 ENSG00000196569 HGNC:6482 LAMP2 gene LAMP2 Expert Review Green;London South GLH;North West GLH Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease;Danon disease (300257);syndromic HCM 27532257;28369730 False 3 50;50;0 0.116 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, alpha-dystroglycan related;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);Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 27604308 False 3 0;0;0 0.116 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARS2 gene LARS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Perrault syndrome;Perrault syndrome 4, 615300;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 0;0;0 0.116 False ENSG00000011376 ENSG00000011376 HGNC:17095 LCAT gene LCAT Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000213398 ENSG00000213398 HGNC:6522 LCT gene LCT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Lactose intolerance (Other carbohydrate disorders);Lactase deficiency, congenital, 223000 27604308 False 3 0;0;0 0.116 False ENSG00000115850 ENSG00000115850 HGNC:6530 LDB3 gene LDB3 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated 1C;Left ventricular noncompaction 3, with or without dilated cardiomyopathy False 3 0;100;0 0.116 False ENSG00000122367 ENSG00000122367 HGNC:15710 LDHA gene LDHA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen storage disease XI, 612933;Muscle LDH deficiency (Glycogen storage disorders) 27604308 False 3 0;0;0 0.116 False ENSG00000134333 ENSG00000134333 HGNC:6535 LIAS gene LIAS Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIPA gene LIPA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease 27604308 False 3 0;0;0 0.116 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPT1 gene LIPT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency False 3 0;0;0 0.116 False ENSG00000144182 ENSG00000144182 HGNC:29569 LMBRD1 gene LMBRD1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, 277380 27604308 False 3 0;0;0 0.116 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMNA gene LMNA Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350);Lipodystrophy, familial partial, type 2 (151660);Malouf syndrome (212112);Mandibuloacral dysplasia (248370);Cardiomyopathy, dilated, 1A (115200);Muscular dystrophy, congenital (613205);Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic;Hutchinson-Gilford progeria (176670);Heart-hand syndrome, Slovenian type (610140);Emery-Dreifuss muscular dystrophy 2, AD, 181350;Cardiomyopathy, dilated, 1A;Charcot-Marie-Tooth disease, type 2B1 (605588);Restrictive dermopathy, lethal (275210);Congenital Muscular Dystrophy, LMNA-related (Dominant);Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516) 27532257;20186049 False 3 50;50;0 0.116 False ENSG00000160789 ENSG00000160789 HGNC:6636 LONP1 gene LONP1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) PMID: 25574826;PMID: 25808063 False 3 0;0;0 0.116 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN1 gene LPIN1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive 27604308 False 3 0;0;0 0.116 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPL gene LPL Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000175445 ENSG00000175445 HGNC:6677 LRPPRC gene LRPPRC Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000138095 ENSG00000138095 HGNC:15714 LZTR1 gene LZTR1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal cardiac findings;Noonan syndrome 10;increased nuchal translucency;Prenatal hydrops 25795793;29469822 False 3 0;0;0 0.116 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAN1B1 gene MAN1B1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal MAN1B1-CDG (Disorders of protein N-glycosylation);Mental retardation, autosomal recessive 15 614202 27604308 False 3 0;0;0 0.116 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II 27604308 False 3 0;0;0 0.116 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAP2K1 gene MAP2K1 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM;LEOPARD syndrome;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome;Cardiofaciocutaneous syndrome 3;?Noonan syndrome PMID: 21396583;23321623 (publication referring to Noonan syndrome association). False 3 0;100;0 0.116 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 MAP2K2 gene MAP2K2 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome;Cardio-Facio-Cutaneous syndrome type 4;Cardiofaciocutaneous syndrome 4 PMID: 21396583;23379592 False 3 0;100;0 0.116 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 MARS2 gene MARS2 Expert Review Green Molecular autopsy 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 25754315;PMID: 22448145 False 3 0;0;0 0.116 False ENSG00000247626 ENSG00000247626 HGNC:25133 MAT1A gene MAT1A Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCCC1 gene MCCC1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 27604308 False 3 0;0;0 0.116 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Expert Review Green Molecular autopsy 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 0.116 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type IV;Mucolipidosis IV (Other lysosomal disorders) 27604308 False 3 0;0;0 0.116 False ENSG00000090674 ENSG00000090674 HGNC:13356 MDH2 gene MDH2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51 617339 27989324 False 3 0;0;0 0.116 False ENSG00000146701 ENSG00000146701 HGNC:6971 MFF gene MFF Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2A2, 609260;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Hereditary motor and sensory neuropathy VI, 601152 27604308 False 3 0;0;0 0.116 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 610951 False 3 0;0;0 0.116 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal myopathy with extrapyramidal signs False 3 0;0;0 0.116 False ENSG00000107745 ENSG00000107745 HGNC:1530 MLYCD gene MLYCD Expert Review Green Molecular autopsy 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 0.116 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert Review Green Molecular autopsy 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 0.116 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green Molecular autopsy 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 0.116 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 27604308 False 3 0;0;0 0.116 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 False 3 0;0;0 0.116 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOGS gene MOGS Expert Review Green Molecular autopsy 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)) 4716661;24716661;20301507;26805780 False 3 0;0;0 0.116 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If 609180;Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308 False 3 0;0;0 0.116 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ib 602579 10980531 False 3 0;0;0 0.116 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRPL44 gene MRPL44 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25797485;23315540 False 3 0;0;0 0.116 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPS22 gene MRPS22 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32 617664 28777931 False 3 0;0;0 0.116 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSMO1 gene MSMO1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis);(SC4MOL DEFICIENCY);Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 27604308 False 3 0;0;0 0.116 False ENSG00000052802 ENSG00000052802 HGNC:10545 MT-ATP6 gene MT-ATP6 Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Green Molecular autopsy MITOCHONDRIAL BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO;CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY;CARDIOMYOPATHY, INFANTILE HYPERTROPHIC False 3 0;0;0 0.116 False ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert Review Green Molecular autopsy MITOCHONDRIAL CYTOCHROME c OXIDASE I DEFICIENCY;SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC;LEBER OPTIC ATROPHY;MYOGLOBINURIA, RECURRENT;CYTOCHROME c OXIDASE DEFICIENCY False 3 0;0;0 0.116 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert Review Green Molecular autopsy MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY False 3 0;0;0 0.116 False ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert Review Green Molecular autopsy MITOCHONDRIAL LEBER OPTIC ATROPHY;SEIZURES AND LACTIC ACIDOSIS;MITOCHONDRIAL COMPLEX IV DEFICIENCY False 3 0;0;0 0.116 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Green Molecular autopsy MITOCHONDRIAL CARDIOMYOPATHY, INFANTILE HISTIOCYTOID;ENCEPHALOMYOPATHY, MITOCHONDRIAL;MULTISYSTEM DISORDER;PARKINSONISM/MELAS OVERLAP SYNDROME;EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA;EXERCISE INTOLERANCE;LEBER OPTIC ATROPHY False 3 0;0;0 0.116 False ENSG00000198727 ENSG00000198727 HGNC:7427 MTHFR gene MTHFR Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport);Homocystinuria due to MTHFR deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000177000 ENSG00000177000 HGNC:7436 MT-ND1 gene MT-ND1 Expert Review Green Molecular autopsy MITOCHONDRIAL MELAS SYNDROME;MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;DYSTONIA, ADULT-ONSET;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;SUDDEN INFANT DEATH SYNDROME False 3 0;0;0 0.116 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert Review Green Molecular autopsy MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 0;0;0 0.116 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert Review Green Molecular autopsy MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 0;0;0 0.116 False ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert Review Green Molecular autopsy MITOCHONDRIAL MELAS SYNDROME;LEBER OPTIC ATROPHY AND DYSTONIA;LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 0;0;0 0.116 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert Review Green Molecular autopsy MITOCHONDRIAL LEBER OPTIC ATROPHY False 3 0;0;0 0.116 False ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert Review Green Molecular autopsy MITOCHONDRIAL MELAS SYNDROME;MERRF SYNDROME;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 0;0;0 0.116 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTR gene MTR Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type 27604308 False 3 0;0;0 0.116 False ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR1 gene MT-RNR1 Expert Review Green Molecular autopsy MITOCHONDRIAL DEAFNESS, AMINOGLYCOSIDE-INDUCED;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;AUDITORY NEUROPATHY;CARDIOMYOPATHY, RESTRICTIVE False 3 0;0;0 0.116 False ENSG00000211459 ENSG00000211459 HGNC:7470 MTRR gene MTRR Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type 27604308 False 3 0;0;0 0.116 False ENSG00000124275 ENSG00000124275 HGNC:7473 MT-TA gene MT-TA Expert Review Green Molecular autopsy MITOCHONDRIAL MITOCHONDRIAL MYOPATHY;MYOTONIC DYSTROPHY-LIKE MYOPATHY False 3 0;0;0 0.116 False ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert Review Green Molecular autopsy MITOCHONDRIAL MELAS SYNDROME;DYSTONIA, MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert Review Green Molecular autopsy MITOCHONDRIAL MITOCHONDRIAL MYOPATHY, ISOLATED False 3 0;0;0 0.116 False ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert Review Green Molecular autopsy MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS;DIABETES AND DEAFNESS, MATERNALLY INHERITED;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT False 3 0;0;0 0.116 False ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210135 ENSG00000210135 HGNC:7493 MTTP gene MTTP Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Familial abetalipoproteinaemia (Inherited hypolipidaemias);(ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY);Abetalipoproteinemia, 200100 27604308 False 3 0;0;0 0.116 False ENSG00000138823 ENSG00000138823 HGNC:7467 MT-TP gene MT-TP Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TV gene MT-TV Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert Review Green Molecular autopsy MITOCHONDRIAL False 3 0;0;0 0.116 False ENSG00000210144 ENSG00000210144 HGNC:7502 MUT gene MUT Expert Review Green Molecular autopsy 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 0.116 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYBPC3 gene MYBPC3 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10,;Cardiomyopathy, familial hypertrophic, 4,;Cardiomyopathy, dilated, 1MM (615396) 27532257;28369730 False 3 50;50;0 0.116 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 14 (613251);Atrial septal defect 3 (614089);Cardiomyopathy, dilated, 1EE;{Sick sinus syndrome 3} (614090);Cardiomyopathy, familial hypertrophic, 14;Cardiomyopathy, dilated, 1EE (613252) 15998695;27532257;22194935 False 3 0;50;50 0.116 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 5 (613426);Myopathy, myosin storage, autosomal dominant (608358);Cardiomyopathy, familial hypertrophic, 1,;Hypertrophic cardiomyopathy;Laing distal myopathy (160500);Cardiomyopathy, dilated, 1S;Myopathy, myosin storage, autosomal recessive (255160);Cardiomyopathy, hypertrophic, 1 (192600);Left ventricular noncompaction 5;Cardiomyopathy, dilated, 1S (613426);Scapuloperoneal syndrome, myopathic type (181430) 27532257;20186049;28369730 False 3 50;50;0 0.116 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 10;Cardiomyopathy, familial hypertrophic, 10 (608758) 27532257;28369730 False 3 50;50;0 0.116 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 8,;Cardiomyopathy, familial hypertrophic, 8 (608751) 27532257;28369730 False 3 50;50;0 0.116 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYMK gene MYMK Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome 28681861 False 3 0;0;0 0.116 False ENSG00000187616 ENSG00000187616 HGNC:33778 NAGA gene NAGA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Kanzaki disease False 3 0;0;0 0.116 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green Molecular autopsy 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 0.116 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias);N-acetylglutamate synthase deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000161653 ENSG00000161653 HGNC:17996 NARS2 gene NARS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 24 25629079;PMID: 25385316;25807530 False 3 0;0;0 0.116 False ENSG00000137513 ENSG00000137513 HGNC:26274 NDUFA1 gene NDUFA1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA2 gene NDUFA2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF1 gene NDUFAF1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Respiratory Chain Complex I Deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Green Molecular autopsy 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 18940309;PMID: 19542079 False 3 0;0;0 0.116 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green Molecular autopsy 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 26741492;18614015;27623250 False 3 0;0;0 0.116 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFB11 gene NDUFB11 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) histiocytoid cardiomyopathy;microphthalmia with linear skin defects syndrome;Linear skin defects with multiple congenital anomalies 3;Isolated complex I deficiency False 3 0;0;0 0.116 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFS1 gene NDUFS1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain 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);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEU1 gene NEU1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sialidosis type II;Sialidosis, type I;Sialidosis (Oligosaccharidoses);Mucolipidosis, Type I;Sialidosis 27604308 False 3 0;0;0 0.116 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEXN gene NEXN Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1CC;Cardiomyopathy, dilated, 1CC (613122);Cardiomyopathy, familial hypertrophic, 20,;Cardiomyopathy, hypertrophic, 20 (613876) 27532257;28369730;20970104 False 3 50;50;0 0.116 False ENSG00000162614 ENSG00000162614 HGNC:29557 NF1 gene NF1 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Neurofibromatosis syndrome 1;Neurofibromatosis-Noonan Syndrome;Neurofibromatosis Noonan syndrome 19845691;12707950;PMID: 16380919 False 3 0;0;0 0.116 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFU1 gene NFU1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;0 0.116 False ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 27604308 False 3 0;0;0 0.116 False ENSG00000187566 ENSG00000187566 HGNC:21576 NPC1 gene NPC1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1 27604308 False 3 0;0;0 0.116 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2, 607625 27604308 False 3 0;0;0 0.116 False ENSG00000119655 ENSG00000119655 HGNC:14537 NRAS gene NRAS Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 6;CFC Syndrome;Noonan syndrome;Cardio-Facio-cutanenous syndrome;syndromic HCM 19775298;PMID: 19966803 False 3 0;100;0 0.116 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 NSDHL gene NSDHL Expert Review Green Molecular autopsy 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 0.116 False ENSG00000147383 ENSG00000147383 HGNC:13398 NT5C3A gene NT5C3A Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency, 266120;Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000122643 ENSG00000122643 HGNC:17820 NUBPL gene NUBPL Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex I Deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000151413 ENSG00000151413 HGNC:20278 OAT gene OAT Expert Review Green Molecular autopsy 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 0.116 False ENSG00000065154 ENSG00000065154 HGNC:8091 OPA1 gene OPA1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy plus syndrome, 125250;{Glaucoma, normal tension, susceptibility to}, 606657;Disorders of mitochondrial DNA maintenance and integrity;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Optic atrophy 1, 165500;Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;0 0.116 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300;Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) 27604308 False 3 0;0;0 0.116 False ENSG00000125741 ENSG00000125741 HGNC:8142 OTC gene OTC Expert Review Green Molecular autopsy 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 0.116 False ENSG00000036473 ENSG00000036473 HGNC:8512 OXCT1 gene OXCT1 Expert Review Green Molecular autopsy 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;0 0.116 False ENSG00000083720 ENSG00000083720 HGNC:8527 PAH gene PAH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Phenylketonuria 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000171759 ENSG00000171759 HGNC:8582 PC gene PC Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency (Disorders of gluconeogenesis);lactic acidosis, hypotonia, encephalopathy;Pyruvate carboxylase deficiency 266150;Pyruvate carboxylase deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D 27604308 False 3 0;0;0 0.116 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA Expert Review Green Molecular autopsy 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 0.116 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);Propionic acidemia;Propionic aciduria (Organic acidurias);Propionicacidemia 606054;Propionicacidemia 27604308 False 3 0;0;0 0.116 False ENSG00000114054 ENSG00000114054 HGNC:8654 PDHA1 gene PDHA1 Expert Review Green Molecular autopsy 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);Pyruvate dehydrogenase E1-alpha deficiency, 312170;Leigh syndrome, X-linked, 308930 27604308 False 3 0;0;0 0.116 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism);Pyruvate dehydrogenase E1-beta deficiency, 614111 27604308 False 3 0;0;0 0.116 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency;Pyruvate dehydrogenase E3 binding protein deficiency (Disorders of pyruvate metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782;Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000164494 ENSG00000164494 HGNC:23041 PET100 gene PET100 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh syndrome;Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency 24462369 False 3 0;0;0 0.116 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B False 3 0;0;0 0.116 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 3A (Zellweger), 614859;Peroxisome biogenesis disorder 3B 27604308 False 3 0;0;0 0.116 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 11A (Zellweger) 27604308 False 3 0;0;0 0.116 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 13A (Zellweger) 27604308 False 3 0;0;0 0.116 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 12A (Zellweger) 27604308 False 3 0;0;0 0.116 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 10A (Zellweger) 614882 27604308 False 3 0;0;0 0.116 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 2A (Zellweger) 27604308 False 3 0;0;0 0.116 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 4B 614863;Peroxisome biogenesis disorder 4A (Zellweger) 614862 27604308 False 3 0;0;0 0.116 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII 27604308 False 3 0;0;0 0.116 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAP2 gene PGAP2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4 24439110 False 3 0;0;0 0.116 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 24698316 False 3 0;0;0 0.116 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHKA1 gene PHKA1 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, 300559 27604308 False 3 0;0;0 0.116 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHOX2B gene PHOX2B Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown USID;CCHS;sudden infant death syndrome;Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880;Congenital Central Hypoventilation Syndrome;unclassified sudden infant death False 3 0;0;0 0.116 False Other - please provide details in the comments ENSG00000109132 ENSG00000109132 HGNC:9143 PHYH gene PHYH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500;Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 0.116 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIGA gene PIGA Expert Review Green Molecular autopsy 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 0.116 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGL gene PIGL Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);CHIME syndrome 280000 22444671 False 3 0;0;0 0.116 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert Review Green Molecular autopsy 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 0.116 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green Molecular autopsy 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 0.116 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGT gene PIGT Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 23636107;28327575 False 3 0;0;0 0.116 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Expert Review Green Molecular autopsy 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 0.116 False ENSG00000060642 ENSG00000060642 HGNC:26031 PKP2 gene PKP2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 9;Brugada syndrome;Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9 (609040) 27532257;27761167;23500315;27085656;19862833;16301704;30420954 False 3 50;50;0 0.116 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLA2G6 gene PLA2G6 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 27604308;18570303;16783378;18799783 False 3 0;0;0 0.116 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLN gene PLN Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1P;Cardiomyopathy, familial hypertrophic, 18,;Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 27532257;20186049 False 3 50;50;0 0.116 False ENSG00000198523 ENSG00000198523 HGNC:9080 PMM2 gene PMM2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal slowly progressive cerebellar ataxia;non-progressive cerebellar ataxia 26657514;25808372 False 3 0;0;0 0.116 False ENSG00000165688 ENSG00000165688 HGNC:18667 PNPO gene PNPO Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 70, 614934;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 13, 614932;respiratory chain disorder;hearing loss;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;0 0.116 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal dominant, 157640;Progressive external ophthalmoplegia, autosomal recessive, 258450;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;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 0;0;0 0.116 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 27604308;27592148;30157269;31286721 False 3 0;0;0 0.116 False ENSG00000256525 ENSG00000256525 HGNC:9180 POMGNT1 gene POMGNT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280;Retinitis pigmentosa 76 617123;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151;Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27421908 False 3 0;0;0 0.116 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Walker-Warburg syndrome;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 27066570 False 3 0;0;0 0.116 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 False 3 0;0;0 0.116 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;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 0.116 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 613150;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156;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 mental retardation), type B, 2 613156 27421908 False 3 0;0;0 0.116 False ENSG00000009830 ENSG00000009830 HGNC:19743 PPA2 gene PPA2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Unexpected cardiac arrest in infancy;Sudden cardiac failure, infantile, 617222;Sudden cardiac failure, alcohol-induced, 617223 27523598 False 3 0;0;0 0.116 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPOX gene PPOX Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Porphyria variegata 176200;Variegate porphyria (Acute neuropathic porphyrias) 27604308;19460837;9811936 False 3 0;0;0 0.116 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPP1CB gene PPP1CB Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with loose anagen hair 2, 617506;Rasopathy with developmental delay, short stature and sparse slow-growing hair 27681385;27264673;28211982 False 3 0;0;0 0.116 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R13L gene PPP1R13L Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal sudden cardiac death;cardio-cutaneous syndrome 25691752;19016676;28069640 False 3 0;0;0 0.116 False ENSG00000104881 ENSG00000104881 HGNC:18838 PPT1 gene PPT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 27604308 False 3 0;0;0 0.116 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRKAG2 gene PRKAG2 Expert Review Green;London South GLH;North West GLH Molecular autopsy 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 False 3 50;50;0 0.116 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRODH gene PRODH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I 239500;Hyperprolinaemia type I (Disorders of ornithine or proline metabolism) 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000100033 ENSG00000100033 HGNC:9453 PSAP gene PSAP Expert Review Green Molecular autopsy 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;Krabbe disease, atypical, 611722;Gaucher disease, atypical, 610539 27604308 False 3 0;0;0 0.116 False ENSG00000197746 ENSG00000197746 HGNC:9498 PTPN11 gene PTPN11 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 1;LEOPARD syndrome 1;Noonan syndrome;LEOPARD syndrome;syndromic HCM 15240615;17497712;PMID: 17603483;12529711;12634870;15384080;16263833;11704759;18678287 False 3 0;100;0 0.116 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 PUS1 gene PUS1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000177192 ENSG00000177192 HGNC:15508 PYCR1 gene PYCR1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIB, 614438;Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism);Cutis laxa, autosomal recessive, type IIB, 612940 27604308 False 3 0;0;0 0.116 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYGL gene PYGL Expert Review Green Molecular autopsy 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 0.116 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type V, McArdle (Glycogen storage disorders);McArdle disease 232600 27604308 False 3 0;0;0 0.116 False ENSG00000068976 ENSG00000068976 HGNC:9726 QDPR gene QDPR Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C 27604308 False 3 0;0;0 0.116 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB3GAP2 gene RAB3GAP2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 614225;212720 16532399 False 3 0;0;0 0.116 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAF1 gene RAF1 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 2;syndromic HCM;LEOPARD syndrome;Noonan syndrome;Noonan syndrome 5 17603482;PMID: 17603483 False 3 0;100;0 0.116 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 RARS2 gene RARS2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBCK1 gene RBCK1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency 615895 23889995;23104095 False 3 0;0;0 0.116 False ENSG00000125826 ENSG00000125826 HGNC:15864 RBM20 gene RBM20 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1DD;Cardiomyopathy, dilated, 1DD (613172) 27532257;20186049 False 3 50;50;0 0.116 False ENSG00000203867 ENSG00000203867 HGNC:27424 RFT1 gene RFT1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000163933 ENSG00000163933 HGNC:30220 RIT1 gene RIT1 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8;Noonan syndrome type 8 PMID: 23791108;24939608;25124994 False 3 0;0;0 0.116 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 Expert Review Green Molecular autopsy 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 11, 614922;Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect 27604308 False 3 0;0;0 0.116 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000171865 ENSG00000171865 HGNC:18466 ROBO3 gene ROBO3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 16525029;15105459 False 3 0;0;0 0.116 False ENSG00000154134 ENSG00000154134 HGNC:13433 RPIA gene RPIA Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism);?Ribose 5-phosphate isomerase deficiency 608611 27604308;30088433;14988808;28801340 False 3 0;0;0 0.116 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPL10 gene RPL10 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35 25316788 False 3 0;0;0 0.116 False ENSG00000147403 ENSG00000147403 HGNC:10298 RRM2B gene RRM2B Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000048392 ENSG00000048392 HGNC:17296 RYR1 gene RYR1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Minicore myopathy with external ophthalmoplegia;Central core disease;Neuromuscular disease, congenital, with uniform type 1 fiber;congenital muscular dystrophies;Rhabdomyolysis and metabolic muscle disorders False 3 0;0;0 0.116 False ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772);Arrhythmogenic right ventricular dysplasia 2, 600996;Arrhythmogenic right ventricular cardiomyopathy;CPVT;Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy;catecholaminergic polymorphic ventricular tachycardia;Catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772;Long QT syndrome 27761157;19121813;19862833;30420954;16301704 False 3 50;50;0 0.116 False ENSG00000198626 ENSG00000198626 HGNC:10484 SACS gene SACS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type;Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) PMID: 14718708 (two family members);PMID: 10655055 (17 families with 24 patients);PMID: 15985586 (two siblings);PMID: 14718706 (two sisters);PMID: 12873855 (18 patients from 4 families);PMID: 16606928 (case study) False 3 0;0;0 0.116 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Anderson disease (Inherited hypolipidaemias);CHYLOMICRON RETENTION DISEASE 246700 27604308 False 3 0;0;0 0.116 False ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) PMID: 21255763;24034276 False 3 0;0;0 0.116 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCN10A gene SCN10A Expert Review Green;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown J wave syndrome;sudden death;Episodic pain syndrome, familial, 2 (615551);short QT 30420954;24998131;27761167;19862833;16301704 False 3 0;0;100 0.116 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction defect, nonspecific (612838);Atrial fibrillation, familial, 13 (615377);Brugada syndrome 5;Epileptic encephalopathy, early infantile, 52 (617350);Brugada syndrome 5 (612838);Epilepsy, generalized, with febrile seizures plus, type 1 (604233);Cardiac conduction defect, nonspecific;Nonspecific Cardiac Conduction Defect 25253298;27761167 False 3 0;50;50 0.116 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN3B gene SCN3B Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 7 23257389;27761167;19862833;30420954;16301704 False 3 0;50;50 0.116 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN5A gene SCN5A Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular cardiomyopathy;Ventricular fibrillation, familial, 1 (603829);Brugada syndrome 1 (601144);Dilated cardiomyopathy;Brugada syndrome 1 601144;Heart block, nonprogressive (113900);Long QT syndrome;Heart block, progressive, type IA (113900);{Sudden infant death syndrome, susceptibility to} (272120);Ventricular fibrillation, familial, 1,;Brugada syndrome;Paroxysmal Familial Ventricular Fibrillation;Sick sinus syndrome 1 (608567);Long QT syndrome-3 (603830);Cardiomyopathy, dilated, 1E (601154);Brugada syndrome 1;Ventricular fibrillation, familial, 1, 603829;Long QT syndrome-3;Cardiomyopathy, dilated, 1E;Atrial fibrillation, familial, 10 (614022) 27532257;27761167;20031634;20186049;16301704;19716085;30420954 False 3 50;50;0 0.116 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCO1 gene SCO1 Expert Review Green Molecular autopsy 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);Hepatic failure, early onset, and neurologic disorder 27604308 False 3 0;0;0 0.116 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;syndromic HCM;Isolated complex IV deficiency;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908;Mitochondrial Respiratory Chain Complex IV Deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 0;0;0 0.116 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 0.116 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA Expert Review Green;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Paragangliomas 5, 614165;Cardiomyopathy, dilated, 1GG, 613642;Isolated complex II deficiency;Mitochondrial respiratory chain complex II deficiency, 252011;Cardiomyopathy, dilated, 1GG;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex II Deficiency 27604308 False 3 0;100;0 0.116 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial complex II deficiency, 252011;Isolated complex II deficiency;Mitochondrial Respiratory Chain Complex II Deficiency;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 0;0;0 0.116 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Gastrointestinal stromal tumor, 606764;Pheochromocytoma, 171300;Paragangliomas 4, 115310;Isolated complex II deficiency;Cowden syndrome 2, 612359;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Paraganglioma and gastric stromal sarcoma, 606864 PMID: 26925370;22972948 False 3 0;0;0 0.116 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II 224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 22208203 False 3 0;0;0 0.116 False ENSG00000101310 ENSG00000101310 HGNC:10702 SELENON gene SELENON Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, 602771 False 3 0;0;0 0.116 False ENSG00000162430 ENSG00000162430 HGNC:15999 SERAC1 gene SERAC1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome (MEGDEL) (Organic acidurias);3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 29205472 False 3 0;0;0 0.116 False ENSG00000122335 ENSG00000122335 HGNC:21061 SGCD gene SGCD Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287);Cardiomyopathy, dilated, 1L (606685) 27532257;20186049;19259135 False 3 0;50;50 0.116 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGSH gene SGSH Expert Review Green Molecular autopsy 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 0.116 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHOC2 gene SHOC2 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM;Noonan-like syndrome with loose anagen hair 23918763;22528146;PMID: 19684605 False 3 0;100;0 0.116 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 SI gene SI Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900;Disaccharide intolerance 1 (Other carbohydrate disorders) 27604308;16329100;14724820;8648527 False 3 0;0;0 0.116 False ENSG00000090402 ENSG00000090402 HGNC:10856 SLC16A1 gene SLC16A1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 7;mainly ketosis with borderline reduction in glucose 26608392;17701893 False 3 0;0;0 0.116 False ENSG00000155380 ENSG00000155380 HGNC:10922 SLC17A5 gene SLC17A5 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile, 269920;Salla disease, 604369 . False 3 0;0;0 0.116 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC19A2 gene SLC19A2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, 249270;Thiamine-responsive megaloblastic anemia syndrome (Disorders of thiamine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal primary carnitine deficiency;Carnitine deficiency, systemic primary 212140;cardiomyopathy;arrhythmia;Propionicacidemia;Carnitine transporter deficiency (Disorders of carnitine transport and the carnitine cycle);short QT 7254270;29198778;26190315;7131143 False 3 0;0;0 0.116 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A13 gene SLC25A13 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II 603471;Citrullinemia, adult-onset type II, 603471;Citrullinemia, type II, neonatal-onset, 605814;Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 0.116 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970;HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 0.116 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Green Molecular autopsy 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;0 0.116 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A26 gene SLC25A26 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert Review Green Molecular autopsy 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;17273968;25681081 False 3 0;0;0 0.116 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A38 gene SLC25A38 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal severe, non-syndromic, microcytic/hypochromic sideroblastic anemia;nonsyndromic autosomal recessive congenital sideroblastic anemia;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));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 0;0;0 0.116 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert Review Green;London South GLH;North West GLH Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283;Disorders of mitochondrial protein transport;Hypertrophic cardiomyopathy;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283);Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418);Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418;Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184);Disorders of mitochondrial DNA maintenance and integrity 25732997;27532257 False 3 0;50;50 0.116 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A46 gene SLC25A46 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal optic atrophy spectrum disorder PMID: 26168012 False 3 0;0;0 0.116 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A2 gene SLC2A2 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC30A10 gene SLC30A10 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Parkinson Disease and Complex Parkinsonism;Early onset dystonia;Hypermanganesemia with dystonia 1;Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC35A1 gene SLC35A1 Expert Review Green Molecular autopsy 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;0 0.116 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35C1 gene SLC35C1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ic, 232240;Glycogen storage disease Ib, 232220;Glycogen Storage Disease Type I;Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen Storage Disease Ib and Ic;Glycogen storage disease type 1b, von Gierke (Glycogen storage disorders);heptomgaly, feed intolerance , inflammatory bowel disease, neutropenia 27604308 False 3 0;0;0 0.116 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A14 gene SLC39A14 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 27231142 False 3 0;0;0 0.116 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica (Disorder of zinc metabolism);Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC40A1 gene SLC40A1 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4 606069;Hemochromatosis, type 4 606069 (Disorder of iron metabolism);Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) 27604308;11518736;11431687;10471458 False 3 0;0;0 0.116 False ENSG00000138449 ENSG00000138449 HGNC:10909 SLC46A1 gene SLC46A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary;Hereditary folate malabsorption (Disorders of folate metabolism and transport) 27604308 False 3 0;0;0 0.116 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A3 gene SLC4A3 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cardiac arrest;ventricular fibrillation;short QT 29167417;29697308 False 3 0;0;0 0.116 False ENSG00000114923 ENSG00000114923 HGNC:11029 SLC52A2 gene SLC52A2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 614707 False 3 0;0;0 0.116 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1 211530;Fazio-Londe disease 211500 False 3 0;0;0 0.116 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption (Disorders of glucose transport);Glucose/galactose malabsorption 606824 (Disorders of glucose transport) 27604308 False 3 0;0;0 0.116 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC6A19 gene SLC6A19 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Iminoglycinuria, digenic;Hartnup disorder AD 27604308;20399395;19335424;19033659 False 3 0;0;0 0.116 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC7A7 gene SLC7A7 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance (Disorders of amino acid transport);Lysinuric protein intolerance 222700 27604308 False 3 0;0;0 0.116 False ENSG00000155465 ENSG00000155465 HGNC:11065 SMPD1 gene SMPD1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, 257200;Niemann-Pick disease, type B, 607616 27604308 False 3 0;0;0 0.116 False ENSG00000166311 ENSG00000166311 HGNC:11120 SNTA1 gene SNTA1 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 612955;Long QT syndrome 12 (612955) 30420954;19684871;19862833;16301704 False 3 0;50;50 0.116 False ENSG00000101400 ENSG00000101400 HGNC:11167 SOS1 gene SOS1 Expert Review Green;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM;Noonan syndrome;Noonan syndrome 4 17586837;17143285;PMID: 19438935;17143282 False 3 0;100;0 0.116 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 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 25795793;26173643 False 3 0;0;0 0.116 False Other - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SPG7 gene SPG7 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Spastic paraplegia 7, autosomal recessive, 607259;Disorders of mitochondrial DNA maintenance and integrity 27604308 False 3 0;0;0 0.116 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPRED1 gene SPRED1 Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius Syndrome;Neurofibromatosis-like syndrome PMID: 17704776;19443465;19366998;21548021;21649642 False 3 0;0;0 0.116 False ENSG00000166068 ENSG00000166068 HGNC:20249 SRD5A3 gene SRD5A3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal SRD5A3-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Iq 612379 27604308 False 3 0;0;0 0.116 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSR4 gene SSR4 Expert Review Green Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy 300934 26264460 False 3 0;0;0 0.116 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL5 gene ST3GAL5 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000115525 ENSG00000115525 HGNC:10872 SUCLA2 gene SUCLA2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonicaciduria), 612073;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 0;0;0 0.116 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400;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 0;0;0 0.116 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency 27604308 False 3 0;0;0 0.116 False ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency 27604308;27289259;12112661 False 3 0;0;0 0.116 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000148290 ENSG00000148290 HGNC:11474 SYNE1 gene SYNE1 Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8);Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 27782104;19542096 False 3 0;0;0 0.116 False ENSG00000131018 ENSG00000131018 HGNC:17089 TACO1 gene TACO1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000136463 ENSG00000136463 HGNC:24316 TALDO1 gene TALDO1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency 15877206;26238251;21119539;11283793;17095351;27604308;18331807;23315216 False 3 0;0;0 0.116 False ENSG00000177156 ENSG00000177156 HGNC:11559 TANGO2 gene TANGO2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 26805782;26805781 False 3 0;0;0 0.116 False ENSG00000183597 ENSG00000183597 HGNC:25439 TAZ gene TAZ Expert Review Green;London South GLH Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Barth syndrome, 302060;Dilated Cardiomyopathy, X-Linked;Left Ventricular Noncompaction Cardiomyopathy;Disorders of mitochondrial lipid metabolism;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) 27604308 False 3 0;100;0 0.116 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital muscular dystrophies;Cardiomyopathy, hypertrophic, 25 (607487);Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954);Cardiomyopathy, dilated, 1N 27532257;15582318;20186049 False 3 0;50;50 0.116 False ENSG00000173991 ENSG00000173991 HGNC:11610 TFR2 gene TFR2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250;Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000106327 ENSG00000106327 HGNC:11762 TIMM8A gene TIMM8A Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000126953 ENSG00000126953 HGNC:11817 TK2 gene TK2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560;Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Thymidine kinase 2 deficiency (Disorders of pyrimidine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM165 gene TMEM165 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727;CDG2K (other congenital disorders of glycosylation) 27604308 False 3 0;0;0 0.116 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM43 gene TMEM43 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 5 (604400);Emery-Dreifuss muscular dystrophy 7, AD 614302;Emery-Dreifuss muscular dystrophy 7, AD (614302);Arrhythmogenic right ventricular dysplasia 5 27532257;23812740 False 3 50;50;0 0.116 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM5 gene TMEM5 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 27212206 False 3 0;0;0 0.116 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM70 gene TMEM70 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;syndromic HCM;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 0;0;0 0.116 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNNC1 gene TNNC1 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1Z;Cardiomyopathy, dilated, 1Z (611879);Cardiomyopathy, familial hypertrophic, 13,;Cardiomyopathy, hypertrophic, 13 (613243) 27532257;20186049;28369730 False 3 50;50;0 0.116 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;London South GLH;North West GLH Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy;Cardiomyopathy, dilated, 1FF (613286);Cardiomyopathy, dilated, 2A,;Cardiomyopathy, familial hypertrophic, 7;Cardiomyopathy, hypertrophic, 7 (613690);?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, dilated, 1FF 27532257;20186049;28369730 False 3 50;50;0 0.116 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert Review Green;Literature Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy 616117 24925317;25791106;29355681 False 3 0;0;0 0.116 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1D (601494);Cardiomyopathy, familial hypertrophic, 2;Hypertrophic cardiomyopathy;Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Left ventricular noncompaction 6 (601494);Cardiomyopathy, dilated, 1D;Left ventricular noncompaction 6, 27532257;20186049;28369730 False 3 50;50;0 0.116 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPK1 gene TPK1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 False 3 0;0;0 0.116 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPM1 gene TPM1 Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 9,;Left ventricular noncompaction 9 ( 611878);Cardiomyopathy, hypertrophic, 3 (115196);Cardiomyopathy, familial hypertrophic, 3;Cardiomyopathy, dilated, 1Y;Cardiomyopathy, dilated, 1Y (611878) 27532257;20186049;28369730 False 3 50;50;0 0.116 False ENSG00000140416 ENSG00000140416 HGNC:12010 TPP1 gene TPP1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal);Ceroid lipofuscinosis, neuronal, 2;Hereditary ataxia 27604308 False 3 0;0;0 0.116 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRDN gene TRDN Expert Review Green;London South GLH;North West GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441);Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 26200674 False 3 50;50;0 0.116 False ENSG00000186439 ENSG00000186439 HGNC:12261 TRIM37 gene TRIM37 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism (Other peroxisomal disorders);Mulibrey nanism 27604308 False 3 0;0;0 0.116 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRMU gene TRMU Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal {Deafness, mitochondrial, modifier of}, 580000;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Liver failure, transient infantile, 613070 27604308 False 3 0;0;0 0.116 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD);retinitis pigmentosa with erythrocytic microcytosis PMID: 26494905;PMID: 25652405 False 3 0;0;0 0.116 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM4 gene TRPM4 Expert Review Green;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive familial heart block, type IB 604559;Progressive familial heart block, type IB (604559) 23382873 False 3 0;0;100 0.116 False ENSG00000130529 ENSG00000130529 HGNC:17993 TRPM6 gene TRPM6 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014;Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) 27604308;23942199;12032570 False 3 0;0;0 0.116 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSFM gene TSFM Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTN gene TTN Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1G;Tibial muscular dystrophy, tardive (600334);Myopathy, proximal, with early respiratory muscle involvement (603689);Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807);Cardiomyopathy, familial hypertrophic, 9 (613765);Salih myopathy (611705);Cardiomyopathy, familial hypertrophic, 9,;Cardiomyopathy, dilated, 1G (604145) 27532257;20186049 False 3 50;50;0 0.116 False ENSG00000155657 ENSG00000155657 HGNC:12403 TUSC3 gene TUSC3 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal TUSC3-CDG (Disorders of protein N-glycosylation);Mental retardation, autosomal recessive 7 27604308 False 3 0;0;0 0.116 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK Expert Review Green Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic);Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA Depletion Syndrome (biallelic);Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Progressive external ophthalmoplegia, autosomal dominant, 3, 609286;Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245;Mitochondrial DNA Depletion Syndrome;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic) 27604308 False 3 0;0;0 0.116 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism);Mitochondrial Neurogastrointestinal Encephalopathy Disease;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 27604308;24816252 False 3 0;0;0 0.116 False ENSG00000025708 ENSG00000025708 HGNC:3148 UGT1A1 gene UGT1A1 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMPS gene UMPS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Orotic aciduria;Orotic aciduria (Disorders of pyrimidine metabolism) 27604308;9042911 False 3 0;0;0 0.116 False ENSG00000114491 ENSG00000114491 HGNC:12563 UROD gene UROD Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) 27604308 False 3 0;0;0 0.116 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis);Porphyria, congenital erythropoietic 263700 27604308 False 3 0;0;0 0.116 False ENSG00000188690 ENSG00000188690 HGNC:12592 VARS2 gene VARS2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 20, 615917 False 3 0;0;0 0.116 False ENSG00000137411 ENSG00000137411 HGNC:21642 VCL gene VCL Expert Review Green;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 15,;Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, hypertrophic, 15 (613255);Cardiomyopathy, dilated, 1W 27532257;28369730 False 3 50;50;0 0.116 False ENSG00000035403 ENSG00000035403 HGNC:12665 WDR45 gene WDR45 Expert Review Green Molecular autopsy 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 0.116 False ENSG00000196998 ENSG00000196998 HGNC:28912 XDH gene XDH Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Xanthinuria type II (Disorders of purine metabolism);Xanthinuria type I (Disorders of purine metabolism) 27604308 False 3 0;0;0 0.116 False ENSG00000158125 ENSG00000158125 HGNC:12805 XYLT1 gene XYLT1 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2 23982343;24581741 False 3 0;0;0 0.116 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome 26987875;26027496 False 3 0;0;0 0.116 False ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 Expert Review Green Molecular autopsy 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 0;0;0 0.116 False ENSG00000139131 ENSG00000139131 HGNC:24249 ABCG5 gene ABCG5 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 2 0;0;0 0.116 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 2 0;0;0 0.116 False ENSG00000143921 ENSG00000143921 HGNC:13887 ABHD12 gene ABHD12 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital hearing impairment (profound/severe);PHARC syndrome (Disorders of complex lipid synthesis);Posterior segment abnormalities;Hereditary ataxia 27604308 False 2 0;0;0 0.116 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACTA1 gene ACTA1 Expert Review Amber;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 3, autosomal dominant or recessive 161800;CMD with rigid spine;Hypertrophic cardiomyopathy;Myopathy, congenital, with fiber-type disproportion 1 255310;Dilated cardiomyopathy doi:10. 1007/ s12265-016-9673-5;16945537 False 2 0;100;0 0.116 False ENSG00000143632 ENSG00000143632 HGNC:129 ACY1 gene ACY1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Aminoacylase 1 deficiency (Organic acidurias) 27604308 False 2 0;0;0 0.116 False ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined B and T cell defect;Adenosine deaminase deficiency (Disorders of purine metabolism);SCID;Infantile enterocolitis & monogenic inflammatory bowel disease 27604308 False 2 0;0;0 0.116 False ENSG00000196839 ENSG00000196839 HGNC:186 ADSL gene ADSL Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epileptic encephalopathy;Adenylosuccinate lyase deficiency (Disorders of purine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000239900 ENSG00000239900 HGNC:291 ALAS2 gene ALAS2 Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Erythropoietic protoporphyria, mild variant;X-linked sideroblastic anaemia (XLSA) (Porphyrias with acute painful photosensitivity);X-linked dominant protoporphyria (Porphyrias with acute painful photosensitivity) 27604308 False 2 0;0;0 0.116 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH3A2 gene ALDH3A2 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Sj gren - Larsson syndrome (Other disorders of lipid and lipoprotein metabolism);Inherited white matter disorders 27604308 False 2 0;0;0 0.116 False ENSG00000072210 ENSG00000072210 HGNC:403 ALG13 gene ALG13 Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability;Epileptic encephalopathy;ALG13-CDG (Disorders of protein N-glycosylation);Epileptic encephalopathy, early infantile, 36 300884 27604308;25732998;22492991 False 2 0;0;0 0.116 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALPL gene ALPL Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Unexplained skeletal dysplasia;Osteogenesis Imperfecta;Craniosynostosis syndromes phenotypes;Hypophosphatasia (Disorders of pyridoxine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000162551 ENSG00000162551 HGNC:438 ANKRD1 gene ANKRD1 Expert Review Amber;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant False 2 0;100;0 0.116 False ENSG00000148677 ENSG00000148677 HGNC:15819 APOB gene APOB Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypobetalipoproteinaemia (Inherited hypolipidaemias);Familial hypercholesterolaemia 27604308 False 2 0;0;0 0.116 False ENSG00000084674 ENSG00000084674 HGNC:603 ASAH1 gene ASAH1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Farber disease (Sphingolipidoses);Intellectual disability;Fetal hydrops 27604308 False 2 0;0;0 0.116 False ENSG00000104763 ENSG00000104763 HGNC:735 CACNA2D1 gene CACNA2D1 Expert Review Amber;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cardiac arrhythmia;Brugada/Brugada like syndrome;short qt;Sudden death;Brugada syndrome;Short QT syndrome 6;aborted sudden death 27761167;17224476;19862833;16301704;30420954;20817017 False 2 0;50;50 0.116 False ENSG00000153956 ENSG00000153956 HGNC:1399 CISD2 gene CISD2 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Diabetes with additional phenotypes suggestive of a monogenic aetiology;Wolfram syndrome 2 (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Intellectual disability 27604308 False 2 0;0;0 0.116 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLDN16 gene CLDN16 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 5, renal with ocular involvement (Disorder of magnesium metabolism);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) 27604308 False 2 0;0;0 0.116 False ENSG00000164007 ENSG00000164007 HGNC:2040 COA3 gene COA3 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 2 0;0;0 0.116 False ENSG00000183978 ENSG00000183978 HGNC:24990 COA6 gene COA6 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?{Fatal infantile cardiomyopathy, association with}, 604377 False 2 0;0;0 0.116 False ENSG00000168275 ENSG00000168275 HGNC:18025 COL4A1 gene COL4A1 Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted walker warburg syndrome, muscle eye brain disease 21625620;28056338;22037604 False 2 0;0;0 0.116 False ENSG00000187498 ENSG00000187498 HGNC:2202 CRYAB gene CRYAB Expert Review Amber;London South GLH Molecular autopsy Unknown Cardiomyopathy, dilated, 1II,;Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 False 2 0;100;0 0.116 False ENSG00000109846 ENSG00000109846 HGNC:2389 CSTB gene CSTB Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) 27604308 False 2 0;0;0 0.116 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTSC gene CTSC Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Papillon-Lef vre syndrome (Other lysosomal disorders, Cathepsin-related disorders);Unexplained skeletal dysplasia 27604308 False 2 0;0;0 0.116 False ENSG00000109861 ENSG00000109861 HGNC:2528 CYCS gene CYCS Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, 612004 24326104;PMID: 18345000 False 2 0;0;0 0.116 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYP7B1 gene CYP7B1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3 27604308;9802883 False 2 0;0;0 0.116 False ENSG00000172817 ENSG00000172817 HGNC:2652 DCC gene DCC Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2 28250456 False 2 0;0;0 0.116 False ENSG00000187323 ENSG00000187323 HGNC:2701 DCXR gene DCXR Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal [Pentosuria] 260800;Essential pentosuria (Disorders of pentose metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000169738 ENSG00000169738 HGNC:18985 DHCR24 gene DHCR24 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Desmosterolosis (Disorders of sterol biosynthesis);Unexplained skeletal dysplasia;Intellectual disability 27604308 False 2 0;0;0 0.116 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Amber Molecular autopsy 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 2 0;0;0 0.116 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59 613861;Posterior segment abnormalities;Retinitis pigmentosa (other congenital disorders of glycosylation) 21295282;21295283;27343064 False 2 0;0;0 0.116 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHODH gene DHODH Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Bilateral microtia;Unexplained skeletal dysplasia;Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism);Deafness and congenital structural abnormalities 27604308 False 2 0;0;0 0.116 False ENSG00000102967 ENSG00000102967 HGNC:2867 DPM3 gene DPM3 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Io 612937;Congenital disorder of glycosylation, type Io 612937;DMP3-CDG (other congenital disorders of glycosylation);congenital muscular dystrophies;Congenital disorder of glycosylation, type Io 19576565 False 2 0;0;0 0.116 False ENSG00000179085 ENSG00000179085 HGNC:3007 DYSF gene DYSF Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, with anterior tibial onset, 606768;Muscular dystrophy, limb-girdle, type 2B, 253601;Miyoshi muscular dystrophy 1, 254130 25821721 False 2 0;0;0 0.116 False ENSG00000135636 ENSG00000135636 HGNC:3097 FECH gene FECH Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Erythropoietic protoporphyria, mild variant;Erythropoietic protoporphyria (Porphyrias with acute painful photosensitivity) 27604308 False 2 0;0;0 0.116 False ENSG00000066926 ENSG00000066926 HGNC:3647 FGFR2 gene FGFR2 Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bilateral microtia;Deafness and congenital structural abnormalities;Craniosynostosis syndromes phenotypes;Arthrogryposis;Choanal atresia;Antley-Bixler syndrome type without disordered steroidogenesis;Unexplained skeletal dysplasia 27604308 False 2 0;0;0 0.116 False ENSG00000066468 ENSG00000066468 HGNC:3689 FLNC gene FLNC Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 2 0;0;0 0.116 False ENSG00000128591 ENSG00000128591 HGNC:3756 FTCD gene FTCD Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency 27604308 False 2 0;0;0 0.116 False ENSG00000160282 ENSG00000160282 HGNC:3974 FXN gene FXN Expert Review Amber;London South GLH Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hereditary ataxia;syndromic HCM;Friedreich ataxia, 229300;Friedreich ataxia with retained reflexes, 229300;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 2 0;100;0 0.116 False Other - please provide details in the comments ENSG00000165060 ENSG00000165060 HGNC:3951 GAMT gene GAMT Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Guanidinoacetate methyltransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000130005 ENSG00000130005 HGNC:4136 GATAD1 gene GATAD1 Expert Review Amber;London South GLH Molecular autopsy Unknown Cardiomyopathy, dilated, 2B False 2 0;100;0 0.116 False ENSG00000157259 ENSG00000157259 HGNC:29941 GK gene GK Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Glycerol kinase deficiency (Disorders of glycerol metabolism);Intellectual disability;Intellectual_disability 27604308 False 2 0;0;0 0.116 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLUL gene GLUL Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Glutamine deficiency, congenital (Other disorder of amino acid metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000135821 ENSG00000135821 HGNC:4341 GNMT gene GNMT Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycine N-methyltransferase deficiency 27604308;17660255 False 2 0;0;0 0.116 False ENSG00000124713 ENSG00000124713 HGNC:4415 HADH gene HADH Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Hyperinsulinism;3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308 False 2 0;0;0 0.116 False ENSG00000138796 ENSG00000138796 HGNC:4799 HPD gene HPD Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPS1 gene HPS1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Hermansky-Pudlak Syndrome (Other lysosomal disorders);Inherited bleeding disorders 27604308 False 2 0;0;0 0.116 False ENSG00000107521 ENSG00000107521 HGNC:5163 HSD17B10 gene HSD17B10 Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability;2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual_disability 27604308 False 2 0;0;0 0.116 False ENSG00000072506 ENSG00000072506 HGNC:4800 ISCU gene ISCU Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, 255125;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Rhabdomyolysis and metabolic muscle disorders;Disorders of iron homeostasis 27604308 False 2 0;0;0 0.116 False ENSG00000136003 ENSG00000136003 HGNC:29882 JPH2 gene JPH2 Expert Review Amber;London South GLH Molecular autopsy Unknown Cardiomyopathy, familial hypertrophic 17, 17476457;28393127;17509612 False 2 0;100;0 0.116 False ENSG00000149596 ENSG00000149596 HGNC:14202 KCNJ8 gene KCNJ8 Expert Review Amber;London South GLH Molecular autopsy Unknown ventricular tachycardia;Brugada/Brugada like syndrome;Sudden infant death syndrome;?Ventricular fibrillation;arrhythmia;short qt;atrial fibrillation 19120683 False 2 0;100;0 0.116 False Other ENSG00000121361 ENSG00000121361 HGNC:6269 LBR gene LBR Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Greenberg skeletal dysplasia (Disorders of sterol biosynthesis);Unexplained skeletal dysplasia;Fetal hydrops 27604308 False 2 0;0;0 0.116 False ENSG00000143815 ENSG00000143815 HGNC:6518 LDLR gene LDLR Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypercholesterolaemia;Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias) 27604308 False 2 0;0;0 0.116 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Familial hypercholesterolaemia;Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) 27604308 False 2 0;0;0 0.116 False ENSG00000157978 ENSG00000157978 HGNC:18640 LIPC gene LIPC Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal {Diabetes mellitus, noninsulin-dependent} 125853;Hepatic lipase deficiency (Inherited mixed hyperlipidaemias);Hepatic lipase deficiency, 614025;[High density lipoprotein cholesterol level QTL 12] 612797 27604308 False 2 0;0;0 0.116 False ENSG00000166035 ENSG00000166035 HGNC:6619 MAGT1 gene MAGT1 Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined B and T cell defect;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853;IAP-CDG (Disorders of protein N-glycosylation) 27604308;27393411 False 2 0;0;0 0.116 False ENSG00000102158 ENSG00000102158 HGNC:28880 MANBA gene MANBA Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta 27604308 False 2 0;0;0 0.116 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females sudden infant death syndrome;Brunner syndrome 22351881 False 2 0;0;0 0.116 False ENSG00000189221 ENSG00000189221 HGNC:6833 MOCS1 gene MOCS1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000164172 ENSG00000164172 HGNC:7193 MRPL3 gene MRPL3 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal syndromic HCM;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 9, 614582 27604308 False 2 0;0;0 0.116 False ENSG00000114686 ENSG00000114686 HGNC:10379 MTFMT gene MTFMT Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15, 614947;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Inherited white matter disorders 27604308 False 2 0;0;0 0.116 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTPAP gene MTPAP Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive, 613672;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Ataxia, spastic, 4, 613672 27604308 False 2 0;0;0 0.116 False ENSG00000107951 ENSG00000107951 HGNC:25532 MT-RNR2 gene MT-RNR2 Expert Review Amber Molecular autopsy MITOCHONDRIAL False 2 0;0;0 0.116 False ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TT gene MT-TT Expert Review Amber Molecular autopsy MITOCHONDRIAL False 2 0;0;0 0.116 False ENSG00000210195 ENSG00000210195 HGNC:7499 MVK gene MVK Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Mevalonate kinase deficiency (Disorders of sterol biosynthesis) 27604308 False 2 0;0;0 0.116 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYLK2 gene MYLK2 Expert Review Amber;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 1, digenic (192600);Cardiomyopathy, hypertrophic, midventricular, digenic, 27532257;28369730 False 2 50;50;0 0.116 False ENSG00000101306 ENSG00000101306 HGNC:16243 MYPN gene MYPN Expert Review Amber;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1KK;Cardiomypathy, familial hypertrophic, 22, False 2 0;100;0 0.116 False ENSG00000138347 ENSG00000138347 HGNC:23246 NDUFA4 gene NDUFA4 Expert Review Amber Molecular autopsy Unknown Isolated complex IV deficiency;No OMIM phenotype PMID: 23746447 False 2 0;0;0 0.116 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFB9 gene NDUFB9 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency;?Mitochondrial complex I deficiency, 252010;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity. False 2 0;0;0 0.116 False ENSG00000147684 ENSG00000147684 HGNC:7704 OCRL gene OCRL Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual_disability;Cataracts;Intellectual disability 27604308 False 2 0;0;0 0.116 False ENSG00000122126 ENSG00000122126 HGNC:8108 OPLAH gene OPLAH Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oxoprolinuria (Disorders of the gamma-glutamyl cycle);5-oxoprolinase deficiency, 260005 27604308 False 2 0;0;0 0.116 False ENSG00000178814 ENSG00000178814 HGNC:8149 PANK2 gene PANK2 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236;Early onset dystonia;Posterior segment abnormalities;Parkinson Disease and Complex Parkinsonism;Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism);Pantothenate kinases deficiency (Other disorders of vitamins and cofactors) 27604308 False 2 0;0;0 0.116 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Epileptic encephalopathy, early infantile, 75, 618437;Alpers syndrome. PMID: 25629079 (single case) False 2 0;0;0 0.116 False ENSG00000162396 ENSG00000162396 HGNC:30563 PCK1 gene PCK1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency;(PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) 27604308 False 2 0;0;0 0.116 False ENSG00000124253 ENSG00000124253 HGNC:8724 PCSK9 gene PCSK9 Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypercholesterolaemia;Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) 27604308 False 2 0;0;0 0.116 False ENSG00000169174 ENSG00000169174 HGNC:20001 PDPR gene PDPR Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308;25558065 False 2 0;0;0 0.116 False ENSG00000090857 ENSG00000090857 HGNC:30264 PEPD gene PEPD Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Prolidase deficiency (Other disorders of peptide metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000124299 ENSG00000124299 HGNC:8840 PGAM2 gene PGAM2 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type X (Glycogen storage disorders);Rhabdomyolysis and metabolic muscle disorders 27604308 False 2 0;0;0 0.116 False ENSG00000164708 ENSG00000164708 HGNC:8889 PHGDH gene PHGDH Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism);Unexplained skeletal dysplasia;Intellectual disability 27604308;24816252 False 2 0;0;0 0.116 False ENSG00000092621 ENSG00000092621 HGNC:8923 PIGM gene PIGM Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation;Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Glycosylphosphatidylinositol deficiency, 610293;Glycosylphosphatidylinositol deficiency 610293;Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 27604308;16767100;25293775 False 2 0;0;0 0.116 False ENSG00000143315 ENSG00000143315 HGNC:18858 PINK1 gene PINK1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Early onset dystonia;Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Parkinson Disease and Complex Parkinsonism 27604308 False 2 0;0;0 0.116 False ENSG00000158828 ENSG00000158828 HGNC:14581 PNP gene PNP Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal SCID;Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000198805 ENSG00000198805 HGNC:7892 POR gene POR Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with disordered steroidogenesis;Unexplained skeletal dysplasia;Disorders of sex development;Craniosynostosis syndromes phenotypes 27604308 False 2 0;0;0 0.116 False ENSG00000127948 ENSG00000127948 HGNC:9208 PRPS1 gene PRPS1 Expert Review Amber Molecular autopsy X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability;Charcot-Marie-Tooth disease;Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism);Congenital hearing impairment (profound/severe);Intellectual_disability 27604308 False 2 0;0;0 0.116 False ENSG00000147224 ENSG00000147224 HGNC:9462 PSAT1 gene PSAT1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism);Unexplained skeletal dysplasia 27604308 False 2 0;0;0 0.116 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSEN1 gene PSEN1 Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1U False 2 0;0;0 0.116 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1V False 2 0;0;0 0.116 False ENSG00000143801 ENSG00000143801 HGNC:9509 PSPH gene PSPH Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism);Unexplained skeletal dysplasia 27604308;24816252 False 2 0;0;0 0.116 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTS gene PTS Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000150787 ENSG00000150787 HGNC:9689 QARS gene QARS Expert Review Amber Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 2 0;0;0 0.116 False ENSG00000172053 ENSG00000172053 HGNC:9751 RANBP2 gene RANBP2 Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute necrotizing encephalopathy (Other metabolic disorders) 27604308 False 2 0;0;0 0.116 False ENSG00000153201 ENSG00000153201 HGNC:9848 RBP4 gene RBP4 Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinol binding protein deficiency (Other disorders of vitamins and cofactors);Posterior segment abnormalities 27604308 False 2 0;0;0 0.116 False ENSG00000138207 ENSG00000138207 HGNC:9922 RNASEH2A gene RNASEH2A Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Intracerebral calcification disorders;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4;Inherited white matter disorders 27604308 False 2 0;0;0 0.116 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS2;Intracerebral calcification disorders;Inherited white matter disorders 27604308 False 2 0;0;0 0.116 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3;Intracerebral calcification disorders;Inherited white matter disorders 27604308 False 2 0;0;0 0.116 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism);Inherited white matter disorders 27604308 False 2 0;0;0 0.116 False ENSG00000026297 ENSG00000026297 HGNC:21686 SC5D gene SC5D Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Lathosterolosis (Disorders of sterol biosynthesis);Intellectual disability;Cataracts 27604308 False 2 0;0;0 0.116 False ENSG00000109929 ENSG00000109929 HGNC:10547 SDHAF2 gene SDHAF2 Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial Diseases;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex II deficiency;Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Multiple Tumours 27604308 False 2 0;0;0 0.116 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial Diseases;Isolated complex II deficiency;Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Multiple Tumours 27604308 False 2 0;0;0 0.116 False ENSG00000143252 ENSG00000143252 HGNC:10682 SETX gene SETX Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Charcot-Marie-Tooth disease;Hereditary ataxia;Amyotrophic lateral sclerosis/motor neuron disease 27604308 False 2 0;0;0 0.116 False ENSG00000107290 ENSG00000107290 HGNC:445 SKIV2L gene SKIV2L Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 2 (Other metabolic disorders) 27604308 False 2 0;0;0 0.116 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A3 gene SLC12A3 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome (Disorder of magnesium metabolism);Renal tubular acidosis 27604308 False 2 0;0;0 0.116 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC18A2 gene SLC18A2 Expert Review Amber Molecular autopsy 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 2 0;0;0 0.116 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC25A12 gene SLC25A12 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypomyelination, global cerebral, 612949;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Inherited white matter disorders 27604308 False 2 0;0;0 0.116 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC2A1 gene SLC2A1 Expert Review Amber Molecular autopsy 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 27604308 False 2 0;0;0 0.116 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC35A2 gene SLC35A2 Expert Review Amber Molecular autopsy 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 2 0;0;0 0.116 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC3A1 gene SLC3A1 Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cystinuria (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 2 0;0;0 0.116 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC6A3 gene SLC6A3 Expert Review Amber Molecular autopsy 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 2 0;0;0 0.116 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A8 gene SLC6A8 Expert Review Amber Molecular autopsy 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 2 0;0;0 0.116 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A9 gene SLC7A9 Expert Review Amber Molecular autopsy 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 False 2 0;0;0 0.116 False ENSG00000021488 ENSG00000021488 HGNC:11067 SPR gene SPR Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Sepiapterin reductase deficiency (Disorders of pterin metabolism);Parkinson Disease and Complex Parkinsonism 27604308 False 2 0;0;0 0.116 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTLC1 gene SPTLC1 Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308 False 2 0;0;0 0.116 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308 False 2 0;0;0 0.116 False ENSG00000100596 ENSG00000100596 HGNC:11278 ST3GAL3 gene ST3GAL3 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epileptic encephalopathy, early infantile, 15 615006;ST3GAL3-CDG (Disorders of protein N-glycosylation) 27604308 False 2 0;0;0 0.116 False ENSG00000126091 ENSG00000126091 HGNC:10866 STS gene STS Expert Review Amber Molecular autopsy 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 False 2 0;0;0 0.116 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3A gene STT3A Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iw 615596 23842455 False 2 0;0;0 0.116 False ENSG00000134910 ENSG00000134910 HGNC:6172 TARS2 gene TARS2 Expert Review Amber Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Combined oxidative phosphorylation deficiency 21, 615918 PMID: 24827421 - Compound heterozygous variants in TARS2 were reported in the proband and his affected sister - a missense mutation (c.845C>T, p.Pro282Leu) and a nucleotide change in position +3 of intron 6 (g.4255A>G, c.695+3A>G). The parents carrying one of the variants, one unaffected sister carried one variant, and the other unaffected sibling carried neither. False 2 0;0;0 0.116 False ENSG00000143374 ENSG00000143374 HGNC:30740 TAT gene TAT Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000198650 ENSG00000198650 HGNC:11573 TCN2 gene TCN2 Expert Review Amber Molecular autopsy 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 False 2 0;0;0 0.116 False ENSG00000185339 ENSG00000185339 HGNC:11653 TH gene TH Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines);Parkinson Disease and Complex Parkinsonism 27604308 False 2 0;0;0 0.116 False ENSG00000180176 ENSG00000180176 HGNC:11782 TIMM50 gene TIMM50 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX 617698 27573165 False 2 0;0;0 0.116 False ENSG00000105197 ENSG00000105197 HGNC:23656 TMEM126B gene TMEM126B Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency 27374774 False 2 0;0;0 0.116 False ENSG00000171204 ENSG00000171204 HGNC:30883 TREX1 gene TREX1 Expert Review Amber Molecular autopsy 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 False 2 0;0;0 0.116 False ENSG00000213689 ENSG00000213689 HGNC:12269 TTC37 gene TTC37 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 1 (Other metabolic disorders) 27604308 False 2 0;0;0 0.116 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTPA gene TTPA Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal TTP1 deficiency (Other disorders of vitamins and cofactors);Hereditary ataxia 27604308 False 2 0;0;0 0.116 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Expert Review Amber;London South GLH Molecular autopsy Unknown syndromic HCM False 2 0;100;0 0.116 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUFM gene TUFM Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, 610678;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 4 610678 27604308 False 2 0;0;0 0.116 False ENSG00000178952 ENSG00000178952 HGNC:12420 UMOD gene UMOD Expert Review Amber Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cystic kidney disease;Unexplained kidney failure in young people;Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000169344 ENSG00000169344 HGNC:12559 UQCRB gene UQCRB Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3 615158;Mitochondrial Diseases;Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 3, 615158;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) PMID: 12709789 (case report);PMID: 23454382 (functional study);PMID: 25446085 (functional study) False 2 0;0;0 0.116 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRQ gene UQCRQ Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546;27604308 False 2 0;0;0 0.116 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 2 0;0;0 0.116 False ENSG00000159650 ENSG00000159650 HGNC:26444 VIPAS39 gene VIPAS39 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Inherited bleeding disorders;ARC Syndrome (Other metabolic disorders);Arthrogryposis 27604308 False 2 0;0;0 0.116 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Vitamin K epoxide reductase deficiency (Other disorders of vitamins and cofactors);Inherited bleeding disorders 27604308 False 2 0;0;0 0.116 False ENSG00000167397 ENSG00000167397 HGNC:23663 VPS33B gene VPS33B Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ARC Syndrome (Other metabolic disorders);CAKUT;Unexplained kidney failure in young people;Inherited bleeding disorders;Arthrogryposis 27604308 False 2 0;0;0 0.116 False ENSG00000184056 ENSG00000184056 HGNC:12712 WFS1 gene WFS1 Expert Review Amber Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes with additional phenotypes suggestive of a monogenic aetiology;Inherited optic neuropathies;Wolfram syndrome 1, 222300;Mitochondrial respiratory chain disorders caused by nuclear variants only;Hereditary ataxia;Familial diabetes;Congenital hearing impairment (profound/severe) 27604308 False 2 0;0;0 0.116 False ENSG00000109501 ENSG00000109501 HGNC:12762 XPNPEP3 gene XPNPEP3 Expert Review Amber Molecular autopsy BIALLELIC, autosomal or pseudoautosomal nephronophthisis-like nephropathy PMID: 20179356 False 2 0;0;0 0.116 False ENSG00000196236 ENSG00000196236 HGNC:28052 A2ML1 gene A2ML1 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 24939586;25862627;27942422 False 1 0;0;0 0.116 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166535 ENSG00000166535 HGNC:23336 ABCG2 gene ABCG2 Expert Review Red Molecular autopsy Unknown Primary idiopathic gout (Disorders of purine metabolism);[Junior blood group system] 614490;[Uric acid concentration, serum, QTL1] 138900 27604308 False 1 0;0;0 0.116 False ENSG00000118777 ENSG00000118777 HGNC:74 AHCY gene AHCY Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal S-adenosylhomocysteine hydrolase deficiency (Disorders of the metabolism of sulphur amino acids) 27604308 False 1 0;0;0 0.116 False ENSG00000101444 ENSG00000101444 HGNC:343 AKAP9 gene AKAP9 Expert Review Red;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-11 (611820);?Long QT syndrome-11 611820;Long QT syndrome-11 30420954;19862833;25087618;16301704 False 1 0;50;50 0.116 False ENSG00000127914 ENSG00000127914 HGNC:379 ALDH1B1 gene ALDH1B1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;0;0 0.116 False ENSG00000137124 ENSG00000137124 HGNC:407 ALG10 gene ALG10 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;0 0.116 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG10B gene ALG10B Other Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 0.116 False ENSG00000175548 ENSG00000175548 HGNC:31088 ALG14 gene ALG14 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308;23404334 False 1 0;0;0 0.116 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates 616228;Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation);?Congenital disorder of glycosylation, type Ii 607906 12684507;23404334 False 1 0;0;0 0.116 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALMS1 gene ALMS1 London South GLH Molecular autopsy False 1 0;100;0 0.116 False ENSG00000116127 ENSG00000116127 HGNC:428 AMPD1 gene AMPD1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Myoadenylate deaminase deficiency (Disorders of purine metabolism);Myopathy due to myoadenylate deaminase deficiency 615511 27604308 False 1 0;0;0 0.116 False ENSG00000116748 ENSG00000116748 HGNC:468 ANO5 gene ANO5 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Limb-Girdle Muscular Dystrophy, Recessive;Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319;Gnathodiaphyseal dysplasia, 166260 False 1 0;0;0 0.116 False ENSG00000171714 ENSG00000171714 HGNC:27337 AOX1 gene AOX1 Expert Review Red Molecular autopsy Unknown Xanthinuria type II (Disorders of purine metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000138356 ENSG00000138356 HGNC:553 ARSG gene ARSG Expert Review Red Molecular autopsy Unknown neuronal ceroid lipofuscinosis 26975023;20679209;25452429 False 1 0;0;0 0.116 False ENSG00000141337 ENSG00000141337 HGNC:24102 ASCL1 gene ASCL1 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCHS;Central hypoventilation syndrome, congenital, 209880 False 1 0;0;0 0.116 False ENSG00000139352 ENSG00000139352 HGNC:738 ATAD3B gene ATAD3B Expert Review Red Molecular autopsy Unknown Influence on AIDS progression;No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000160072 ENSG00000160072 HGNC:24007 ATP5A1 gene ATP5A1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);?Combined oxidative phosphorylation deficiency 22;?Combined oxidative phosphorylation deficiency 22 616045;?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228;?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency);PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion). False 1 0;0;0 0.116 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000110955 ENSG00000110955 HGNC:830 ATP5C1 gene ATP5C1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000165629 ENSG00000165629 HGNC:833 ATP5E gene ATP5E Expert Review Red Molecular autopsy Unknown syndromic HCM;Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 PMID: 20566710 False 1 0;0;0 0.116 False ENSG00000124172 ENSG00000124172 HGNC:838 ATP5G1 gene ATP5G1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000135390 ENSG00000135390 HGNC:842 ATP5G3 gene ATP5G3 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000154518 ENSG00000154518 HGNC:843 ATP5I gene ATP5I Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000154723 ENSG00000154723 HGNC:847 ATP5O gene ATP5O Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000241837 ENSG00000241837 HGNC:850 ATXN7 gene ATXN7 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7 164500;Spinocerebellar ataxia-7 (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 1 0;0;0 0.116 False ENSG00000163635 ENSG00000163635 HGNC:10560 BCAT1 gene BCAT1 Expert Review Red Molecular autopsy Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;0 0.116 False ENSG00000060982 ENSG00000060982 HGNC:976 BCAT2 gene BCAT2 Expert Review Red Molecular autopsy Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;0 0.116 False ENSG00000105552 ENSG00000105552 HGNC:977 BDNF gene BDNF Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCHS;Central hypoventilation syndrome, congenital, 209880 False 1 0;0;0 0.116 False ENSG00000176697 ENSG00000176697 HGNC:1033 BOLA1 gene BOLA1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA2 gene BOLA2 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000183336 ENSG00000183336 HGNC:29488 C1GALT1C1 gene C1GALT1C1 Expert Review Red Molecular autopsy Other - please specify in evaluation comments COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tn polyagglutination syndrome, somatic;Tn polyagglutination syndrome, somatic 300622 27604308;19778426;27536663 False 1 0;0;0 0.116 False ENSG00000171155 ENSG00000171155 HGNC:24338 CAD gene CAD Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;0;0 0.116 False ENSG00000084774 ENSG00000084774 HGNC:1424 CALM3 gene CALM3 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000160014 ENSG00000160014 HGNC:1449 CALR3 gene CALR3 Expert Review Red;London South GLH Molecular autopsy Unknown Cardiomyopathy, familial hypertrophic, 19 False 1 0;100;0 0.116 False ENSG00000269058 ENSG00000269058 HGNC:20407 CARS2 gene CARS2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000134905 ENSG00000134905 HGNC:25695 CAV3 gene CAV3 Expert Review Red;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic,;Brugada/Brugada like syndrome;Long QT syndrome-9 False 1 0;100;0 0.116 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN4 gene CAVIN4 Expert Review Red Molecular autopsy Unknown Dilated cardiomyopathy doi:10. 1007/ s12265-016-9673-5;21642240 False 1 0;0;0 0.116 False ENSG00000170681 ENSG00000170681 HGNC:33742 CD320 gene CD320 Expert Review Red Molecular autopsy Unknown Methylmalonic aciduria due to transcobalamin receptor defect 27604308;20524213 False 1 0;0;0 0.116 False ENSG00000167775 ENSG00000167775 HGNC:16692 CEP89 gene CEP89 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems PMID: 23575228 False 1 0;0;0 0.116 False ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [High density lipoprotein cholesterol level QTL 10] 143470;Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism);Hyperalphalipoproteinemia 143470 27604308 False 1 0;0;0 0.116 False ENSG00000087237 ENSG00000087237 HGNC:1869 CLPS gene CLPS Expert Review Red Molecular autopsy Unknown Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000137392 ENSG00000137392 HGNC:2085 CNDP1 gene CNDP1 Expert Review Red Molecular autopsy Unknown Carnosinaemia (Other disorders of peptide metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000150656 ENSG00000150656 HGNC:20675 COA1 gene COA1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000106603 ENSG00000106603 HGNC:21868 COA5 gene COA5 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3;Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);syndromic HCM 27604308 False 1 0;0;0 0.116 False ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;0 0.116 False ENSG00000135775 ENSG00000135775 HGNC:6546 COL4A2 gene COL4A2 Expert Review Red Molecular autopsy Unknown 22037604 - Drosophilia model seems to implicate COL4A1 and not COL4A2 in myopathy False 1 0;0;0 0.116 False ENSG00000134871 ENSG00000134871 HGNC:2203 COQ7 gene COQ7 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal complex multisystem presentation;primary coenzyme Q10 deficiency PMID: 26084283 False 1 0;0;0 0.116 False ENSG00000167186 ENSG00000167186 HGNC:2244 COX4I1 gene COX4I1 Expert Review Red Molecular autopsy Unknown Mitochondrial Diseases;No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000131143 ENSG00000131143 HGNC:2265 COX4I2 gene COX4I2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714;Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 27604308 False 1 0;0;0 0.116 False ENSG00000131055 ENSG00000131055 HGNC:16232 COX5A gene COX5A Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000178741 ENSG00000178741 HGNC:2267 COX5B gene COX5B Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX6C gene COX6C Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A2 gene COX7A2 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7B2 gene COX7B2 Expert Review Red Molecular autopsy Unknown ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;0;0 0.116 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7C gene COX7C Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh-like syndrome and epilepsy PMID: 26685157 False 1 0;0;0 0.116 False ENSG00000176340 ENSG00000176340 HGNC:2294 CTF1 gene CTF1 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 0.116 False ENSG00000150281 ENSG00000150281 HGNC:2499 CTNNA3 gene CTNNA3 Expert Review Red Molecular autopsy Unknown Arrhythmogenic right ventricular dysplasia, familial, 13, False 1 0;0;0 0.116 False ENSG00000183230 ENSG00000183230 HGNC:2511 CYP7A1 gene CYP7A1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis);Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 27604308 False 1 0;0;0 0.116 False ENSG00000167910 ENSG00000167910 HGNC:2651 DDOST gene DDOST Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ir 614507 22305527 False 1 0;0;0 0.116 False ENSG00000244038 ENSG00000244038 HGNC:2728 DHFR2 gene DHFR2 Expert Review Red Molecular autopsy Unknown 21876184 False 1 0;0;0 0.116 False ENSG00000178700 ENSG00000178700 HGNC:27309 DLG1 gene DLG1 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000075711 ENSG00000075711 HGNC:2900 DLST gene DLST Expert Review Red Molecular autopsy Unknown No OMIM phenotype?Familial Alzheimer disease 27604308;12805207;1943690 False 1 0;0;0 0.116 False ENSG00000119689 ENSG00000119689 HGNC:2911 DMGDH gene DMGDH Expert Review Red Molecular autopsy Unknown Dimethylglycine dehydrogenase deficiency 605850;Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308;11231903 - case study;18937046 - functional study expressing the variant form in E.coli showed a decrease in activity False 1 0;0;0 0.116 False ENSG00000132837 ENSG00000132837 HGNC:24475 DMPK gene DMPK Expert Review Red Molecular autopsy Unknown syndromic DCM False 1 0;0;0 0.116 False ENSG00000104936 ENSG00000104936 HGNC:2933 DNM2 gene DNM2 Expert Review Red Molecular autopsy Unknown Disorders of mitochondrial DNA maintenance and integrity False 1 0;0;0 0.116 False ENSG00000079805 ENSG00000079805 HGNC:2974 DPEP1 gene DPEP1 Expert Review Red Molecular autopsy Unknown Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) 27604308 False 1 0;0;0 0.116 False ENSG00000015413 ENSG00000015413 HGNC:3002 DPP6 gene DPP6 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular fibrillation, paroxysmal familial, 2, False 1 0;0;0 0.116 False ENSG00000130226 ENSG00000130226 HGNC:3010 DTD1 gene DTD1 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000125821 ENSG00000125821 HGNC:16219 DTNA gene DTNA Expert Review Red;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 1, with or without congenital heart defects, False 1 0;100;0 0.116 False ENSG00000134769 ENSG00000134769 HGNC:3057 DUX4 gene DUX4 Expert Review Red Molecular autopsy Unknown Facioscapulohumeral Muscular Dystrophy 1A 27922500;27816329;28040729;27672539;27841748 False 1 0;0;0 0.116 False Other - please provide details in the comments ENSG00000258389 ENSG00000260596 HGNC:50800 ECSIT gene ECSIT Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000130159 ENSG00000130159 HGNC:29548 EDN3 gene EDN3 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCHS;Central hypoventilation syndrome, congenital, 209880 False 1 0;0;0 0.116 False ENSG00000124205 ENSG00000124205 HGNC:3178 EGF gene EGF Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000138798 ENSG00000138798 HGNC:3229 EMD gene EMD Expert Review Red;London South GLH Molecular autopsy X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 False 1 0;100;0 0.116 False ENSG00000102119 ENSG00000102119 HGNC:3331 ERCC6L2 gene ERCC6L2 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000182150 ENSG00000182150 HGNC:26922 FBP2 gene FBP2 Expert Review Red Molecular autopsy Unknown isolated lactic acidosis False 1 0;0;0 0.116 False ENSG00000130957 ENSG00000130957 HGNC:3607 FDX2 gene FDX2 Expert Review Red Molecular autopsy Unknown No OMIM phenotype?Mitochondrial myopathy with lactic acidosis, association with, 255125 False 1 0;0;0 0.116 False ENSG00000267673 ENSG00000267673 HGNC:30546 FHL2 gene FHL2 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000115641 ENSG00000115641 HGNC:3703 FOLR2 gene FOLR2 Expert Review Red Molecular autopsy Unknown 14711912;19587340 False 1 0;0;0 0.116 False ENSG00000165457 ENSG00000165457 HGNC:3793 FOLR3 gene FOLR3 Expert Review Red Molecular autopsy Unknown 8110752 False 1 0;0;0 0.116 False ENSG00000110203 ENSG00000110203 HGNC:3795 FXYD2 gene FXYD2 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal 154020;Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000137731 ENSG00000137731 HGNC:4026 GALNT12 gene GALNT12 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies));GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);{Colorectal cancer, susceptibility to, 1} 608812 27604308 False 1 0;0;0 0.116 False ENSG00000119514 ENSG00000119514 HGNC:19877 GATB gene GATB Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000257218 ENSG00000257218 HGNC:25068 GCSH gene GCSH Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 27604308;16450403 False 1 0;0;0 0.116 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDNF gene GDNF Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Central hypoventilation syndrome, 209880;CCHS False 1 0;0;0 0.116 False ENSG00000168621 ENSG00000168621 HGNC:4232 GFM2 gene GFM2 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000164347 ENSG00000164347 HGNC:29682 GGT1 gene GGT1 Expert Review Red Molecular autopsy Unknown Gamma-glutamyl transpeptidase deficiency;Glutathionuria (Disorders of the gamma-glutamyl cycle) 27604308;24816252 False 1 0;0;0 0.116 False ENSG00000100031 ENSG00000100031 HGNC:4250 GJA5 gene GJA5 London South GLH Molecular autopsy False 1 0;100;0 0.116 False ENSG00000143140 ENSG00000265107 HGNC:4279 GLS gene GLS Expert Review Red Molecular autopsy Unknown Glucosidase 1 deficiency (Disorders of protein N-glycosylation) 27604308 False 1 0;0;0 0.116 False ENSG00000115419 ENSG00000115419 HGNC:4331 GORAB gene GORAB Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum 26000619 False 1 0;0;0 0.116 False ENSG00000120370 ENSG00000120370 HGNC:25676 HAL gene HAL Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000084110 ENSG00000084110 HGNC:4806 HARS2 gene HARS2 Expert Review Red Molecular autopsy 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));Perrault syndrome 2, 614926;?Perrault syndrome 2 614926 27604308 False 1 0;0;0 0.116 False ENSG00000112855 ENSG00000112855 HGNC:4817 HSPA9 gene HSPA9 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia;Epiphyseal, Vertebral, Ear, Nose, plus associated findings PMID: 26598328 False 1 0;0;0 0.116 False ENSG00000113013 ENSG00000113013 HGNC:5244 HYKK gene HYKK Expert Review Red Molecular autopsy Unknown Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000188266 ENSG00000188266 HGNC:34403 IDH3B gene IDH3B Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000101365 ENSG00000101365 HGNC:5385 ILK gene ILK Expert Review Red;London South GLH Molecular autopsy Unknown False 1 0;100;0 0.116 False ENSG00000166333 ENSG00000166333 HGNC:6040 ISCA2 gene ISCA2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal infantile neurodegenerative mitochondrial disorder PMID: 25539947 False 1 0;0;0 0.116 False ENSG00000165898 ENSG00000165898 HGNC:19857 KCNA5 gene KCNA5 London South GLH Molecular autopsy False 1 0;100;0 0.116 False ENSG00000130037 ENSG00000130037 HGNC:6224 KCND2 gene KCND2 Expert Review Red Molecular autopsy Unknown J-wave syndrome with sudden cardiac death;sudden arrhythmic death;sudden cardiac arrest False 1 0;0;0 0.116 False ENSG00000184408 ENSG00000184408 HGNC:6238 KCND3 gene KCND3 Expert Review Red;London South GLH Molecular autopsy Unknown sudden unexplained death;arrhythmia;Brugada/Brugada like syndrome;sudden cardiac arrest 22457051 False 1 0;100;0 0.116 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE5 gene KCNE5 Expert Review Red Molecular autopsy Unknown Idiopathic ventricular fibrillation;Brugada syndrome;atrial fibrillation (Ohno (2011) Circ Arrhythm Electrophysiol 4,352) False 1 0;0;0 0.116 False ENSG00000176076 ENSG00000176076 HGNC:6241 KHK gene KHK Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Essential fructosuria (Disorders of fructose metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000138030 ENSG00000138030 HGNC:6315 KLF10 gene KLF10 Expert Review Red;London South GLH Molecular autopsy Unknown Hypertrophic cardiomyopathy False 1 0;100;0 0.116 False ENSG00000155090 ENSG00000155090 HGNC:11810 LACTB gene LACTB Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000103642 ENSG00000103642 HGNC:16468 LAMA4 gene LAMA4 Expert Review Red;London South GLH Molecular autopsy Unknown False 1 0;100;0 0.116 False ENSG00000112769 ENSG00000112769 HGNC:6484 LARS gene LARS Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000133706 ENSG00000133706 HGNC:6512 LETM1 gene LETM1 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000168924 ENSG00000168924 HGNC:6556 LFNG gene LFNG Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);?Spondylocostal dysostosis 3, autosomal recessive 609813;?Spondylocostal dysostosis 3, autosomal recessive, 609813;LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16385447 False 1 0;0;0 0.116 False ENSG00000106003 ENSG00000106003 HGNC:6560 LIPI gene LIPI Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypertriglyceridemia, susceptibility to}, 145750;Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) 27604308 False 1 0;0;0 0.116 False ENSG00000188992 ENSG00000188992 HGNC:18821 LIPT2 gene LIPT2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.116 False ENSG00000175536 ENSG00000175536 HGNC:37216 LRP5 gene LRP5 Expert Review Red Molecular autopsy Unknown short qt 30309679 False 1 0;0;0 0.116 False Other ENSG00000162337 ENSG00000162337 HGNC:6697 LYRM4 gene LYRM4 Expert Review Red Molecular autopsy Unknown ?Combined oxidative phosphorylation deficiency 19, 615595 False 1 0;0;0 0.116 False ENSG00000214113 ENSG00000214113 HGNC:21365 LYRM7 gene LYRM7 Expert Review Red Molecular autopsy Unknown Isolated complex III deficiency False 1 0;0;0 0.116 False ENSG00000186687 ENSG00000186687 HGNC:28072 MECR gene MECR Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000116353 ENSG00000116353 HGNC:19691 MIB1 gene MIB1 Expert Review Red;London South GLH Molecular autopsy Unknown Left ventricular noncompaction 7 False 1 0;100;0 0.116 False ENSG00000101752 ENSG00000101752 HGNC:21086 MPC1 gene MPC1 Expert Review Red Molecular autopsy Unknown Mitochondrial pyruvate carrier deficiency, 614741 False 1 0;0;0 0.116 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPO gene MPO Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000005381 ENSG00000005381 HGNC:7218 MRPL12 gene MRPL12 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL40 gene MRPL40 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPS16 gene MRPS16 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2, 610498;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS 27604308 False 1 0;0;0 0.116 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS2 gene MRPS2 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS23 gene MRPS23 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies PMID: 26741492 False 1 0;0;0 0.116 False ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS7 gene MRPS7 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000125445 ENSG00000125445 HGNC:14499 MTHFD1 gene MTHFD1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal {Abruptio placentae, susceptibility to};{Spina bifida, folate-sensitive, susceptibility to} 601634 AR False 1 0;0;0 0.116 False ENSG00000100714 ENSG00000100714 HGNC:7432 MYO6 gene MYO6 Expert Review Red Molecular autopsy Unknown Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy False 1 0;0;0 0.116 False ENSG00000196586 ENSG00000196586 HGNC:7605 MYOM1 gene MYOM1 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 Expert Review Red;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 16, False 1 0;100;0 0.116 False ENSG00000172399 ENSG00000172399 HGNC:1330 NADK2 gene NADK2 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000152620 ENSG00000152620 HGNC:26404 NAT8L gene NAT8L Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?N-acetylaspartate deficiency 614063 19807691 False 1 0;0;0 0.116 False ENSG00000185818 ENSG00000185818 HGNC:26742 NAXE gene NAXE Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA12 gene NDUFA12 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex 1 deficiency,256000;Leigh syndrome due to mitochondrial complex 1 deficiency, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 1 0;0;0 0.116 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;{Thyroid carcinoma, Hurthle cell}, 607464;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA3 gene NDUFA3 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA5 gene NDUFA5 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA6 gene NDUFA6 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA7 gene NDUFA7 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFA8 gene NDUFA8 Expert Review Red Molecular autopsy Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 1 0;0;0 0.116 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAB1 gene NDUFAB1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFB1 gene NDUFB1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB10 gene NDUFB10 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB2 gene NDUFB2 Expert Review Red Molecular autopsy Unknown Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Red Molecular autopsy Unknown Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Red Molecular autopsy Unknown Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFB7 gene NDUFB7 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB8 gene NDUFB8 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFC1 gene NDUFC1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFC2 gene NDUFC2 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS5 gene NDUFS5 Expert Review Red Molecular autopsy Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Red Molecular autopsy Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;0;0 0.116 False ENSG00000160194 ENSG00000160194 HGNC:7719 NEBL gene NEBL Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000078114 ENSG00000078114 HGNC:16932 NFS1 gene NFS1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000244005 ENSG00000244005 HGNC:15910 NKX2-5 gene NKX2-5 Expert Review Red;London South GLH Molecular autopsy Unknown Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 False 1 0;100;0 0.116 False ENSG00000183072 ENSG00000183072 HGNC:2488 NNT gene NNT Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000112992 ENSG00000112992 HGNC:7863 NOS1AP gene NOS1AP Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000198929 ENSG00000198929 HGNC:16859 NPPA gene NPPA Expert Review Red;London South GLH Molecular autopsy Unknown Dilated cardiomyopathy 23275345;doi:10. 1007/ s12265-016-9673-5 False 1 0;100;0 0.116 False ENSG00000175206 ENSG00000175206 HGNC:7939 NT5C gene NT5C Expert Review Red Molecular autopsy Unknown Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000125458 ENSG00000125458 HGNC:17144 NUP62 gene NUP62 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Infantile striatal necrosis (Other metabolic disorders);Striatonigral degeneration, infantile, 271930 27604308 False 1 0;0;0 0.116 False ENSG00000213024 ENSG00000213024 HGNC:8066 NUS1 gene NUS1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type 1aa 617082 False 1 0;0;0 0.116 False ENSG00000153989 ENSG00000153989 HGNC:21042 OGDH gene OGDH Expert Review Red Molecular autopsy Unknown 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle);Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1);(OXOGLUTARIC ACIDURIA);Alpha-ketoglutarate dehydrogenase deficiency, 203740 27604308 False 1 0;0;0 0.116 False ENSG00000105953 ENSG00000105953 HGNC:8124 OXA1L gene OXA1L Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000155463 ENSG00000155463 HGNC:8526 PABPN1 gene PABPN1 Expert Review Red Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, 164300;Oculopharyngeal muscular dystrophy False 1 0;0;0 0.116 False ENSG00000100836 ENSG00000100836 HGNC:8565 PDK1 gene PDK1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK3 gene PDK3 Expert Review Red Molecular autopsy 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;?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000067992 ENSG00000067992 HGNC:8811 PDK4 gene PDK4 Expert Review Red Molecular autopsy Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDLIM3 gene PDLIM3 Expert Review Red;London South GLH Molecular autopsy Unknown False 1 0;100;0 0.116 False ENSG00000154553 ENSG00000154553 HGNC:20767 PDP2 gene PDP2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDXK gene PDXK Expert Review Red Molecular autopsy Unknown Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000160209 ENSG00000160209 HGNC:8819 PEX11A gene PEX11A Expert Review Red Molecular autopsy Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;25608554;11839773 False 1 0;0;0 0.116 False ENSG00000166821 ENSG00000166821 HGNC:8852 PHKG1 gene PHKG1 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000164776 ENSG00000164776 HGNC:8930 PHYKPL gene PHYKPL Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism);[?Phosphohydroxylysinuria] 615011 27604308 False 1 0;0;0 0.116 False ENSG00000175309 ENSG00000175309 HGNC:28249 PIGW gene PIGW Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Hyperphosphatasia with mental retardation syndrome 5 24367057 False 1 0;0;0 0.116 False ENSG00000184886 ENSG00000277161 HGNC:23213 PITRM1 gene PITRM1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal mental retardation, spinocerebellar ataxia, cognitive decline and psychosis PMID: 26697887 False 1 100;0;0 0.116 False ENSG00000107959 ENSG00000107959 HGNC:17663 PLEC gene PLEC Expert Review Red Molecular autopsy Unknown Muscular dystrophy with epidermolysis bullosa simplex, 226670 False 1 0;0;0 0.116 False ENSG00000178209 ENSG00000178209 HGNC:9069 PNLIP gene PNLIP Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism);Pancreatic lipase deficiency 614338 27604308 False 1 0;0;0 0.116 False ENSG00000175535 ENSG00000175535 HGNC:9155 PNPLA4 gene PNPLA4 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000006757 ENSG00000006757 HGNC:24887 PNPLA8 gene PNPLA8 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000135241 ENSG00000135241 HGNC:28900 POP1 gene POP1 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000104356 ENSG00000104356 HGNC:30129 PPM1B gene PPM1B Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;15913950;11524703 False 1 0;0;0 0.116 False ENSG00000138032 ENSG00000138032 HGNC:9276 PPM1K gene PPM1K Expert Review Red Molecular autopsy Unknown ?Maple syrup urine disease, mild variant 615135 False 1 0;0;0 0.116 False ENSG00000163644 ENSG00000163644 HGNC:25415 PRDM16 gene PRDM16 Expert Review Red;London South GLH Molecular autopsy Unknown Left ventricular noncompaction 8;Cardiomyopathy, dilated, 1LL False 1 0;100;0 0.116 False ENSG00000142611 ENSG00000142611 HGNC:14000 PREPL gene PREPL Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome 606407;Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 1 0;0;0 0.116 False ENSG00000138078 ENSG00000138078 HGNC:30228 PTCD1 gene PTCD1 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTPRZ1 gene PTPRZ1 Expert Review Red Molecular autopsy Unknown Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism);{H. pylori infection, susceptibility to} 600263 27604308 False 1 0;0;0 0.116 False ENSG00000106278 ENSG00000106278 HGNC:9685 QRSL1 gene QRSL1 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000130348 ENSG00000130348 HGNC:21020 RANGRF gene RANGRF Expert Review Red;London South GLH Molecular autopsy Unknown Brugada/Brugada like syndrome False 1 0;100;0 0.116 False ENSG00000108961 ENSG00000108961 HGNC:17679 RASA2 gene RASA2 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome? PMID: 25049390 False 1 0;0;0 0.116 False ENSG00000155903 ENSG00000155903 HGNC:9872 RET gene RET Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCHS;Central hypoventilation syndrome, congenital, 209880 False 1 0;0;0 0.116 False ENSG00000165731 ENSG00000165731 HGNC:9967 RTN4IP1 gene RTN4IP1 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000130347 ENSG00000130347 HGNC:18647 SARDH gene SARDH Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal [Sarcosinemia] 268900;Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 Expert Review Red Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal [High density lipoprotein cholesterol level QTL6] 610762;Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) 27604308 False 1 0;0;0 0.116 False ENSG00000073060 ENSG00000073060 HGNC:1664 SCN2B gene SCN2B Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN4B gene SCN4B Expert Review Red;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-10 30420954;19862833;17592081;16301704 False 1 0;50;50 0.116 False Other ENSG00000177098 ENSG00000177098 HGNC:10592 SFXN4 gene SFXN4 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000183605 ENSG00000183605 HGNC:16088 SGCB gene SGCB Expert Review Red;London South GLH Molecular autopsy Unknown Dilated cardiomyopathy doi:10. 1007/ s12265-016-9673-5;23349452 False 1 0;100;0 0.116 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCG gene SGCG London South GLH Molecular autopsy False 1 0;100;0 0.116 False ENSG00000102683 ENSG00000102683 HGNC:10809 SHPK gene SHPK Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency (Other metabolic disorders);[Sedoheptulokinase deficiency] 617213 27604308 False 1 0;0;0 0.116 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC22A4 gene SLC22A4 Expert Review Red Molecular autopsy Unknown 24816252 False 1 0;0;0 0.116 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC25A2 gene SLC25A2 Expert Review Red Molecular autopsy Unknown Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000120329 ENSG00000120329 HGNC:22921 SLC25A40 gene SLC25A40 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC25A42 gene SLC25A42 Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC27A5 gene SLC27A5 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) 27604308 False 1 0;0;0 0.116 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC35A3 gene SLC35A3 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures 24031089 False 1 0;0;0 0.116 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC36A2 gene SLC36A2 Expert Review Red Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic 242600;Hyperglycinuria 138500;Hyperglycinuria AR 27604308;19033659 False 1 0;0;0 0.116 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC52A1 gene SLC52A1 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency 615026 21089064 False 1 0;0;0 0.116 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC6A20 gene SLC6A20 Expert Review Red Molecular autopsy BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria 24816252;19033659 False 1 0;0;100 0.116 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A4 gene SLC6A4 Expert Review Red Molecular autopsy Unknown Sudden infant death syndrome 12966525;21122164 False 1 0;0;0 0.116 False ENSG00000108576 ENSG00000108576 HGNC:11050 SLCO1B1 gene SLCO1B1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 24816252;22232210 False 1 0;0;0 0.116 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 22232210 False 1 0;0;0 0.116 False ENSG00000111700 ENSG00000111700 HGNC:10961 SLMAP gene SLMAP Expert Review Red Molecular autopsy Unknown Brugada/Brugada like syndrome False 1 0;0;0 0.116 False ENSG00000163681 ENSG00000163681 HGNC:16643 SMCHD1 gene SMCHD1 Expert Review Red Molecular autopsy Unknown Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 False 1 0;0;0 0.116 False ENSG00000101596 ENSG00000101596 HGNC:29090 SRRT gene SRRT Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000087087 ENSG00000087087 HGNC:24101 STAT2 gene STAT2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal elongated mitochondria;severe neurological deterioration following viral infection PMID: 26122121 False 1 0;0;0 0.116 False ENSG00000170581 ENSG00000170581 HGNC:11363 STT3B gene STT3B Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;0 0.116 False ENSG00000163527 ENSG00000163527 HGNC:30611 SUCLG2 gene SUCLG2 Expert Review Red Molecular autopsy Unknown Succinyl-CoA synthetase deficiency (Other metabolic disorders);No OMIM phenotype 27604308 False 1 0;0;0 0.116 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUGCT gene SUGCT Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria type III (Organic acidurias);Glutaric aciduria type III 231690 27604308 False 1 0;0;0 0.116 False ENSG00000175600 ENSG00000175600 HGNC:16001 SYNE2 gene SYNE2 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss Muscular Dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999;syndromic DCM False 1 0;0;0 0.116 False ENSG00000054654 ENSG00000054654 HGNC:17084 TBX20 gene TBX20 London South GLH Molecular autopsy False 1 0;100;0 0.116 False ENSG00000164532 ENSG00000164532 HGNC:11598 TCN1 gene TCN1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism);No OMIM number 27604308 False 1 0;0;0 0.116 False ENSG00000134827 ENSG00000134827 HGNC:11652 TDO2 gene TDO2 Expert Review Red Molecular autopsy Unknown No OMIM number;Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;0 0.116 False ENSG00000151790 ENSG00000151790 HGNC:11708 TGFB3 gene TGFB3 Expert Review Red;London South GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 1 False 1 0;100;0 0.116 False ENSG00000119699 ENSG00000119699 HGNC:11769 TIMM44 gene TIMM44 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000104980 ENSG00000104980 HGNC:17316 TM6SF2 gene TM6SF2 Expert Review Red Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-alcoholic fatty liver disease 28235613 False 1 0;0;0 0.116 False ENSG00000213996 ENSG00000213996 HGNC:11861 TMEM126A gene TMEM126A Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Optic atrophy-7, 612989;Optic atrophy 7;612989 27604308 False 1 0;0;0 0.116 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM199 gene TMEM199 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIp 616829 26833330 False 1 0;0;0 0.116 False ENSG00000244045 ENSG00000244045 HGNC:18085 TMPO gene TMPO Expert Review Red;London South GLH;North West GLH Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant 16247757 False 1 0;50;50 0.116 False ENSG00000120802 ENSG00000120802 HGNC:11875 TPMT gene TPMT Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism);{Thiopurines, poor metabolism of, 1} 610460 27604308 False 1 0;0;0 0.116 False ENSG00000137364 ENSG00000137364 HGNC:12014 TRAP1 gene TRAP1 Expert Review Red Molecular autopsy Unknown PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 1 0;0;0 0.116 False ENSG00000126602 ENSG00000126602 HGNC:16264 TRAPPC11 gene TRAPPC11 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract;infantile-onset muscle weakness;Muscular dystrophy, limb-girdle, type 2S 23830518;26912795 False 1 0;0;0 0.116 False ENSG00000168538 ENSG00000168538 HGNC:25751 TREH gene TREH Expert Review Red Molecular autopsy Unknown Trehalase deficiency (Other carbohydrate disorders) 27604308 False 1 0;0;0 0.116 False ENSG00000118094 ENSG00000118094 HGNC:12266 TRIM63 gene TRIM63 Expert Review Red Molecular autopsy Unknown Hypertrophic cardiomyopathy False 1 0;0;0 0.116 False ENSG00000158022 ENSG00000158022 HGNC:16007 TRIT1 gene TRIT1 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Multiple Respiratory-Chain Deficiencies PMID: 26189817 False 1 0;0;0 0.116 False ENSG00000126814 ENSG00000126814 HGNC:23141 TSPYL1 gene TSPYL1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome,608800;SIDDT False 1 0;0;0 0.116 False ENSG00000189241 ENSG00000189241 HGNC:12382 TXN2 gene TXN2 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 PMID: 26626369 False 1 0;0;0 0.116 False ENSG00000100348 ENSG00000100348 HGNC:17772 TXNRD2 gene TXNRD2 Expert Review Red;London South GLH Molecular autopsy Unknown False 1 0;100;0 0.116 False ENSG00000184470 ENSG00000184470 HGNC:18155 UPB1 gene UPB1 Expert Review Red Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism);Beta-ureidopropionase deficiency 613161 27604308 False 1 0;0;0 0.116 False ENSG00000100024 ENSG00000100024 HGNC:16297 UQCC2 gene UQCC2 Expert Review Red Molecular autopsy Unknown Isolated complex III deficiency False 1 0;0;0 0.116 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCC3 gene UQCC3 Expert Review Red Molecular autopsy Unknown ?Mitochondrial complex III deficiency, nuclear type, 616111;Isolated complex III deficiency False 1 0;0;0 0.116 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRC2 gene UQCRC2 Expert Review Red Molecular autopsy Unknown Mitochondrial complex III deficiency, nuclear type 5, 615160;Isolated complex III deficiency False 1 0;0;0 0.116 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000169021 ENSG00000169021 HGNC:12587 UQCRH gene UQCRH Expert Review Red Molecular autopsy Unknown No OMIM phenotype False 1 0;0;0 0.116 False ENSG00000173660 ENSG00000173660 HGNC:12590 USF1 gene USF1 Expert Review Red Molecular autopsy Unknown Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) 27604308 False 1 0;0;0 0.116 False ENSG00000158773 ENSG00000158773 HGNC:12593 VPS13C gene VPS13C Expert Review Red Molecular autopsy Unknown False 1 0;0;0 0.116 False ENSG00000129003 ENSG00000129003 HGNC:23594 WARS2 gene WARS2 Expert Review Red Molecular autopsy Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;0 0.116 False ENSG00000116874 ENSG00000116874 HGNC:12730 XK gene XK Expert Review Red Molecular autopsy Unknown syndromic DCM False 1 0;0;0 0.116 False ENSG00000047597 ENSG00000047597 HGNC:12811 DMPK_CTG str DMPK NHS GMS;Expert Review Green;Expert list Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1 160900 False 3 100;0;0 0.116 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 FXN_GAA str FXN NHS GMS;Expert Review Green;Expert list Molecular autopsy BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia 229300 False 3 100;0;0 0.116 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 ISCA-37431-Loss region Expert Review Green Molecular autopsy MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;613675;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb;dysmorphic features, cardiac anomalies and mental retardation;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME False 3 0;0;0 0.116 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss ISCA-37440-Loss region Expert Review Green Molecular autopsy 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 0.116 False 2 44183133 44362502 30 60 cnv_loss 2p21 region (includes PREPL and SLC3A1) Loss