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 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