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 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