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 ABCC6 gene ABCC6 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 28102862;11536079;33005041;34355424 False 3 100;0;0 0.5 False ENSG00000091262 ENSG00000091262 HGNC:57 ADA gene ADA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency MIM#102700;Adenosine deaminase deficiency, partial MIM#102700;disorder of purine metabolism 3684597;3475710;2783588;1680289 False 3 100;0;0 0.5 False ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert Review Green;Literature;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of purine metabolism;Deficiency of adenosine deaminase 2 MONDO:0100317 24552284;35095905 False 3 100;0;0 0.5 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAR gene ADAR Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 29221912;23001123;24262145 False 3 100;0;0 0.5 False ENSG00000160710 ENSG00000160710 HGNC:225 ADSL gene ADSL Expert Review Green;NHS GMS Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal disorder of purine metabolism;Adenylosuccinase deficiency MIM#103050 1302001;22180458;27626380;18524658 False 3 100;0;0 0.5 False ENSG00000239900 ENSG00000239900 HGNC:291 AICDA gene AICDA Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyper-IgM syndrome type 2 MONDO:0011528;Disorders of ectonucleotide and nucleic acid metabolism 10373455;21700883;14962793 False 3 100;0;0 0.5 False ENSG00000111732 ENSG00000111732 HGNC:13203 AK1 gene AK1 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hemolytic anemia due to adenylate kinase deficiency MONDO:0012967;Disorders of purine metabolism 2542324;34321014;9432020;10233365 False 3 100;0;0 0.5 False ENSG00000106992 ENSG00000106992 HGNC:361 AK2 gene AK2 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal reticular dysgenesis MONDO:0009973;Disorders of purine metabolism 19043417;19043416 False 3 100;0;0 0.5 False ENSG00000004455 ENSG00000004455 HGNC:362 AMPD2 gene AMPD2 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia type 9 MONDO:0014351;Disorders of purine metabolism 27066553;23911318 False 3 100;0;0 0.5 False ENSG00000116337 ENSG00000116337 HGNC:469 APRT gene APRT Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenine phosphoribosyltransferase deficiency MONDO:0013869;Disorders of purine metabolism 7915931;2227934;1353080;3680503 False 3 100;0;0 0.5 False ENSG00000198931 ENSG00000198931 HGNC:626 CAD gene CAD Expert list;Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 50, MIM# 616457 25678555;29884839;28007989 False 3 100;0;0 0.5 False ENSG00000084774 ENSG00000084774 HGNC:1424 DHODH gene DHODH Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Miller syndrome MIM#263750;Disorders of pyrimidine metabolism 19915526 False 3 100;0;0 0.5 False ENSG00000102967 ENSG00000102967 HGNC:2867 DPYD gene DPYD Expert Review Green;NHS GMS Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency MONDO:0010130;Disorders of pyrimidine metabolism 8051923;29152729 False 3 100;0;0 0.5 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria MONDO:0009111;Disorders of pyrimidine metabolism 9718352;29054612;30384990 False 3 100;0;0 0.5 False ENSG00000147647 ENSG00000147647 HGNC:3013 ENPP1 gene ENPP1 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cole disease, MIM# 615522;Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312;Arterial calcification, generalized, of infancy, 1, MIM# 208000 20016754;12881724 False 3 100;0;0 0.5 False ENSG00000197594 ENSG00000197594 HGNC:3356 GUK1 gene GUK1 Expert Review Green;Literature Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 39230499 False 3 100;0;0 0.5 True ENSG00000143774 ENSG00000143774 HGNC:4693 HPRT1 gene HPRT1 Expert Review Green Nucleotide metabolism disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome MONDO:0010298;Disorders of purine metabolism 2928313;23975452;20176575 False 3 100;0;0 0.5 False ENSG00000165704 ENSG00000165704 HGNC:5157 IFIH1 gene IFIH1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome 7, MIM#615846;Early-onset Inflammatory Bowel Disease 34185153;24686847 False 3 100;0;0 0.5 False ENSG00000115267 ENSG00000115267 HGNC:18873 IMPDH1 gene IMPDH1 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of purine metabolism;retinitis pigmentosa MONDO:0019200 11875049;16384941;11875050 False 3 100;0;0 0.5 False ENSG00000106348 ENSG00000106348 HGNC:6052 ITPA gene ITPA Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of purine metabolism;Inosine triphosphatase deficiency MIM#613850;Developmental and epileptic encephalopathy 35 MIM#616647 12384777;27604308 False 3 100;0;0 0.5 False ENSG00000125877 ENSG00000125877 HGNC:6176 NT5C3A gene NT5C3A Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal disorder of pyrimidine metabolism;Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 11369620 False 3 100;0;0 0.5 False ENSG00000122643 ENSG00000122643 HGNC:17820 NT5E gene NT5E Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;hereditary arterial and articular multiple calcification syndrome MONDO:0008895 21288095 False 3 100;0;0 0.5 False ENSG00000135318 ENSG00000135318 HGNC:8021 OAS1 gene OAS1 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of ectonucleotide and nucleic acid metabolism;pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840 29455859;34145065 False 3 100;0;0 0.5 False ENSG00000089127 ENSG00000089127 HGNC:8086 PNP gene PNP Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179;Disorders of purine metabolism 1384322;11453975;32695102;3029074;32514656 False 3 100;0;0 0.5 False ENSG00000198805 ENSG00000198805 HGNC:7892 PRPS1 gene PRPS1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females PRPS1 deficiency disorder MONDO:0100061;Disorders of purine metabolism 20380929;17701900 False 3 100;0;0 0.5 False ENSG00000147224 ENSG00000147224 HGNC:9462 RNASEH2A gene RNASEH2A Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 25604658;23592335;20301648 False 3 100;0;0 0.5 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 33307271;29239743;16845400 False 3 100;0;0 0.5 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 24183309;23322642;16845400 False 3 100;0;0 0.5 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;cystic leukoencephalopathy without megalencephaly MONDO:0013058 19525954;29336640;15851732;27091087;31349848;18545798 False 3 100;0;0 0.5 False ENSG00000026297 ENSG00000026297 HGNC:21686 SAMHD1 gene SAMHD1 Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial nucleotide pool maintenance;Aicardi-Goutieres syndrome MONDO:0018866 33307271;21102625;19525956;20301648 False 3 100;0;0 0.5 False ENSG00000101347 ENSG00000101347 HGNC:15925 SLC22A12 gene SLC22A12 Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hereditary renal hypouricemia MONDO:0009071;Disorders of purine metabolism 14655203;26821810;34756726;34829836;34412930 False 3 100;0;0 0.5 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC29A3 gene SLC29A3 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;H syndrome MONDO:0011273 22238637;18940313;19336477 False 3 100;0;0 0.5 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A9 gene SLC2A9 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hereditary renal hypouricemia MONDO:0009071;Disorders of purine metabolism 19926891;19026395;25966807;21256783;21810765 False 3 100;0;0 0.5 False ENSG00000109667 ENSG00000109667 HGNC:13446 TMEM173 gene TMEM173 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STING-associated vasculopathy with onset in infancy MONDO:0014405 25029335;25401470 False 3 100;0;0 0.5 False ENSG00000184584 ENSG00000184584 HGNC:27962 TREX1 gene TREX1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorder of nucleotide metabolism;Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 21937424;17357087;16845398 False 3 100;0;0 0.5 False ENSG00000213689 ENSG00000213689 HGNC:12269 UMPS gene UMPS Expert Review;Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Orotic aciduria, MIM# 258900 33489760;9042911 False 3 100;0;0 0.5 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNG gene UNG Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyper-IgM syndrome type 5 MONDO:0011971;Disorders of ectonucleotide and nucleic acid metabolism 12958596;23585684;32135276 False 3 100;0;0 0.5 False ENSG00000076248 ENSG00000076248 HGNC:12572 UPB1 gene UPB1 Expert Review Green;Victorian Clinical Genetics Services Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency MONDO:0013164;Disorders of pyrimidine metabolism 24526388;1796483;27604308;15385443;25638458;22525402 False 3 100;0;0 0.5 False ENSG00000100024 ENSG00000100024 HGNC:16297 XDH gene XDH Expert Review Green Nucleotide metabolism disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal xanthinuria type I MONDO:0010209;Disorders of purine metabolism 32071838;29723117 False 3 100;0;0 0.5 False ENSG00000158125 ENSG00000158125 HGNC:12805