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 ABCA4 gene ABCA4 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 3 MIM#604116;Stargardt disease 1 MIM#248200;Retinal dystrophy, early-onset severe MIM#248200 False 1 0;0;100 1.1566 True ENSG00000198691 ENSG00000198691 HGNC:34 ABCC6 gene ABCC6 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum MIM#264800;Arterial calcification, generalized, of infancy, 2 MIM#614473 False 1 0;0;100 1.1566 False ENSG00000091262 ENSG00000091262 HGNC:57 ACSF3 gene ACSF3 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria, MIM#614265 30740739 False 1 0;0;100 1.1566 True ENSG00000176715 ENSG00000176715 HGNC:27288 ACY1 gene ACY1 Expert Review;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aminoacylase 1 deficiency, MIM# 609924 24117009;16465618;16274666;17562838 False 1 100;0;0 1.1566 True ENSG00000243989 ENSG00000243989 HGNC:177 ALG2 gene ALG2 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228;Congenital disorder of glycosylation, type Ii, MIM# 607906 23404334;24461433;12684507 False 1 0;67;33 1.1566 True ENSG00000119523 ENSG00000119523 HGNC:23159 BCAP31 gene BCAP31 Expert Review;Expert Review Red Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, dystonia, and cerebral hypomyelination, MIM# 300475 31330203;24011989;33603160 False 1 100;0;0 1.1566 True ENSG00000185825 ENSG00000185825 HGNC:16695 C6 gene C6 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C6 deficiency, 612446 (3) 31440263;23537992;17257682;22668955;32670577 False 1 0;50;50 1.1566 True ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C7 deficiency, 610102 (3) 22206826;20591074;17407100;16771861 False 1 0;50;50 1.1566 True ENSG00000112936 ENSG00000112936 HGNC:1346 C8B gene C8B Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type II (MIM#613789) 8098723;33563058;27183977;9476133;19434484;31440263 False 1 0;100;0 1.1566 True ENSG00000021852 ENSG00000021852 HGNC:1353 CARD9 gene CARD9 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 103, susceptibility to fungal infection, MIM# 212050 30136218 False 1 0;50;50 1.1566 True ENSG00000187796 ENSG00000187796 HGNC:16391 CBS gene CBS Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types, 236200 (3) False 1 0;100;0 1.1566 False ENSG00000160200 ENSG00000160200 HGNC:1550 CD81 gene CD81 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, 613496 (3) 20237408;35849269 False 1 0;100;0 1.1566 True ENSG00000110651 ENSG00000110651 HGNC:1701 CHM gene CHM Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Choroideremia (MIM#303100) 33110609;27820636 False 1 0;67;33 1.1566 True ENSG00000188419 ENSG00000188419 HGNC:1940 CIB2 gene CIB2 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 48 MIM#609439" 29112224 False 1 0;0;100 1.1566 True ENSG00000136425 ENSG00000136425 HGNC:24579 COG5 gene COG5 Expert Review;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi, MIM# 613612 32174980;31572517;23228021 False 1 100;0;0 1.1566 True ENSG00000164597 ENSG00000164597 HGNC:14857 COL2A1 gene COL2A1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondyloperipheral dysplasia, MIM #271700 32896647;31755234 False 1 0;50;50 1.1566 True ENSG00000139219 ENSG00000139219 HGNC:2200 CSMD1 gene CSMD1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 PMID:38816421 False 1 100;0;0 1.1566 True ENSG00000183117 ENSG00000183117 HGNC:14026 CYP21A2 gene CYP21A2 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (MIM#201910) False 1 0;0;100 1.1566 True ENSG00000231852 ENSG00000231852 HGNC:2600 DSTYK gene DSTYK Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, MIM# 270750 28157540;23862974 False 1 0;0;100 1.1566 True ENSG00000133059 ENSG00000133059 HGNC:29043 EMG1 gene EMG1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome, 211180 (3) 19463982 False 1 0;0;100 1.1566 True ENSG00000126749 ENSG00000126749 HGNC:16912 EYS gene EYS Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 25 (MIM#602772) 31074760;20537394;31074760 False 1 0;33;67 1.1566 True ENSG00000188107 ENSG00000188107 HGNC:21555 F11 gene F11 Expert Review Red;Literature Prepair 1000+ Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Factor XI deficiency, autosomal recessive, (MIM#612416) 18446632;15026311;27723456 False 1 0;50;50 1.1566 True ENSG00000088926 ENSG00000088926 HGNC:3529 F8 gene F8 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hemophilia A, 306700 (3) False 1 0;0;100 1.1566 True ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hemophilia B, 306900 (3) False 1 0;0;100 1.1566 True ENSG00000101981 ENSG00000101981 HGNC:3551 FAM161A gene FAM161A Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 28, MIM #606068 False 1 0;0;100 1.1566 False ENSG00000170264 ENSG00000170264 HGNC:25808 FITM2 gene FITM2 Expert list;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Siddiqi syndrome MIM#618635 30214770;28067622;30288795 False 1 0;0;0 1.1566 False ENSG00000197296 ENSG00000197296 HGNC:16135 FTCD gene FTCD Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency (MIM#229100) False 1 0;33;67 1.1566 True ENSG00000160282 ENSG00000160282 HGNC:3974 G6PD gene G6PD Expert Review Red;Literature Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemolytic anaemia, G6PD deficient (favism) (MIM#300908) False 1 0;50;50 1.1566 True ENSG00000160211 ENSG00000160211 HGNC:4057 GALK1 gene GALK1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Galactokinase deficiency with cataracts (MIM#230200)" 32807972 False 1 0;50;50 1.1566 True ENSG00000108479 ENSG00000108479 HGNC:4118 GJB2 gene GJB2 Expert Review Red;Literature Prepair 1000+ Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Bart-Pumphrey syndrome, MIM#149200;Deafness, autosomal dominant 3A, MIM#601544;Deafness, autosomal recessive 1A, MIM#220290;Hystrix-like ichthyosis with deafness, MIM#602540;Keratitis-ichthyosis-deafness syndrome, MIM#148210;Keratoderma, palmoplantar, with deafness, MIM#148350;Vohwinkel syndrome, MIM# 124500 False 1 0;50;50 1.1566 True ENSG00000165474 ENSG00000165474 HGNC:4284 GK gene GK Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency, 307030 (3) 33212314;16549535;10851254;9719371;8651297 False 1 0;50;50 1.1566 True ENSG00000198814 ENSG00000198814 HGNC:4289 GP1BA gene GP1BA Expert Review Red;Literature Prepair 1000+ Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS);von Willebrand disease, platelet-type, (MIM#177820), AD (VWD);MONDO:0008332;Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS);MONDO:0007930 21173099;24934643;18081445 False 1 0;50;50 1.1566 True ENSG00000185245 ENSG00000185245 HGNC:4439 GP9 gene GP9 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Bernard-Soulier syndrome, type C (MIM#231200)" 8049428;33553065;32030720;31484196 False 1 0;50;50 1.1566 True ENSG00000169704 ENSG00000169704 HGNC:4444 GRHPR gene GRHPR Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II (MIM#260000) 28569194;10484776;10484776;24116921;20301742;28569194 False 1 0;67;33 1.1566 True ENSG00000137106 ENSG00000137106 HGNC:4570 GTPBP2 gene GTPBP2 Expert Review;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, MIM#617988 30790272;26675814;29449720 False 1 100;0;0 1.1566 True ENSG00000172432 ENSG00000172432 HGNC:4670 GYS2 gene GYS2 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver, 240600 (3) 18341095;32395408 False 1 0;50;50 1.1566 True ENSG00000111713 ENSG00000111713 HGNC:4707 HBA1 gene HBA1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Erythrocytosis 7, MIM# 617981;Heinz body anemias, alpha-, MIM# 140700;Methemoglobinemia, alpha type , MIM#617973;Thalassemias, alpha-, MIM# 604131;Hemoglobin H disease, nondeletional, MIM# 613978 21381239;11722414;36907606 False 1 0;33;67 1.1566 True ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Erythrocytosis 7, MIM# 617981;Heinz body anaemia, MIM# 140700;Haemoglobin H disease, deletional and nondeletional, MIM# 613978;Thalassaemia, alpha-, MIM# 604131 21345100;12393486;23715323;6725554;6725554;36907606 False 1 0;33;67 1.1566 True ENSG00000188536 ENSG00000188536 HGNC:4824 HFE gene HFE Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hemochromatosis (MIM#235200) False 1 0;0;100 1.1566 True ENSG00000010704 ENSG00000010704 HGNC:4886 HGD gene HGD Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alkaptonuria (MIM#203500) 25804398 False 1 0;0;100 1.1566 True ENSG00000113924 ENSG00000113924 HGNC:4892 HOGA1 gene HOGA1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III (MIM#613616) 31123811 False 1 0;50;50 1.1566 True ENSG00000241935 ENSG00000241935 HGNC:25155 HYAL1 gene HYAL1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX (MIM#601492) 10339581;18344557;21559944 False 1 0;0;100 1.1566 True ENSG00000114378 ENSG00000114378 HGNC:5320 IGFBP7 gene IGFBP7 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, MIM#614224 34519236;31730227;32429784 False 1 0;0;100 1.1566 True ENSG00000163453 ENSG00000163453 HGNC:5476 IMPG2 gene IMPG2 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 56, MIM #613801 False 1 100;0;0 1.1566 False ENSG00000081148 ENSG00000081148 HGNC:18362 ISCA1 gene ISCA1 Expert Review Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613" 32092383;30113620;30105122;31016283;28356563 False 1 100;0;0 1.1566 False ENSG00000135070 ENSG00000135070 HGNC:28660 ITGA3 gene ITGA3 Expert Review;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 22512483;25810266;23114595;27717396;32198874;26854491;34492382;34751145 False 1 100;0;0 1.1566 True ENSG00000005884 ENSG00000005884 HGNC:6139 KCNE1 gene KCNE1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, MIM# 612347 False 1 0;33;67 1.1566 True ENSG00000180509 ENSG00000180509 HGNC:6240 KRT8 gene KRT8 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cirrhosis, cryptogenic, MIM#215600 12724528;11372009;15235035 False 1 0;0;100 1.1566 True ENSG00000170421 ENSG00000170421 HGNC:6446 KRT85 gene KRT85 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 4, hair/nail type, 602032 (3) False 1 0;67;33 1.1566 True ENSG00000135443 ENSG00000135443 HGNC:6462 LDHB gene LDHB Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lactate dehydrogenase-B deficiency, MIM# 614128 6383647 False 1 0;0;100 1.1566 True ENSG00000111716 ENSG00000111716 HGNC:6541 LOXHD1 gene LOXHD1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 77 (MIM#613079)" 31547530 False 1 0;50;50 1.1566 True ENSG00000167210 ENSG00000167210 HGNC:26521 MCCC1 gene MCCC1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200) 31730530 False 1 0;0;100 1.1566 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210) False 1 0;0;100 1.1566 True ENSG00000131844 ENSG00000131844 HGNC:6937 MCM4 gene MCM4 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54, MIM# 609981 22354167;22354170;22499342 False 1 0;0;100 1.1566 True ENSG00000104738 ENSG00000104738 HGNC:6947 MEFV gene MEFV Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Familial Mediterranean fever, AR (MIM#249100) False 1 0;50;50 1.1566 True ENSG00000103313 ENSG00000103313 HGNC:6998 MFRP gene MFRP Expert Review;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 5, MIM# 611040 17167404;18554571;20361016 False 1 100;0;0 1.1566 True ENSG00000235718 ENSG00000235718 HGNC:18121 NDUFA11 gene NDUFA11 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 18306244;31074871 False 1 0;0;100 1.1566 True ENSG00000174886 ENSG00000174886 HGNC:20371 NLGN4X gene NLGN4X Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked (MIM#300495) 12669065;18231125;10071191;29428674 False 1 0;0;100 1.1566 True ENSG00000146938 ENSG00000146938 HGNC:14287 NR2E3 gene NR2E3 Expert Review Red;Literature Prepair 1000+ Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Enhanced S-cone syndrome (MIM#268100);Retinitis pigmentosa 37 (MIM#611131) 32679203;33138239;19139342;26910043 False 1 0;50;50 1.1566 True ENSG00000031544 ENSG00000278570 HGNC:7974 NUP62 gene NUP62 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile - MIM#271930 16786527 False 1 0;0;100 1.1566 True ENSG00000213024 ENSG00000213024 HGNC:8066 OAT gene OAT Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Gyrate atrophy of choroid and retina with or without ornithinemia (MIM#258870)" 33463379;34340878 False 1 0;50;50 1.1566 True ENSG00000065154 ENSG00000065154 HGNC:8091 OCA2 gene OCA2 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type II (MIM#203200) False 1 0;50;50 1.1566 True ENSG00000104044 ENSG00000104044 HGNC:8101 OPN1LW gene OPN1LW Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Blue cone monochromacy, MIM#303700;Colorblindness, protan, MIM#303900 False 1 0;0;0 1.1566 False ENSG00000102076 ENSG00000102076 HGNC:9936 PDE6B gene PDE6B Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa-40, MIM #613801 False 1 0;0;0 1.1566 False ENSG00000133256 ENSG00000133256 HGNC:8786 PKD1L1 gene PKD1L1 Expert list Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Heterotaxy, visceral, 8, autosomal MIM#617205" PMID: 33655537;PMID: 27616478 False 1 0;100;0 1.1566 False ENSG00000158683 ENSG00000158683 HGNC:18053 PTPN23 gene PTPN23 Expert list Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890 25558065;31395947;27848944;29899372;29090338 False 1 0;0;0 1.1566 False ENSG00000076201 ENSG00000076201 HGNC:14406 PUS7 gene PUS7 Expert list Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal OMIM #618342;Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 30526862;31583274;30778726 False 1 0;0;0 1.1566 False ENSG00000091127 ENSG00000091127 HGNC:26033 PYGM gene PYGM Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) False 1 0;50;50 1.1566 True ENSG00000068976 ENSG00000068976 HGNC:9726 RS1 gene RS1 Expert Review Red;Literature Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinoschisis (MIM#312700) 15932525;23453514;23847049 False 1 0;50;50 1.1566 True ENSG00000102104 ENSG00000102104 HGNC:10457 SAMD9 gene SAMD9 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, familial, normophosphatemic, 610455 (3) 16960814;18094730 False 1 0;0;100 1.1566 True ENSG00000205413 ENSG00000205413 HGNC:1348 SEC23A gene SEC23A Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia (MIM# 607812) 16980979;21039434;16980978;27148587 False 1 0;0;100 1.1566 True ENSG00000100934 ENSG00000100934 HGNC:10701 SEMA4A gene SEMA4A Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 10, 610283;Retinitis pigmentosa 35, 610282 16199541;28805479 False 1 0;0;100 1.1566 True ENSG00000196189 ENSG00000196189 HGNC:10729 SERPINA1 gene SERPINA1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Emphysema-cirrhosis, due to AAT deficiency, 613490 (3) False 1 0;0;100 1.1566 True ENSG00000197249 ENSG00000197249 HGNC:8941 SGO1 gene SGO1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chronic atrial and intestinal dysrhythmia, 616201 (3) 25282101 False 1 0;0;100 1.1566 True ENSG00000129810 ENSG00000129810 HGNC:25088 SLC12A3 gene SLC12A3 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Gitelman syndrome (MIM#263800)" 8528245;11102542 False 1 0;50;50 1.1566 True ENSG00000070915 ENSG00000070915 HGNC:10912 SLC26A4 gene SLC26A4 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791);Pendred syndrome (MIM#274600) 24599119 False 1 0;50;50 1.1566 True ENSG00000091137 ENSG00000091137 HGNC:8818 SLC4A11 gene SLC4A11 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268;Corneal endothelial dystrophy and perceptive deafness, MIM# 217400;Corneal endothelial dystrophy, autosomal recessive, MIM# 217700 26451371;20118786;21203343 False 1 0;33;67 1.1566 True ENSG00000088836 ENSG00000088836 HGNC:16438 SNORD118 gene SNORD118 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, brain calcifications, and cysts, 614561 (3), Autosomal recessive 32361877;33029936 False 1 0;50;50 1.1566 True ENSG00000200463 ENSG00000200463 HGNC:32952 TBC1D20 gene TBC1D20 Expert list Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome;Warburg micro syndrome 4, MIM# 615663 32162791;24239381;32740904 False 1 0;0;0 1.1566 False ENSG00000125875 ENSG00000125875 HGNC:16133 TBX22 gene TBX22 Expert Review;Expert Review Red Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cleft palate with ankyloglossia, MIM #303400 36901693;22784330;21375406 False 1 0;50;50 1.1566 True ENSG00000122145 ENSG00000122145 HGNC:11600 TFR2 gene TFR2 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 3, MIM#604250 29743178 False 1 0;50;50 1.1566 True ENSG00000106327 ENSG00000106327 HGNC:11762 TNFRSF13B gene TNFRSF13B Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 2, 240500 (3) 31681265 False 1 0;0;100 1.1566 True ENSG00000240505 ENSG00000240505 HGNC:18153 TP53RK gene TP53RK Expert Review;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4, MIM# 617730 30053862;28805828 False 1 100;0;0 1.1566 True ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, MIM# 617731 30053862;28805828 False 1 100;0;0 1.1566 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRAC gene TRAC Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3) False 1 0;0;100 1.1566 True ENSG00000229164 ENSG00000277734 HGNC:12029 TRAPPC12 gene TRAPPC12 Expert Review Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM# 617669 32369837;28777934 False 1 0;0;0 1.1566 False ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC6B gene TRAPPC6B Expert Review Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, MIM# 617862 28397838;28626029;31687267 False 1 100;0;0 1.1566 False ENSG00000182400 ENSG00000182400 HGNC:23066 TSPAN7 gene TSPAN7 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266 10449641;12070254;10655063;25081361 False 1 0;0;100 1.1566 True ENSG00000156298 ENSG00000156298 HGNC:11854 TSPYL1 gene TSPYL1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome, 608800 (3) 15273283;19463995;22137496;25449952;16418600;32885560;33075815 False 1 0;100;0 1.1566 True ENSG00000189241 ENSG00000189241 HGNC:12382 TUBA8 gene TUBA8 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia MONDO:0013172 34704371 False 1 0;0;100 1.1566 True ENSG00000183785 ENSG00000183785 HGNC:12410 UPB1 gene UPB1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency, MIM# 613161;MONDO:0013164 35926322;27604308;24526388;25638458;22525402;15385443;17964839 False 1 0;0;100 1.1566 True ENSG00000100024 ENSG00000100024 HGNC:16297 UQCRC2 gene UQCRC2 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5, 615160 (3) False 1 0;100;0 1.1566 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRQ gene UQCRQ Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 (3) 18439546 False 1 0;0;100 1.1566 True ENSG00000164405 ENSG00000164405 HGNC:29594 VPS13A gene VPS13A Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, 200150 (3) 29518281;28446873 False 1 0;50;50 1.1566 True ENSG00000197969 ENSG00000197969 HGNC:1908 VPS37A gene VPS37A Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 53, autosomal recessive, 614898 (3) 22717650;29473047 False 1 0;0;100 1.1566 True ENSG00000155975 ENSG00000155975 HGNC:24928 WNT10A gene WNT10A Expert Review Red;Literature Prepair 1000+ Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Odontoonychodermal dysplasia 257980 AR;Schopf-Schulz-Passarge syndrome 224750 AR;Tooth agenesis, selective, 4 150400 AR, AD 19559398;30426266 False 1 0;0;100 1.1566 True ENSG00000135925 ENSG00000135925 HGNC:13829 YIF1B gene YIF1B Expert Review;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Kaya-Barakat-Masson syndrome, MIM# 619125 32006098;26077767 False 1 100;0;0 1.1566 True ENSG00000167645 ENSG00000167645 HGNC:30511 ZNF469 gene ZNF469 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 1, MIM #229200 False 1 0;0;0 1.1566 False ENSG00000225614 ENSG00000225614 HGNC:23216