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 2.17 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 2.17 True 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 2.17 True ENSG00000176715 ENSG00000176715 HGNC:27288 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 2.17 True ENSG00000119523 ENSG00000119523 HGNC:23159 AMN gene AMN Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Imerslund-Grasbeck syndrome 2 (MIM#618882) 12590260;15024727;17285242;24156255;26040326;27604308 False 1 0;100;0 2.17 True ENSG00000166126 ENSG00000166126 HGNC:14604 BRIP1 gene BRIP1 Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi Anaemia, complementation group J, MIM# 609054 16116423 False 1 50;0;50 2.17 True Other ENSG00000136492 ENSG00000136492 HGNC:20473 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 2.17 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 2.17 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 2.17 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 2.17 True ENSG00000187796 ENSG00000187796 HGNC:16391 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 2.17 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 2.17 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 2.17 True ENSG00000136425 ENSG00000136425 HGNC:24579 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 2.17 True ENSG00000139219 ENSG00000139219 HGNC:2200 CTSF gene CTSF Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3) False 1 0;0;100 2.17 True ENSG00000174080 ENSG00000174080 HGNC:2531 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 True ENSG00000170264 ENSG00000170264 HGNC:25808 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 True ENSG00000198814 ENSG00000198814 HGNC:4289 GNE gene GNE Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy MIM#605820;Thrombocytopenia 12 with or without myopathy MIM#620757 25257349;17549255;25061177;30171045;29941673 False 1 0;100;0 2.17 True ENSG00000159921 ENSG00000159921 HGNC:23657 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 2.17 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 2.17 True ENSG00000169704 ENSG00000169704 HGNC:4444 GPR143 gene GPR143 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Nystagmus 6, congenital, X-linked, MIM#300814;Ocular albinism, type I, Nettleship-Falls type, MIM#300500 30555098;29761529 False 1 0;100;0 2.17 True ENSG00000101850 ENSG00000101850 HGNC:20145 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 2.17 True ENSG00000137106 ENSG00000137106 HGNC:4570 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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) 20797690;21896830;22391140;36688940 False 1 0;33;67 2.17 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 2.17 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 2.17 True ENSG00000163453 ENSG00000163453 HGNC:5476 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 2.17 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 2.17 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 2.17 True ENSG00000135443 ENSG00000135443 HGNC:6462 LCAT gene LCAT Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Norum disease, MIM#245900;Fish-eye disease, MIM# 136120 30720493;6624548;34256778 False 1 0;100;0 2.17 True ENSG00000213398 ENSG00000213398 HGNC:6522 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 2.17 True ENSG00000111716 ENSG00000111716 HGNC:6541 LIPC gene LIPC Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hepatic lipase deficiency, MIM# 614025 False 1 0;0;100 2.17 True ENSG00000166035 ENSG00000166035 HGNC:6619 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 2.17 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 2.17 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 2.17 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;33;67 2.17 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 2.17 True ENSG00000103313 ENSG00000103313 HGNC:6998 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 25168334;32860923;8213841 False 1 0;0;100 2.17 True 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 8394174;8075643;17044014;7599633;18854872;33673512 False 1 0;0;100 2.17 True ENSG00000133256 ENSG00000133256 HGNC:8786 PKD1L1 gene PKD1L1 Expert list;Expert Review Red Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Heterotaxy, visceral, 8, autosomal MIM#617205" PMID: 33655537;PMID: 27616478 False 1 0;50;50 2.17 True ENSG00000158683 ENSG00000158683 HGNC:18053 POLR1D gene POLR1D Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Treacher Collins syndrome 2 MIM#613717 21131976;24603435;27448281;25790162 False 1 0;50;50 2.17 True ENSG00000186184 ENSG00000186184 HGNC:20422 PRICKLE1 gene PRICKLE1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, MIM# 612437 False 1 0;0;100 2.17 True ENSG00000139174 ENSG00000139174 HGNC:17019 PYGM gene PYGM Expert Review Red;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) False 1 0;50;50 2.17 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 2.17 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;50;50 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 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 2.17 True ENSG00000200463 ENSG00000200463 HGNC:32952 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 2.17 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 2.17 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 2.17 True ENSG00000240505 ENSG00000240505 HGNC:18153 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 2.17 True ENSG00000229164 ENSG00000277734 HGNC:12029 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;33;67 2.17 True ENSG00000156298 ENSG00000156298 HGNC:11854 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 2.17 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 2.17 True ENSG00000100024 ENSG00000100024 HGNC:16297 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 2.17 True ENSG00000164405 ENSG00000164405 HGNC:29594 VKORC1 gene VKORC1 Expert Review Red;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM#607473 12704386;14765194;24963046;18315553 False 1 0;100;0 2.17 True ENSG00000167397 ENSG00000167397 HGNC:23663 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 2.17 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 2.17 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 2.17 True ENSG00000135925 ENSG00000135925 HGNC:13829