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 AAAS gene AAAS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, 231550 (3) 29255950 False 3 100;0;0 1.1566 True ENSG00000094914 ENSG00000094914 HGNC:13666 AARS2 gene AARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096 (3) False 3 100;0;0 1.1566 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, 613163 (3) 25738457 False 3 100;0;0 1.1566 True ENSG00000183044 ENSG00000183044 HGNC:23 ABCA12 gene ABCA12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) False 3 100;0;0 1.1566 True ENSG00000144452 ENSG00000144452 HGNC:14637 ABCA3 gene ABCA3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) 15044640 False 3 100;0;0 1.1566 True ENSG00000167972 ENSG00000167972 HGNC:33 ABCB11 gene ABCB11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2, 601847 (3) False 3 0;0;0 1.1566 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3 MIM#602347 17726488 False 3 100;0;0 1.1566 True ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, MIM# 301310 10196363;33157103;31772327;31511561;26242992;34354969;22398176 False 3 100;0;0 1.1566 True ENSG00000131269 ENSG00000131269 HGNC:48 ABCC8 gene ABCC8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857;Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450 17919176;1950816;21716120;38791571;36034573 False 3 100;0;0 1.1566 True ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, 300100 (3) 35983253 False 3 100;0;0 1.1566 True ENSG00000101986 ENSG00000101986 HGNC:61 ABHD5 gene ABHD5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome, MIM#275630 18339307, 30795549 False 3 100;0;0 1.1566 True ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD9 gene ACAD9 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3) 30025539;26475292 False 3 100;0;0 1.1566 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review;Expert Review Green Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 9158144 False 3 100;0;0 1.1566 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, 201475 (3) 31372341, 32885845 False 3 100;0;0 1.1566 True ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM#203750 17236799;1715688 False 3 100;0;0 1.1566 True ENSG00000075239 ENSG00000075239 HGNC:93 ACE gene ACE Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430 (3) 16116425;22095942 False 3 100;0;0 1.1566 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACO2 gene ACO2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 (3) 34056600, 32519519 False 3 100;0;0 1.1566 True ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) 32169171;17458872 False 3 100;0;0 1.1566 True ENSG00000161533 ENSG00000161533 HGNC:119 ACTA1 gene ACTA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) 19562689 False 3 100;0;0 1.1566 True ENSG00000143632 ENSG00000143632 HGNC:129 ADA gene ADA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency MIM#102700;Adenosine deaminase deficiency, partial MIM#102700 20301656;8673127 False 3 100;0;0 1.1566 True ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 24552284;24552285;33791889 False 3 100;0;0 1.1566 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTS13 gene ADAMTS13 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, MIM#274150 16796708;34702267 False 3 100;0;0 1.1566 True ENSG00000160323 ENSG00000160323 HGNC:1366 ADAMTS2 gene ADAMTS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) 30071989;26765342;28306229 False 3 100;0;0 1.1566 True ENSG00000087116 ENSG00000087116 HGNC:218 ADAMTSL2 gene ADAMTSL2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1, 231050 (3) 20301776;38300707 False 3 100;0;0 1.1566 True ENSG00000197859 ENSG00000197859 HGNC:14631 ADAR gene ADAR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, 615010 (3) False 3 100;0;0 1.1566 True ENSG00000160710 ENSG00000160710 HGNC:225 ADAT3 gene ADAT3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#615286 23620220;26842963;29796286;30296593;35118659 False 3 100;0;0 1.1566 True ENSG00000213638 ENSG00000213638 HGNC:25151 ADGRG1 gene ADGRG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM#606854 16240336;33299078 False 3 100;0;0 1.1566 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRV1 gene ADGRV1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, MIM# 605472 19357117 False 3 100;0;0 1.1566 True ENSG00000164199 ENSG00000164199 HGNC:17416 ADSL gene ADSL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency, 103050 (3) PMID: 25112391;1302001;22180458;18524658 False 3 100;0;0 1.1566 True ENSG00000239900 ENSG00000239900 HGNC:291 AGA gene AGA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, 208400 (3) 1703489;1904874;8064811;8946839 False 3 100;0;0 1.1566 True ENSG00000038002 ENSG00000038002 HGNC:318 AGBL5 gene AGBL5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 75, 617023 26720455;26355662;30925032;38078364;27842159 False 3 100;0;0 1.1566 True ENSG00000084693 ENSG00000084693 HGNC:26147 AGK gene AGK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, 212350 (3) False 3 0;0;0 1.1566 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa, 232400 (3) PMID: 26885414;20301788;35834487;27106217 False 3 100;0;0 1.1566 True ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121 9553082;8611652;21990100 False 3 100;0;0 1.1566 True ENSG00000018510 ENSG00000018510 HGNC:327 AGRN gene AGRN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3) 19631309;22205389;32221959 False 3 100;0;0 1.1566 True ENSG00000188157 ENSG00000188157 HGNC:329 AGT gene AGT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430 (3) 16116425;34234805;33163725 False 3 100;0;0 1.1566 True ENSG00000135744 ENSG00000135744 HGNC:333 AGXT gene AGXT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, 259900 (3) 2039493;19479957;33789010 False 3 100;0;0 1.1566 True ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3 MIM#608629 16155189;20301500 False 3 100;0;0 1.1566 True ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, MIM#300816 20362274, 22019070, 26173962, 31523922, 31783324, 28299359, 25934856, 28842795, 28842795 False 3 100;0;0 1.1566 True ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, 260600 (3) 21092922;24958424;33402283;32531460;30486714;30477741 False 3 100;0;0 1.1566 True ENSG00000164022 ENSG00000164022 HGNC:10648 AIPL1 gene AIPL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 4, 604393;Cone-rod dystrophy, 604393;Retinitis pigmentosa, juvenile, 604393 33067476 False 3 100;0;0 1.1566 True ENSG00000129221 ENSG00000129221 HGNC:359 AK2 gene AK2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis MIM# 267500 19043416;19043417 False 3 100;0;0 1.1566 True ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2, 235555 (3) 12970144;20522910;30373615 False 3 100;0;0 1.1566 True ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic, 612740 (3) 16343966;30724374;2063868;1569184;15303011 False 3 100;0;0 1.1566 True ENSG00000148218 ENSG00000148218 HGNC:395 ALDH18A1 gene ALDH18A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA (MIM#219150);Spastic paraplegia 9B, autosomal recessive (MIM#616586) 24913064;18478038;26026163 False 3 100;0;0 1.1566 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1A3 gene ALDH1A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 8, 615113 (3) 23312594;30200890 False 3 100;0;0 1.1566 True ENSG00000184254 ENSG00000184254 HGNC:409 ALDH3A2 gene ALDH3A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome (MIM#270200) False 3 100;0;0 1.1566 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH5A1 gene ALDH5A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 9683595;14635103;32402538;32887777 False 3 100;0;0 1.1566 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, 4, vitamin B6-dependent MIM #266100 16491085;17068770;32969477;33200442;17721876;19142996;22784480;29053735 False 3 100;0;0 1.1566 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDOB gene ALDOB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 3083321 False 3 100;0;0 1.1566 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik, MIM# 608540 26931382;24157261;14973782 False 3 100;0;0 1.1566 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ip, 613661 (3) 36843332;30676690 False 3 100;0;0 1.1566 True ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig MIM# 607143 31481313 False 3 100;0;0 1.1566 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG3 gene ALG3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, 601110 (3) 31067009;10581255;15840742 False 3 100;0;0 1.1566 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) 27498540 False 3 100;0;0 1.1566 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, 608104 (3) 35716054;36574950 False 3 100;0;0 1.1566 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, 608776 (3) 28932688;25966638;26453364;30676690;36326140 False 3 100;0;0 1.1566 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 False 3 100;0;0 1.1566 True ENSG00000116127 ENSG00000116127 HGNC:428 ALOX12B gene ALOX12B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 16116617;11773004 False 3 100;0;0 1.1566 True ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3 (MIM#606545) False 3 100;0;0 1.1566 True ENSG00000179148 ENSG00000179148 HGNC:13743 ALPL gene ALPL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, childhood (MIM#241510);Hypophosphatasia, infantile (MIM#241500) 19500388;23688511;32029969;24569605 False 3 100;0;0 1.1566 True ENSG00000162551 ENSG00000162551 HGNC:438 ALS2 gene ALS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal ALS2-related motor neuron disease (MONDO:0100227) 24315819;12601111;30128655;33409823 False 3 100;0;0 1.1566 True ENSG00000003393 ENSG00000003393 HGNC:443 AMPD2 gene AMPD2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, 615809 (3) 23911318;29463858 False 3 100;0;0 1.1566 True ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 (3) 27362913, 16450403, 30350008, 26179960, 20301531, 25231368, 35646099 False 3 100;0;0 1.1566 True ENSG00000145020 ENSG00000145020 HGNC:473 ANKS6 gene ANKS6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16 MIM#615382 31678577;23793029;31635528;24610927;37525964 False 3 100;0;0 1.1566 True ENSG00000165138 ENSG00000165138 HGNC:26724 ANTXR1 gene ANTXR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal GAPO syndrome (MIM#230740) False 3 100;0;0 1.1566 True ENSG00000169604 ENSG00000169604 HGNC:21014 ANTXR2 gene ANTXR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome, MIM# 228600;MONDO:0009229 12973667;14508707 False 3 100;0;0 1.1566 True ENSG00000163297 ENSG00000163297 HGNC:21732 AP1S2 gene AP1S2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 0714330;23756445;17186471 False 3 100;0;0 1.1566 True ENSG00000182287 ENSG00000182287 HGNC:560 AP3B2 gene AP3B2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 48 MIM#617276 36356440;27889060 False 3 100;0;0 1.1566 True ENSG00000103723 ENSG00000103723 HGNC:567 AP4B1 gene AP4B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, 614066 (3) 21620353;22290197;24700674;24781758 False 3 100;0;0 1.1566 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4M1 gene AP4M1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive, 612936 (3) False 3 100;0;0 1.1566 True ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 52, autosomal recessive, 614067 (3) False 3 100;0;0 1.1566 True ENSG00000100478 ENSG00000100478 HGNC:575 APOPT1 gene APOPT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, MIM#220110 25175347;32637636 False 3 100;0;0 1.1566 True ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 30986824;26256098;11586299 False 3 100;0;0 1.1566 True ENSG00000137074 ENSG00000137074 HGNC:15984 AQP2 gene AQP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic, type 2 MIM# 125800 7537761;11536078 False 3 100;0;0 1.1566 True ENSG00000167580 ENSG00000167580 HGNC:634 ARFGEF2 gene ARFGEF2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly, MIM#608097 25160555;26126837;23812912;23755938 False 3 100;0;0 1.1566 True ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Argininemia MIM# 207800 26467175;2365823;1598908;29726057 False 3 100;0;0 1.1566 True ENSG00000118520 ENSG00000118520 HGNC:663 ARHGEF9 gene ARHGEF9 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Developmental and epileptic encephalopathy 8, MIM# 300607 31942680;30048823;29130122;28620718 False 3 100;0;0 1.1566 True ENSG00000131089 ENSG00000131089 HGNC:14561 ARL13B gene ARL13B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, 612291 (3) 38219074;18674751;25138100;26092869;27894351;29255182 False 3 100;0;0 1.1566 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 15258860;32361989;31888296;25402481;31736247;19858128 False 3 100;0;0 1.1566 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC4 gene ARMC4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 (3) 31765523;23849778 False 3 100;0;0 1.1566 True ENSG00000169126 ENSG00000169126 HGNC:25583 ARPC1B gene ARPC1B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia MIM#617718 36708766;33679784 False 3 100;0;0 1.1566 True ENSG00000130429 ENSG00000130429 HGNC:704 ARSA gene ARSA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, 250100 (3) 25987178;23348427;33195324 False 3 100;0;0 1.1566 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3) 11668612;31142378 False 3 100;0;0 1.1566 True ENSG00000113273 ENSG00000113273 HGNC:714 ARV1 gene ARV1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive False 3 100;0;0 1.1566 True ENSG00000173409 ENSG00000173409 HGNC:29561 ARX gene ARX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Developmental and epileptic encephalopathy 1, MIM#30835;Hydranencephaly with abnormal genitalia, MIM#300215;Intellectual developmental disorder, X-linked 29, MIM#300419;Lissencephaly, X-linked 2, MIM#300215;Partington syndrome, MIM#309510;Proud syndrome, MIM#300004 14722918;12379852;19738637;32519823;28150386 False 3 100;0;0 1.1566 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy, MIM#159950;Farber lipogranulomatosis, MIM#228000 False 3 100;0;0 1.1566 True ENSG00000104763 ENSG00000104763 HGNC:735 ASCC1 gene ASCC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with congenital bone fractures 2, MIM#616867;spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807 30327447;12077347;26924529;31880396;26503956 False 3 100;0;0 1.1566 True ENSG00000138303 ENSG00000138303 HGNC:24268 ASL gene ASL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, 207900 (3) 2263616;12384776 False 3 100;0;0 1.1566 True ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency, MIM#615574 24139043;27469131;29375865;28776279 False 3 100;0;0 1.1566 True ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Canavan disease, 271900 (3) 22750302;20301412 False 3 100;0;0 1.1566 True ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive (MIM#608716) 18452193;19332161;19770472;27250695;29243349 False 3 100;0;0 1.1566 True ENSG00000066279 ENSG00000066279 HGNC:19048 ASS1 gene ASS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Citrullinaemia MIM# 215700 25135652;15334737 False 3 100;0;0 1.1566 True ENSG00000130707 ENSG00000130707 HGNC:758 ATAD1 gene ATAD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 4, MIM#618011 28180185;29390050;29659736 False 3 100;0;0 1.1566 True ENSG00000138138 ENSG00000138138 HGNC:25903 ATCAY gene ATCAY Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type, 601238 (3) 14556008;29449188;23226316;26343454;37752557 False 3 100;0;0 1.1566 True ENSG00000167654 ENSG00000167654 HGNC:779 ATF6 gene ATF6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Achromatopsia 7, MIM# 616517 26063662;26029869 False 3 100;0;0 1.1566 True ENSG00000118217 ENSG00000118217 HGNC:791 ATM gene ATM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, 208900 (3) 30137827, 20301790 False 3 100;0;0 1.1566 True ENSG00000149311 ENSG00000149311 HGNC:795 ATOH7 gene ATOH7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3) 22068589;22645276;31696227;11493566;11493566 False 3 100;0;0 1.1566 True ENSG00000179774 ENSG00000179774 HGNC:13907 ATP13A2 gene ATP13A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome (MIM#606693) 28137957;30746398 False 3 67;0;33 1.1566 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP6AP1 gene ATP6AP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, MIM#300972 27231034;32048120 False 3 100;0;0 1.1566 True ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, 219200 (3) 19401719;22773132 False 3 100;0;0 1.1566 True ENSG00000185344 ENSG00000185344 HGNC:18481 ATP6V0A4 gene ATP6V0A4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722 22872862;12414817;29311258 False 3 100;0;0 1.1566 True ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 False 3 100;0;0 1.1566 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP7A gene ATP7A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease(MIM#309400);Occipital horn syndrome(MIM#304150) 20170900;33137485;31969342;31558336;7842019;8981948 False 3 100;0;0 1.1566 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Wilson disease, 277900 (3) 28433102 False 3 100;0;0 1.1566 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP8A2 gene ATP8A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (MIM#615268) 22892528;31612321 False 3 100;0;0 1.1566 True ENSG00000132932 ENSG00000132932 HGNC:13533 ATP8B1 gene ATP8B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1, 211600 (3) False 3 100;0;0 1.1566 True ENSG00000081923 ENSG00000081923 HGNC:3706 ATR gene ATR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1(MIM#210600) 12640452;19620979;30199583;23111928;23111928 False 3 100;0;0 1.1566 True ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females ATR-X-related syndrome MONDO:0016980 16813605;16955409;15350606;23681356 False 3 100;0;0 1.1566 True ENSG00000085224 ENSG00000085224 HGNC:886 AUH gene AUH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950;MONDO:0009610 12434311;16354225;20855850;21840233 False 3 100;0;0 1.1566 True ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3) 35338537;38585583;23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 1.1566 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Al-Gazali syndrome, MIM# 609465;Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 False 3 100;0;0 1.1566 True ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3) 31988067 False 3 100;0;0 1.1566 True ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, MIM# 261540 23161355;18798333;19796186;32533185;32204707;31795264;20301637;16909395 False 3 100;0;0 1.1566 True ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, MIM# 609195 23746551;24103911 False 3 100;0;0 1.1566 True ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT7 gene B4GALT7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070;MONDO:0020682 23956117;24755949;31614862;34193099;26940150 False 3 100;0;0 1.1566 True ENSG00000027847 ENSG00000027847 HGNC:930 BBS1 gene BBS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 20177705;15637713 False 3 100;0;0 1.1566 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, 615987 (3) 36340607 False 3 100;0;0 1.1566 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, 615989 (3) False 3 100;0;0 1.1566 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 False 3 100;0;0 1.1566 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982 False 3 100;0;0 1.1566 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983 19252258;15137946;10053027;15637713 False 3 100;0;0 1.1566 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 12567324;21937992;19797195 False 3 100;0;0 1.1566 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9 MIM#615986 33771153;31283077 False 3 100;0;0 1.1566 True ENSG00000122507 ENSG00000122507 HGNC:30000 BCKDHA gene BCKDHA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia, MIM# 248600 7883996;7672509;34288399 False 3 100;0;0 1.1566 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib 620698 20301495;34883003;34556729;34288399 False 3 100;0;0 1.1566 True ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3) 22956686;24449431 False 3 100;0;0 1.1566 True ENSG00000103507 ENSG00000103507 HGNC:16902 BCS1L gene BCS1L Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal GRACILE syndrome, MIM#603358;Mitochondrial complex III deficiency, nuclear type 1, MIM#124000 26563427;17314340 False 3 100;0;0 1.1566 True ENSG00000074582 ENSG00000074582 HGNC:1020 BGN gene BGN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Meester-Loeys syndrome (MIM#300989);Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106) 27632686;17502576;27236923 False 3 67;33;0 1.1566 True ENSG00000182492 ENSG00000182492 HGNC:1044 BIN1 gene BIN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, MIM# 255200 17676042;20142620 False 3 100;0;0 1.1566 True ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome MIM# 210900 17407155;9285778;7585968;8079989;12242442;11101838 False 3 100;0;0 1.1566 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMPER gene BMPER Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diaphanospondylodysostosis, 608022 (3) 20869035;30006055;15988748;17764081 False 3 100;0;0 1.1566 True ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1B gene BMPR1B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia 3, MIM# 609441 15805157;24129431;26105076 False 3 100;0;0 1.1566 True ENSG00000138696 ENSG00000138696 HGNC:1077 BOLA3 gene BOLA3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299 30302924;29654549;30302924 False 3 100;0;0 1.1566 True ENSG00000163170 ENSG00000163170 HGNC:24415 BRAT1 gene BRAT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498;Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 26483087;26494257;27282546;23035047;25319849;25500575 False 3 100;0;0 1.1566 True ENSG00000106009 ENSG00000106009 HGNC:21701 BRF1 gene BRF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome, MIM# 616202;Cerebellar-facial-dental syndrome MONDO:0014529 25561519;25561519;27748960;33645901;32896090;34628026 False 3 100;0;0 1.1566 True ENSG00000185024 ENSG00000185024 HGNC:11551 BRWD3 gene BRWD3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 93, 300659 (3) False 3 0;0;0 1.1566 False ENSG00000165288 ENSG00000165288 HGNC:17342 BSCL2 gene BSCL2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with or without lipodystrophy (MIM#615924);Lipodystrophy, congenital generalized, type 2 (MIM#269700) 23564749;23659685;26815532 False 3 100;0;0 1.1566 True ENSG00000168000 ENSG00000168000 HGNC:15832 BSND gene BSND Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, 602522 (3) 11687798;19646679;16572343 False 3 100;0;0 1.1566 True ENSG00000162399 ENSG00000162399 HGNC:16512 BTK gene BTK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinemia, X-linked 1 MIM#300755;Bruton-type agammaglobulinemia MONDO:0010421;Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615 8013627;7849697;31481959;15024743;34182127;16951917 False 3 100;0;0 1.1566 True ENSG00000010671 ENSG00000010671 HGNC:1133 BUB1B gene BUB1B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, MIM# 257300 18548531 False 3 100;0;0 1.1566 True ENSG00000156970 ENSG00000156970 HGNC:1149 C12orf57 gene C12orf57 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Temtamy syndrome, MIM # 218340 23453666;29383837;31853307 False 3 100;0;0 1.1566 True ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, MIM# 613559;Spastic paraplegia 55, autosomal recessive, MIM#615035 23188110;24080142;24198383;20598281;32808965;32478789;28804760 False 3 100;0;0 1.1566 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 4, 614298 (3) 21981780;31087512;23269600;33688131;22508347;31804703;30088953;20039086;24586779;35182730 False 3 100;0;0 1.1566 True ENSG00000131943 ENSG00000131943 HGNC:25443 C1QA gene C1QA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C1q deficiency, 613652 (3) 21654842;9225968;9590289 False 3 100;0;0 1.1566 True ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 False 3 100;0;0 1.1566 True ENSG00000173369 ENSG00000173369 HGNC:1242 C1QC gene C1QC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 21654842;8630118;31357913 False 3 100;0;0 1.1566 True ENSG00000159189 ENSG00000159189 HGNC:1245 C21orf2 gene C21orf2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with macular staphyloma MIM#617547;Spondylometaphyseal dysplasia, axial MIM#602271 39232248;26974433;27548899;28422394 False 3 100;0;0 1.1566 True ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948;MONDO:0014413 24997988;26477546;27094867;30097616;33875766 False 3 100;0;0 1.1566 True ENSG00000168014 ENSG00000168014 HGNC:24564 C3 gene C3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C3 deficiency, MIM#613779 15781264;1944729;11813855;26847111 False 3 100;0;0 1.1566 True ENSG00000125730 ENSG00000125730 HGNC:1318 C5 gene C5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal C5 deficiency, 609536 (3) 23743184;23371790 False 3 100;0;0 1.1566 True ENSG00000106804 ENSG00000106804 HGNC:1331 C5orf42 gene C5orf42 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615;Orofaciodigital syndrome VI, MIM# 277170 22425360;24178751 False 3 100;0;0 1.1566 True ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 16, Retinitis pigmentosa 64 MIM#614500 22177090;25113443;26865426;25802487 False 3 100;0;0 1.1566 True ENSG00000156172 ENSG00000156172 HGNC:27232 CA2 gene CA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 34624559;33555497;12566520;7627193 False 3 100;0;0 1.1566 True ENSG00000104267 ENSG00000104267 HGNC:1373 CABP4 gene CABP4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3) 16960802;19074807;20157620 False 3 100;0;0 1.1566 True ENSG00000175544 ENSG00000175544 HGNC:1386 CANT1 gene CANT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, MIM# 251450;Epiphyseal dysplasia, multiple, 7, MIM# 617719 19853239;21037275;28742282 False 3 100;0;0 1.1566 True ENSG00000171302 ENSG00000171302 HGNC:19721 CAPN3 gene CAPN3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2A, 253600 (3) 31937337;28881388;32342993 False 3 100;0;0 1.1566 True ENSG00000092529 ENSG00000092529 HGNC:1480 CARD11 gene CARD11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 11, 615206 (3) PMID: 36729250;23561803;23374270;28826773 False 3 100;0;0 1.1566 True ENSG00000198286 ENSG00000198286 HGNC:16393 CARS2 gene CARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive 30139652;34704010 False 3 100;0;0 1.1566 True ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, with or without nystagmus False 3 0;0;0 1.1566 False ENSG00000147044 ENSG00000147044 HGNC:1497 CASQ2 gene CASQ2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3) 34012068 False 3 50;50;0 1.1566 True ENSG00000118729 ENSG00000118729 HGNC:1513 CASR gene CASR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperparathyroidism, neonatal MIM#239200 22620673;26646938 False 3 100;0;0 1.1566 True ENSG00000036828 ENSG00000036828 HGNC:1514 CAVIN1 gene CAVIN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, MIM# 613327;MONDO:0013225 19726876;20300641;20684003;18840361 False 3 100;0;0 1.1566 True ENSG00000177469 ENSG00000177469 HGNC:9688 CC2D1A gene CC2D1A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 3, MIM# 608443 25066123 False 3 100;0;0 1.1566 True ENSG00000132024 ENSG00000132024 HGNC:30237 CC2D2A gene CC2D2A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal COACH syndrome, MIM#216360;Joubert syndrome 9, MIM#612285;Meckel syndrome 6, MIM#612284;Retinitis pigmentosa 93, MIM# 619845 18387594;18950740;18513680;18950740;19574260;21725307;33486889;22241855;27081510;30267408 False 3 100;0;0 1.1566 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) 19935664;19911200;19287381;25925991;27345729;21778431 False 3 100;0;0 1.1566 True ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC103 gene CCDC103 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679 (3) 22581229, 32447765, 31858719, 28790179 False 3 100;0;0 1.1566 True ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 (3) 23261303;23261302;32855706;23506398 False 3 100;0;0 1.1566 True ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC115 gene CCDC115 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo, MIM#616828 26833332 False 3 100;0;0 1.1566 True ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC39 gene CCDC39 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807 (3) 21131972 False 3 100;0;0 1.1566 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15 MIM#613808 21131974;31650533 False 3 100;0;0 1.1566 True ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC8 gene CCDC8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, 614205 (3) 21737058 False 3 100;0;0 1.1566 True ENSG00000169515 ENSG00000169515 HGNC:25367 CCDC88C gene CCDC88C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 1 MIM#236600 34092257;29341397;23042809;21031079 False 3 100;0;0 1.1566 True ENSG00000015133 ENSG00000015133 HGNC:19967 CCNO gene CCNO Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary diskinesia, primary, 29, MIM#615872 24747639;31765523;28801648 False 3 100;0;0 1.1566 True ENSG00000152669 ENSG00000152669 HGNC:18576 CD27 gene CD27 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2, MIM# 615122 22197273;22801960;22365582;25843314;11062504 False 3 100;0;0 1.1566 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD3D gene CD3D Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 19, severe combined MIM# 615617 False 3 100;0;0 1.1566 True ENSG00000167286 ENSG00000167286 HGNC:1673 CD40 gene CD40 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3, 606843 (3) False 3 100;0;0 1.1566 True ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) 7679801;7679206;8094231;9933119;15358621;15997875;7678782;7915248;15367912;7518839;16311023;9933119;12402041;7882172;33475257 False 3 100;0;0 1.1566 True ENSG00000102245 ENSG00000102245 HGNC:11935 CD55 gene CD55 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive 28657829 False 3 100;0;0 1.1566 True ENSG00000196352 ENSG00000196352 HGNC:2665 CDC45 gene CDC45 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 7, 617063 31474763;27374770;30986546;33639314;34000999;11416137;21358631 False 3 100;0;0 1.1566 True ENSG00000093009 ENSG00000093009 HGNC:1739 CDH11 gene CDH11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Elsahy-Waters syndrome MIM#211380 29271567 False 3 100;0;0 1.1566 True ENSG00000140937 ENSG00000140937 HGNC:1750 CDH23 gene CDH23 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D (MIM#601067) 33316915 False 3 100;0;0 1.1566 True ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280;Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553 11544476;15805154;28061825;22140374 False 3 100;0;0 1.1566 True ENSG00000062038 ENSG00000062038 HGNC:1762 CDK10 gene CDK10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Al Kaissi syndrome, 617694 (3), Autosomal recessive 28886341;29130579;34974531 False 3 100;0;0 1.1566 True ENSG00000185324 ENSG00000185324 HGNC:1770 CDK5RAP2 gene CDK5RAP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MIM#604804 15793586;22887808;23995685;23726037;27761245;20460369;32677750;32015000 False 3 100;0;0 1.1566 True ENSG00000136861 ENSG00000136861 HGNC:18672 CDT1 gene CDT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, 613804 (3) 11992493;21358631 False 3 100;0;0 1.1566 True ENSG00000167513 ENSG00000167513 HGNC:24576 CENPJ gene CENPJ Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 6, primary MIM#608393;Seckel syndrome 4 MIM#613676 36334884 False 3 100;0;0 1.1566 True ENSG00000151849 ENSG00000151849 HGNC:17272 CEP120 gene CEP120 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 31, MIM# 617761;Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 27208211;33486889;29847808;25361962;27208211 False 3 100;0;0 1.1566 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP152 gene CEP152 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 9, primary, autosomal recessive, MIM# 614852;MONDO:0013923;Seckel syndrome 5, MIM# 613823;MONDO:0013443 20598275;22775483;21131973;23199753;36685824 False 3 100;0;0 1.1566 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP290 gene CEP290 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5, 610188 (3) 17345604;16909394;24807808;16682970;16682973;27434533;20690115;32208788 False 3 100;0;0 1.1566 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 22246503;36580738 False 3 100;0;0 1.1566 True ENSG00000106477 ENSG00000106477 HGNC:12370 CEP78 gene CEP78 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss, MIM#617236 35240912 False 3 100;0;0 1.1566 True ENSG00000148019 ENSG00000148019 HGNC:25740 CERS3 gene CERS3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 9, MIM# 615023;MONDO:0014010 23754960;23549421;31168818;30578701;37128664 False 3 100;0;0 1.1566 True ENSG00000154227 ENSG00000154227 HGNC:23752 CFD gene CFD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Complement factor D deficiency, MIM# 613912 11457876;16527897;31440263 False 3 100;0;0 1.1566 True ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Complement factor H deficiency, 609814 (3) False 3 0;100;0 1.1566 True ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Complement factor I deficiency, MIM#610984 28942469 False 3 100;0;0 1.1566 True ENSG00000205403 ENSG00000205403 HGNC:5394 CFL2 gene CFL2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, autosomal recessive, 610687 (3) 29457652;17160903;22560515 False 3 100;0;0 1.1566 True ENSG00000165410 ENSG00000165410 HGNC:1875 CFP gene CFP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Properdin deficiency, X-linked, 312060 (3) 22229731;10909851 False 3 100;0;0 1.1566 True ENSG00000126759 ENSG00000126759 HGNC:8864 CFTR gene CFTR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM#219700;MONDO:0009061 31199594;19092437;38153325;26708955;32172939 False 3 100;0;0 1.1566 True ENSG00000001626 ENSG00000001626 HGNC:1884 CHAT gene CHAT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) 11172068;12756141;31192527;29518833;29189923 False 3 100;0;0 1.1566 True ENSG00000070748 ENSG00000070748 HGNC:1912 CHKB gene CHKB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, MIM#602541 21665002;23692895;24997086 False 3 100;0;0 1.1566 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHRNA1 gene CHRNA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type, MIM#253290;Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930;Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 18806275;10195214;12588888;18252226;36092864 False 3 100;0;0 1.1566 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHRND gene CHRND Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple pterygium syndrome, lethal type MIM#253290;Myasthenic syndrome, congenital, 3B, fast-channel MIM#616322 30808424 False 3 100;0;0 1.1566 True ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809;Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931 PMID: 20301347 False 3 100;0;0 1.1566 True ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Escobar syndrome (MIM# 265000);Multiple pterygium syndrome, lethal type, (MIM# 253290) 16826520;16826531;22167768 False 3 100;0;0 1.1566 True ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 34815299 False 3 100;0;0 1.1566 True ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3) 18513679 False 3 100;0;0 1.1566 True ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, MIM# 605282 21129728;21129727;24269551 False 3 100;0;0 1.1566 True ENSG00000131873 ENSG00000131873 HGNC:17198 CIITA gene CIITA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) 8402893 9099848 11862382;28676232;24789686;20197681;11466404;15821736;12910265 False 3 100;0;0 1.1566 True ENSG00000179583 ENSG00000179583 HGNC:7067 CISD2 gene CISD2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2 MIM#604928;MONDO:0011502 35055657;29237418;28335035;27459537;26230298;17846994 False 3 100;0;0 1.1566 True ENSG00000145354 ENSG00000145354 HGNC:24212 CIT gene CIT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 17, primary, autosomal recessive, 617090 (3) 27453578;27503289;27453579;27519304 False 3 100;0;0 1.1566 True ENSG00000122966 ENSG00000122966 HGNC:1985 CKAP2L gene CKAP2L Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Filippi syndrome, MIM#272440 25439729;33913579;29473684 False 3 100;0;0 1.1566 True ENSG00000169607 ENSG00000169607 HGNC:26877 CLCF1 gene CLCF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 2, 610313 (3) 16782820;21370513;20400119 False 3 100;0;0 1.1566 True ENSG00000175505 ENSG00000175505 HGNC:17412 CLCN2 gene CLCN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia MIM#615651;leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292 23707145;38173802;29403011;29403012 False 3 100;0;0 1.1566 True ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN4 gene CLCN4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Raynaud-Claes syndrome, MIM #300114 27550844;33951195;25644381;34479510;37409888 False 3 100;0;0 1.1566 True ENSG00000073464 ENSG00000073464 HGNC:2022 CLCN5 gene CLCN5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease, MIM#300009 False 3 100;0;0 1.1566 True ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN7 gene CLCN7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, 611490 (3) 19507210;11207362;11741829;14584882;19953639 False 3 100;0;0 1.1566 True ENSG00000103249 ENSG00000103249 HGNC:2025 CLCNKB gene CLCNKB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4b, digenic, 613090 (3) 25810436;24965226 False 3 100;0;0 1.1566 True ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN1 gene CLDN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3) 11889141;12164927;35304779;36779798 False 3 100;0;0 1.1566 True ENSG00000163347 ENSG00000163347 HGNC:2032 CLDN10 gene CLDN10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal HELIX syndrome, MIM#617671 37984702;31671507;28674042;38927623 False 3 50;50;0 1.1566 True ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN19 gene CLDN19 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190 27530400;17033971;22422540 False 3 100;0;0 1.1566 True ENSG00000164007 ENSG00000164007 HGNC:2040 CLMP gene CLMP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital short bowel syndrome , MIM#615237 22155368 False 3 100;0;0 1.1566 True ENSG00000166250 ENSG00000166250 HGNC:24039 CLN3 gene CLN3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, MIM# 204200;MONDO:0008767 7553855;9004140;9311735;31926949 False 3 100;0;0 1.1566 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM# 256731;MONDO:0009745 False 3 100;0;0 1.1566 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal 6, 601780 (3) 30561534 False 3 100;0;0 1.1566 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, 600143 (3) False 3 0;0;0 1.1566 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLP1 gene CLP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 10, 615803 (3) 24766809;24766810;23474986;29307788 False 3 100;0;0 1.1566 True ENSG00000172409 ENSG00000172409 HGNC:16999 CLPB gene CLPB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271) 34140661 False 3 100;0;0 1.1566 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 (3) 23541340;27087618;27899912;25254289 False 3 100;0;0 1.1566 True ENSG00000125656 ENSG00000125656 HGNC:2084 CLRN1 gene CLRN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 3A (MIM#276902) 23304067;35481838 False 3 100;0;0 1.1566 True ENSG00000163646 ENSG00000163646 HGNC:12605 CNGB3 gene CNGB3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Macular degeneration, juvenile, 248200 (3) 17265047;28795510;12140185;28795510 False 3 100;0;0 1.1566 True ENSG00000170289 ENSG00000170289 HGNC:2153 CNNM4 gene CNNM4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Jalili syndrome, 217080 (3) 30705057;29421294;19200527;19200525 False 3 0;0;0 1.1566 True ENSG00000158158 ENSG00000158158 HGNC:105 CNTNAP1 gene CNTNAP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 7, MIM # 616286;Hypomyelinating neuropathy, congenital, 3, MIM # 618186 28374019;29511323;29882456;27668699 False 3 100;0;0 1.1566 True ENSG00000108797 ENSG00000108797 HGNC:8011 CNTNAP2 gene CNTNAP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pitt-Hopkins like syndrome 1 MIM#610042 16571880;19896112;27439707;37183190;30762603 False 3 100;0;0 1.1566 True ENSG00000174469 ENSG00000174469 HGNC:13830 COG6 gene COG6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIl, 614576 (3) 20605848;23430903;26260076;32905044;32683677;31420886 False 3 100;0;0 1.1566 True ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe, MIM # 608779 15107842;17356545;28883096;17395513;16151902 False 3 100;0;0 1.1566 True ENSG00000168434 ENSG00000168434 HGNC:18622 COL11A1 gene COL11A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fibrochondrogenesis 1, 228520 (3) 21035103;32427345 False 3 100;0;0 1.1566 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fibrochondrogenesis 2, 614524 (3) False 3 0;0;0 1.1566 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL17A1 gene COL17A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787 20301304;21357940 False 3 100;0;0 1.1566 True ENSG00000065618 ENSG00000065618 HGNC:2194 COL18A1 gene COL18A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, 267750 (3) 27259167;25456301;30007336 False 3 100;0;0 1.1566 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL27A1 gene COL27A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Steel Syndrome, MIM#615155 32360765;33963180 False 3 100;0;0 1.1566 True ENSG00000196739 ENSG00000196739 HGNC:22986 COL4A3 gene COL4A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome 3b, autosomal recessive MIM#620536;MONDO:0957811 24052634;35419377;39071776 False 3 100;0;0 1.1566 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome, autosomal recessive, 203780 (3) 20301386 False 3 100;0;0 1.1566 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome 1, X-linked, MIM#301050 36531881;19965530;36341250 False 3 100;0;0 1.1566 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL6A1 gene COL6A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 1, 254090 (3) 20301676;25535305;15955946;23738969;29277723;24443028 False 3 100;0;0 1.1566 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bethlem myopathy 1B, MIM# 620725;Ullrich congenital muscular dystrophy 1B, MIM# 620727 False 3 100;0;0 1.1566 True ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 1, MIM#254090 20301676;37082441 False 3 100;0;0 1.1566 True ENSG00000163359 ENSG00000163359 HGNC:2213 COL7A1 gene COL7A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa dystrophica, MIM#226600 31670143;32506467;25639640 False 3 100;0;0 1.1566 True ENSG00000114270 ENSG00000114270 HGNC:2214 COLEC11 gene COLEC11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2, MIM# 265050;MONDO:0009927 21258343;26789649;28301481 False 3 100;0;0 1.1566 True ENSG00000118004 ENSG00000118004 HGNC:17213 COLQ gene COLQ Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 5 MIM#603034;MONDO:0011281 9689136;9758617;11865139;32978031;31831253;29478601;23995276;36835142 False 3 100;0;0 1.1566 True ENSG00000206561 ENSG00000206561 HGNC:2226 COQ2 gene COQ2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, 607426 (3) 16400613;17855635;17332895 False 3 100;0;0 1.1566 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, 616276 (3) False 3 100;0;0 1.1566 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650 (3) 28125198 False 3 100;0;0 1.1566 True ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8A gene COQ8A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4, 612016 (3) 32337771 False 3 100;0;0 1.1566 True ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9, 615573 (3) PMID: 35483523 False 3 0;0;0 1.1566 True ENSG00000123815 ENSG00000123815 HGNC:19041 COX10 gene COX10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046 10767350;12928484;15455402;27290639 False 3 100;0;0 1.1566 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119 15235026;12474143;32232962 False 3 100;0;0 1.1566 True ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054 33751098 False 3 100;0;0 1.1566 True ENSG00000203667 ENSG00000203667 HGNC:26970 CPS1 gene CPS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency, 237300 (3) 8486760;17310273;21120950;9862865;29801986;27834067;27150549;22173106 False 3 100;0;0 1.1566 True ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, 255120 (3) 12189492;25778941;23430932 False 3 100;0;0 1.1566 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile MIM#600649;CPT II deficiency, lethal neonatal MIM#608836;CPT II deficiency, myopathic, stress-induced MIM#255110 32295037 False 3 100;0;0 1.1566 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRB1 gene CRB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 8, 613835 (3) 11231775;11389483;16543197 False 3 100;0;0 1.1566 True ENSG00000134376 ENSG00000134376 HGNC:2343 CRB2 gene CRB2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM# 219730;MONDO:0009063;Focal segmental glomerulosclerosis 9, MIM# 616220;MONDO:0014539 25557780;33687977;32051522;30212996;33575434;31438467;30593785;25557779;27004616 False 3 100;0;0 1.1566 True ENSG00000148204 ENSG00000148204 HGNC:18688 CRLF1 gene CRLF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1, 272430 (3) 12509788;17436251;17436252 False 3 100;0;0 1.1566 True ENSG00000006016 ENSG00000006016 HGNC:2364 CRTAP gene CRTAP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII, 610682 (3) 21955071;19846465;17192541 False 3 100;0;0 1.1566 True ENSG00000170275 ENSG00000170275 HGNC:2379 CSPP1 gene CSPP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, 615636 (3) False 3 0;0;0 1.1566 False ENSG00000104218 ENSG00000104218 HGNC:26193 CSTB gene CSTB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) 27582036;9012407;38135787 False 3 0;100;0 1.1566 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTC1 gene CTC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3) 22267198;22387016 False 3 100;0;0 1.1566 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTNS gene CTNS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic MIM#219800;Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900;Cystinosis, atypical nephropathic MIM#219800 26523297;20301574;25165189;9537412;10625078;30554218;12370309 False 3 100;0;0 1.1566 True ENSG00000040531 ENSG00000040531 HGNC:2518 CTPS1 gene CTPS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 24, 615897 (3) 24870241 False 3 100;0;0 1.1566 True ENSG00000171793 ENSG00000171793 HGNC:2519 CTSA gene CTSA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Galactosialidosis MIM#256540 8968752;18391110;7759227;6812049;28603679;8838767;19466716;16674934;23915561;26036949;24769197;28555253;15110321;27243974 False 3 100;0;0 1.1566 True ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome MIM#245010;Papillon-Lefevre syndrome MIM#245000 False 3 50;50;0 1.1566 True ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 (3) False 3 100;0;0 1.1566 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3) False 3 0;0;100 1.1566 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis, 265800 (3) 33151655 False 3 100;0;0 1.1566 True ENSG00000143387 ENSG00000143387 HGNC:2536 CUL4B gene CUL4B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Cabezas type, MIM#300354 17236139;19377476 False 3 100;0;0 1.1566 True ENSG00000158290 ENSG00000158290 HGNC:2555 CUL7 gene CUL7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, MIM#273750 16142236;19225462;17675530 False 3 100;0;0 1.1566 True ENSG00000044090 ENSG00000044090 HGNC:21024 CWC27 gene CWC27 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 36718996;28285769;31481716;38956876;34828430 False 3 100;0;0 1.1566 True ENSG00000153015 ENSG00000153015 HGNC:10664 CYB5R3 gene CYB5R3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Methemoglobinaemia, type II (MIM# 250800) 31898843;38303731 False 3 100;0;0 1.1566 True ENSG00000100243 ENSG00000100243 HGNC:2873 CYBA gene CYBA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 4 MIM#233690 PMID: 22876374 False 3 100;0;0 1.1566 True ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease, X-linked, 306400 (3) 2556453;1710153;9585602 False 3 100;0;0 1.1566 True ENSG00000165168 ENSG00000165168 HGNC:2578 CYP11A1 gene CYP11A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) 12161514;16705068;18182448;28425981 False 3 100;0;0 1.1566 True ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B2 gene CYP11B2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency, MIM#203400 8439335;9360501;15240589;9814506;12788848;8772616 False 3 100;0;0 1.1566 True ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110 2843762;14671162;2026124;35178494;35043964 False 3 100;0;0 1.1566 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP1B1 gene CYP1B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM#231300;Anterior segment dysgenesis 6, multiple subtypes, MIM#617315 9463332;10655546;12372064;21081970 False 3 100;0;0 1.1566 True ENSG00000138061 ENSG00000138061 HGNC:2597 CYP27A1 gene CYP27A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 (3) 37508912;36619921 False 3 100;0;0 1.1566 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive MIM#615030 23176821;32006740;29034544;26914923;24337409;28725025 False 3 100;0;0 1.1566 True ENSG00000155016 ENSG00000155016 HGNC:20582 CYP4F22 gene CYP4F22 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 5, MIM#604777 False 3 100;0;0 1.1566 True ENSG00000171954 ENSG00000171954 HGNC:26820 CYP7B1 gene CYP7B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3, 613812 (3);Spastic paraplegia 5A, 270800 (3) 9802883;18252231;31337596;18252231 False 3 100;0;0 1.1566 True ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, MIM#600721 15609246;16081310;31349060;20020533;38825343 False 3 100;0;0 1.1566 True ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3) 27816769 False 3 100;0;0 1.1566 True ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3) 35820270 False 3 100;0;0 1.1566 True ENSG00000117593 ENSG00000117593 HGNC:25538 DBT gene DBT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II, 248600 (3) False 3 100;0;0 1.1566 True ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF17 gene DCAF17 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome MIM#241080 28542792;38320940;30409855;35876063 False 3 100;0;0 1.1566 True ENSG00000115827 ENSG00000115827 HGNC:25784 DCDC2 gene DCDC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, MIM #616217;Sclerosing cholangitis, neonatal, MIM #617394 25557784;31821705;27319779;27469900;36938759;34155636 False 3 100;0;0 1.1566 True ENSG00000146038 ENSG00000146038 HGNC:18141 DCHS1 gene DCHS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Van Maldergem syndrome 1, 601390 (3) 27262615;22473091;24056717;29046692 False 3 100;0;0 1.1566 True ENSG00000166341 ENSG00000166341 HGNC:13681 DCLRE1C gene DCLRE1C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type, MIM# 602450;Omenn syndrome, MIM# 603554 19953608;15699179;12055248;34220820 False 3 100;0;0 1.1566 True ENSG00000152457 ENSG00000152457 HGNC:17642 DCX gene DCX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked MIM#300067;Subcortical laminal heterotopia, X-linked MIM#300067 10915612;9489699;12552055;20301364;14625554 False 3 100;0;0 1.1566 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDC gene DDC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency 608643;Aromatic L-amino acid decarboxylase deficiency (MIM#608643) False 3 100;0;0 1.1566 True ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD2 gene DDHD2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive, MIM#615033 23486545;24482476;23176823;31302745 False 3 100;0;0 1.1566 True ENSG00000085788 ENSG00000085788 HGNC:29106 DDR2 gene DDR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3) 19110212;20223752;8434618;20223752;8465857 False 3 100;0;0 1.1566 True ENSG00000162733 ENSG00000162733 HGNC:2731 DDX11 gene DDX11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome, MIM#613398 30216658 False 3 100;0;0 1.1566 True ENSG00000013573 ENSG00000013573 HGNC:2736 DDX59 gene DDX59 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 (3) 28711741;29127725;23972372;28289185 False 3 100;0;0 1.1566 True ENSG00000118197 ENSG00000118197 HGNC:25360 DENND5A gene DENND5A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 49, MIM# 617281 27431290;27866705;32705489 False 3 100;0;0 1.1566 True ENSG00000184014 ENSG00000184014 HGNC:19344 DGAT1 gene DGAT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diarrhoea 7, protein-losing enteropathy type, MIM# 615863;congenital diarrhoea 7 with exudative enteropathy MONDO:0014375 33261563;32786057;31778854;28373485;29604290;31778854 False 3 100;0;0 1.1566 True ENSG00000185000 ENSG00000185000 HGNC:2843 DGKE gene DGKE Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7, MIM# 615008 23274426;23542698 False 3 100;0;0 1.1566 True ENSG00000153933 ENSG00000153933 HGNC:2852 DGUOK gene DGUOK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880 12874104;15887277;23043144 False 3 100;0;0 1.1566 True ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, 602398 (3) False 3 0;0;0 1.1566 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400 (3) 16906538;10602371;10677299 False 3 100;0;0 1.1566 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, MIM#613861;Congenital disorder of glycosylation, type 1bb, MIM# 613861 27343064;21295282 False 3 100;0;0 1.1566 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHODH gene DHODH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Miller syndrome, 263750 (3) 19915526;20220176;33262786;27370710 False 3 100;0;0 1.1566 True ENSG00000102967 ENSG00000102967 HGNC:2867 DIS3L2 gene DIS3L2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Perlman syndrome MIM# 267000 22306653;28328139;29950491 False 3 100;0;0 1.1566 True ENSG00000144535 ENSG00000144535 HGNC:28648 DKC1 gene DKC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked MIM#305000 20301779 False 3 0;0;0 1.1566 True ENSG00000130826 ENSG00000130826 HGNC:2890 DLD gene DLD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, 246900 (3) 39040027 False 3 100;0;0 1.1566 True ENSG00000091140 ENSG00000091140 HGNC:2898 DLG3 gene DLG3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 90 MIM#300850 24721225;28777483 False 3 100;0;0 1.1566 True ENSG00000082458 ENSG00000082458 HGNC:2902 DLL3 gene DLL3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300;MONDO:0020692 10742114;12746394;36506336 False 3 100;0;0 1.1566 True ENSG00000090932 ENSG00000090932 HGNC:2909 DMD gene DMD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Becker muscular dystrophy MIM#300376;Duchenne muscular dystrophy MIM#310200 20301298 False 3 100;0;0 1.1566 True ENSG00000198947 ENSG00000198947 HGNC:2928 DNAAF1 gene DNAAF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, MIM# 613193 19944400;19944405;32502479;29228333;27261005 False 3 100;0;0 1.1566 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF3 gene DNAAF3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, MIM#606763 22387996;32622824;31186518;33577779;39004944;35869935;39289782;38296613;32502479;33479112 False 3 100;0;0 1.1566 True ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482 (3) False 3 0;0;0 1.1566 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, 614874 (3) 23040496;25232951;29363216 False 3 100;0;0 1.1566 True ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 12142464;18022865;22102620;32633470;31879361;31765523;31040315 False 3 100;0;0 1.1566 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) False 3 0;0;0 1.1566 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM#244400 10577904;11231901;32502479;31765523;30622330 False 3 100;0;0 1.1566 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444 18950741 False 3 50;50;0 1.1566 True ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJC12 gene DNAJC12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 False 3 100;0;0 1.1566 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198 (3) 35611801;27928778 False 3 100;0;0 1.1566 True ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC21 gene DNAJC21 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000168724 ENSG00000168724 HGNC:27030 DNAJC6 gene DNAJC6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19, juvenile-onset, 615528 (3) False 3 0;0;0 1.1566 False ENSG00000116675 ENSG00000116675 HGNC:15469 DNMT3B gene DNMT3B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3) False 3 100;0;0 1.1566 True ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 40, 616433 (3) 26083206;29204803;33928462;30826364 False 3 100;0;0 1.1566 True ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK6 gene DOCK6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2, 614219 (3) 21820096;23522784;25132448;25824905 False 3 100;0;0 1.1566 True ENSG00000130158 ENSG00000130158 HGNC:19189 DOCK8 gene DOCK8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM#243700 19776401;20622910;21931011;26659092;19898472;25422492 False 3 100;0;0 1.1566 True ENSG00000107099 ENSG00000107099 HGNC:19191 DOK7 gene DOK7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 10, MIM# 254300;Fetal akinesia deformation sequence 3, MIM# 618389 16917026;18626973;20147321;16794080;31453852;29395672;32360404;19261599;31880392;34132406;37849383 False 3 100;0;0 1.1566 True ENSG00000175920 ENSG00000175920 HGNC:26594 DOLK gene DOLK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im, 610768 (3) False 3 0;0;0 1.1566 False ENSG00000175283 ENSG00000175283 HGNC:23406 DONSON gene DONSON Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly-micromelia syndrome (MIM#251230);Microcephaly, short stature, and limb abnormalities (MIM#617604) 31191207;29760432 False 3 100;0;0 1.1566 True ENSG00000159147 ENSG00000159147 HGNC:2993 DPAGT1 gene DPAGT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964;Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750 12872255;22304930;22742743;16870884 False 3 100;0;0 1.1566 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPH1 gene DPH1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive 39166428;33704902 False 3 100;0;0 1.1566 True ENSG00000108963 ENSG00000108963 HGNC:3003 DSP gene DSP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676);Epidermolysis bullosa, lethal acantholytic (MIM#609638) 22795705;16175511;20302578;20613772;16467215 False 3 100;0;0 1.1566 True ENSG00000096696 ENSG00000096696 HGNC:3052 DYM gene DYM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease MIM#223800;Smith-McCort dysplasia MIM#607326 16326827;38860472;35477554 False 3 0;0;0 1.1566 True ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC2H1 gene DYNC2H1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) False 3 0;0;0 1.1566 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive 33030252 False 3 100;0;0 1.1566 True ENSG00000138036 ENSG00000138036 HGNC:24595 DYSF gene DYSF Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1 MIM#254130;MONDO:0024545;Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601;MONDO:0009676;Myopathy, distal, with anterior tibial onset MIM#606768;MONDO:0011721 37762951;38540676;36542547;32400077 False 3 100;0;0 1.1566 True ENSG00000135636 ENSG00000135636 HGNC:3097 EARS2 gene EARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12 MIM#614924 39173847 False 3 0;0;0 1.1566 True ENSG00000103356 ENSG00000103356 HGNC:29419 ECEL1 gene ECEL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, type 5D, 615065 (3) 23261301;23236030;25099528;24782201 False 3 100;0;0 1.1566 True ENSG00000171551 ENSG00000171551 HGNC:3147 ECHS1 gene ECHS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3) 32642440 False 3 100;0;0 1.1566 True ENSG00000127884 ENSG00000127884 HGNC:3151 EDA gene EDA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 27144394;8696334;9507389;9683615;18657636 False 3 100;0;0 1.1566 True ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 10431241;16435307;20979233;23401279 False 3 100;0;0 1.1566 True ENSG00000135960 ENSG00000135960 HGNC:2895 EFEMP2 gene EFEMP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB, 614437 (3) 21563328;30140196 False 3 100;0;0 1.1566 True ENSG00000172638 ENSG00000172638 HGNC:3219 EFNB1 gene EFNB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Craniofrontonasal dysplasia (MIM#304110) False 3 67;33;0 1.1566 True ENSG00000090776 ENSG00000090776 HGNC:3226 EIF2AK3 gene EIF2AK3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome MIM#226980 10932183;12960215;16813601;11997520;20202148;11430819 False 3 100;0;0 1.1566 True ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2AK4 gene EIF2AK4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pulmonary venoocclusive disease 2, 234810 (3) False 3 0;0;0 1.1566 False ENSG00000128829 ENSG00000128829 HGNC:19687 EIF2B1 gene EIF2B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896 34745209 False 3 100;0;0 1.1566 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312 14566705;21484434;28041799;11704758 False 3 100;0;0 1.1566 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 (3) False 3 0;0;0 1.1566 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephaly with vanishing white matter, 603896 (3) 11835386;12707859;18263758;25843247;25761052;30014503;39139316 False 3 100;0;0 1.1566 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896 (3) 20975056;37674283;25761052 False 3 100;0;0 1.1566 True ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome, MIM# 300148 23063529;27333055;28055140 False 3 100;0;0 1.1566 True ENSG00000130741 ENSG00000130741 HGNC:3267 ELAC2 gene ELAC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, MIM#615440 23849775;31045291 False 3 100;0;0 1.1566 True ENSG00000006744 ENSG00000006744 HGNC:14198 ELP1 gene ELP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial MIM#223900;Hereditary sensory and autonomic neuropathy type III (HSAN3) 11179021;4322121;16777588;30905397 False 3 100;0;0 1.1566 True ENSG00000070061 ENSG00000070061 HGNC:5959 ELP2 gene ELP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 58, MIM# 617270 21937992;25847581;32573669;34653680 False 3 100;0;0 1.1566 True ENSG00000134759 ENSG00000134759 HGNC:18248 EMD gene EMD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, MIM# 310300 21697856;31802929;31645980 False 3 100;0;0 1.1566 True ENSG00000102119 ENSG00000102119 HGNC:3331 EML1 gene EML1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Band heterotopia, 600348 (3), Autosomal recessive 31710781 False 3 100;0;0 1.1566 True ENSG00000066629 ENSG00000066629 HGNC:3330 ENPP1 gene ENPP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1 MIM#208000;Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312 36150100 False 3 100;0;0 1.1566 True ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4, MIM#615297 31368252;23522784;29924900 False 3 100;0;0 1.1566 True ENSG00000163378 ENSG00000163378 HGNC:28526 EPCAM gene EPCAM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, 613217 (3) 24142340 False 3 100;0;0 1.1566 True ENSG00000119888 ENSG00000119888 HGNC:11529 EPG5 gene EPG5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Vici syndrome MIM# 242840 23222957;26917586 False 3 100;0;0 1.1566 True ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3) 9771710;9931343;11175283;12019207;12560877;14722920;30947044;22036712;16311711;28818698 False 3 100;0;0 1.1566 True ENSG00000112425 ENSG00000112425 HGNC:3413 ERCC2 gene ERCC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 2, MIM# 610756;Trichothiodystrophy 1, photosensitive, MIM# 601675;Xeroderma pigmentosum, group D, MIM# 278730 20301571;32047639;33369099 False 3 100;0;0 1.1566 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC4 gene ERCC4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272 (3) False 3 0;0;0 1.1566 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G, 278780 (3) False 3 0;0;0 1.1566 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 20301516 False 3 100;0;0 1.1566 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC6L2 gene ERCC6L2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, 615715 (3) 37696499;29987015 False 3 100;0;0 1.1566 True ENSG00000182150 ENSG00000182150 HGNC:26922 ERCC8 gene ERCC8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM#216400 False 3 100;0;0 1.1566 True ENSG00000049167 ENSG00000049167 HGNC:3439 ESCO2 gene ESCO2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Juberg-Hayward syndrome (MIM#216100);Roberts-SC phocomelia syndrome (MIM#268300) 32977150 False 3 100;0;0 1.1566 True ENSG00000171320 ENSG00000171320 HGNC:27230 ETFA gene ETFA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, 231680 (3) 31904027 False 3 100;0;0 1.1566 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidaemia IIB, MIM# 231680 7912128;12815589;27081516;12706375;30626930 False 3 100;0;0 1.1566 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, 231680 (3) 31904027 False 3 100;0;0 1.1566 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473 (3) 14732903;28933811 False 3 100;0;0 1.1566 True ENSG00000105755 ENSG00000105755 HGNC:23287 EVC gene EVC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500 (3) 23220543 False 3 100;0;0 1.1566 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500 (3) 23220543;10700184;33050204 False 3 100;0;0 1.1566 True ENSG00000173040 ENSG00000173040 HGNC:19747 EXOSC3 gene EXOSC3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, MIM# 614678 22544365;23284067;24524299 False 3 100;0;0 1.1566 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, 616081 (3) 38017281 False 3 100;0;0 1.1566 True ENSG00000120699 ENSG00000120699 HGNC:17035 EXTL3 gene EXTL3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425 28132690;28148688;28331220;38010729;35114981 False 3 100;0;0 1.1566 True ENSG00000012232 ENSG00000012232 HGNC:3518 F2 gene F2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dysprothrombinaemia, 613679;Hypoprothrombinaemia (MIM#613679) False 3 67;33;0 1.1566 True ENSG00000180210 ENSG00000180210 HGNC:3535 F7 gene F7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency, 227500 (3) False 3 100;0;0 1.1566 True ENSG00000057593 ENSG00000057593 HGNC:3544 FA2H gene FA2H Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, 612319 (3) 31135052;31837835;22146942;19068277 False 3 100;0;0 1.1566 True ENSG00000103089 ENSG00000103089 HGNC:21197 FAH gene FAH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I, 276700 (3) False 3 0;0;0 1.1566 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM126A gene FAM126A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 5, 610532 (3) False 3 0;0;0 1.1566 False ENSG00000122591 ENSG00000122591 HGNC:24587 FAM20C gene FAM20C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Raine syndrome, 259775 (3) False 3 0;0;0 1.1566 False ENSG00000177706 ENSG00000177706 HGNC:22140 FANCA gene FANCA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650 (3) False 3 0;0;0 1.1566 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anemia, complementation group B, 300514 (3) False 3 100;0;0 1.1566 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, 227645 (3) 29376519;31044565;30792206;28717661 False 3 100;0;0 1.1566 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2, 227646 (3) False 3 0;0;0 1.1566 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM#600901 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 1.1566 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F, MIM#603467 10615118;31288759;20301575 False 3 100;0;0 1.1566 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, 614082 (3) 9806548;12552564 False 3 100;0;0 1.1566 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053 (3) 17452773;20301575;26590883 False 3 100;0;0 1.1566 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, 614083 (3) False 3 0;0;0 1.1566 False ENSG00000115392 ENSG00000115392 HGNC:20748 FARS2 gene FARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 14 (MIM#614946);Spastic paraplegia 77 (MIM#617046) 30869852 False 3 100;0;0 1.1566 True ENSG00000145982 ENSG00000145982 HGNC:21062 FAT4 gene FAT4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006;Van Maldergem syndrome 2 MIM#615546 29681106;24913602;24056717;22473091 False 3 100;0;0 1.1566 True ENSG00000196159 ENSG00000196159 HGNC:23109 FBLN5 gene FBLN5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IA, 219100 (3) 3232707;22829427;31945625;28332470 False 3 100;0;0 1.1566 True ENSG00000140092 ENSG00000140092 HGNC:3602 FBP1 gene FBP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency, 229700 (3) False 3 0;0;0 1.1566 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 28940506;23993194 False 3 100;0;0 1.1566 True ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO7 gene FBXO7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, MIM#260300 34396589;20301402;18513678;34781237;19038853 False 3 100;0;0 1.1566 True ENSG00000100225 ENSG00000100225 HGNC:13586 FERMT1 gene FERMT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Kindler syndrome, MIM#173650 26937547 False 3 100;0;0 1.1566 True ENSG00000101311 ENSG00000101311 HGNC:15889 FERMT3 gene FERMT3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III, 612840 (3) False 3 0;0;0 1.1566 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGA gene FGA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenemia, congenital, 202400 (3) False 3 100;0;0 1.1566 True ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenemia, congenital, 202400 (3) False 3 100;0;0 1.1566 True ENSG00000171564 ENSG00000171564 HGNC:3662 FGD4 gene FGD4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4H, 609311 (3) False 3 0;0;0 1.1566 False ENSG00000139132 ENSG00000139132 HGNC:19125 FGG gene FGG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenemia, congenital, 202400 (3) 34196169 False 3 100;0;0 1.1566 True ENSG00000171557 ENSG00000171557 HGNC:3694 FH gene FH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, MIM# 606812 8200987;20549362;31746132;20301679 False 3 100;0;0 1.1566 True ENSG00000091483 ENSG00000091483 HGNC:3700 FHL1 gene FHL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) False 3 0;0;0 1.1566 False ENSG00000022267 ENSG00000022267 HGNC:3702 FIG4 gene FIG4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Yunis-Varon syndrome, MIM#216340 30740813;23623387;17572665;24878229 False 3 100;0;0 1.1566 True ENSG00000112367 ENSG00000112367 HGNC:16873 FKBP10 gene FKBP10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bruck syndrome MIM#259450;osteogenesis imperfecta, type XI, MIM#610968 20362275;22718341;22689593;22718341 False 3 100;0;0 1.1566 True ENSG00000141756 ENSG00000141756 HGNC:18169 FKBP14 gene FKBP14 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) False 3 0;0;0 1.1566 False ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy caused by variation in FKRP MONDO:0700066 38277301;11592034;11741828;15121789 False 3 100;0;0 1.1566 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, dilated, 1X MIM#611615;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800;Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM# 611588" 9690476;19017726;20301385;28680109;17036286 False 3 0;0;0 1.1566 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLNA gene FLNA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females FG syndrome 2, MIM#300321;Frontometaphyseal dysplasia 1, MIM#305620;Heterotopia, periventricular, 1, MIM#300049;Intestinal pseudoobstruction, neuronal, MIM#300048;Melnick-Needles syndrome, MIM#309350;Otopalatodigital syndrome, type I, MIM#311300;Otopalatodigital syndrome, type II, MIM#304120;Terminal osseous dysplasia, MIM#300244 30089473;26471271;22366253 False 3 100;0;0 1.1566 True ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylocarpotarsal synostosis syndrome, 272460 (3) 29566257;22190451;17360453;20301736 False 3 100;0;0 1.1566 True ENSG00000136068 ENSG00000136068 HGNC:3755 FLVCR1 gene FLVCR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related 39306721 False 3 100;0;0 1.1566 True ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR2 gene FLVCR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3) False 3 0;0;0 1.1566 False ENSG00000119686 ENSG00000119686 HGNC:20105 FMR1 gene FMR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fragile X syndrome, MIM #300624 20301558;28176767;29178241 False 3 100;0;0 1.1566 True ENSG00000102081 ENSG00000102081 HGNC:3775 FOLR1 gene FOLR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, MIM#613068 19732866;30420205;27743887 False 3 100;0;0 1.1566 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOXE3 gene FOXE3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 27218149;21150893;31884615;29878917;29713869 False 3 100;0;0 1.1566 True ENSG00000186790 ENSG00000186790 HGNC:3808 FOXN1 gene FOXN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705 10206641;20978268;20978268;28636882;31566583;31447097 False 3 100;0;0 1.1566 True ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP3 gene FOXP3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) 11295725;11137993;33668198;33614561;33330291;32234571 False 3 100;0;0 1.1566 True ENSG00000049768 ENSG00000049768 HGNC:6106 FOXRED1 gene FOXRED1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241 33613441;20858599 False 3 100;0;0 1.1566 True ENSG00000110074 ENSG00000110074 HGNC:26927 FRAS1 gene FRAS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome, 219000 (3) False 3 0;0;0 1.1566 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Manitoba oculotrichoanal syndrome MIM# 248450;Bifid nose with or without anorectal and renal anomalies, MIM# 608980 20301721;21507892;19732862;28111185;19732862;32016392;21931569 False 3 0;0;0 1.1566 True ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome, 219000 (3) 15838507;8203166;36720431;33082983 False 3 100;0;0 1.1566 True ENSG00000150893 ENSG00000150893 HGNC:25396 FRRS1L gene FRRS1L Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 37, MIM#616981 27236917;27239025;30692144 False 3 100;0;0 1.1566 True ENSG00000260230 ENSG00000260230 HGNC:1362 FTO gene FTO Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Growth retardation, developmental delay, facial dysmorphism MIM#612938 19234441;19559399;26378117;26697951;26378117;26740239 False 3 100;0;0 1.1566 True ENSG00000140718 ENSG00000140718 HGNC:24678 FTSJ1 gene FTSJ1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 9, 309549 (3) False 3 0;0;0 1.1566 False ENSG00000068438 ENSG00000068438 HGNC:13254 FUCA1 gene FUCA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000 False 3 100;0;0 1.1566 True ENSG00000179163 ENSG00000179163 HGNC:4006 FYCO1 gene FYCO1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cataract 18, autosomal recessive, 610019 (3) False 3 0;0;0 1.1566 False ENSG00000163820 ENSG00000163820 HGNC:14673 G6PC gene G6PC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, 232200 (3) 20301489 False 3 100;0;0 1.1566 True ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dursun syndrome, MIM# 612541;Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 False 3 100;0;0 1.1566 True ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300 (3) False 3 0;0;0 1.1566 False ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Krabbe disease, MIM# 245200;MONDO:0009499 20886637;21070211;30899093;24252386 False 3 100;0;0 1.1566 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALNS gene GALNS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, 253000 (3) 9298823;23137060;18412124 False 3 100;0;0 1.1566 True ENSG00000141012 ENSG00000141012 HGNC:4122 GALT gene GALT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Galactosemia MIM# 230400 False 3 100;0;0 1.1566 True ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2, 612736 (3) 33996490;38469086 False 3 100;0;0 1.1566 True ENSG00000130005 ENSG00000130005 HGNC:4136 GAN gene GAN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, 256850 (3) 30532362;11062483 False 3 100;0;0 1.1566 True ENSG00000261609 ENSG00000261609 HGNC:4137 GAS8 gene GAS8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive False 3 100;0;0 1.1566 False ENSG00000141013 ENSG00000141013 HGNC:4166 GATM gene GATM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3, 612718 (3) 11555793;27604308 False 3 100;0;0 1.1566 True ENSG00000171766 ENSG00000171766 HGNC:4175 GBA2 gene GBA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, MIM# 614409 23332916;23332917;29524657 False 3 100;0;0 1.1566 True ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM#232500 False 3 100;0;0 1.1566 True ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I, MIM#231670 31788423;37020324 False 3 100;0;0 1.1566 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal GTP cyclohydrolase I deficiency MONDO:0100184 10737119;9667588 False 3 100;0;0 1.1566 True ENSG00000131979 ENSG00000131979 HGNC:4193 GDAP1 gene GDAP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) False 3 100;0;0 1.1566 False ENSG00000104381 ENSG00000104381 HGNC:15968 GDF1 gene GDF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Right atrial isomerism, 208530 (3) False 3 100;0;0 1.1566 False ENSG00000130283 ENSG00000130283 HGNC:4214 GDF5 gene GDF5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia, Grebe type, 200700 (3) 33333243;20683927;33872773 False 3 100;0;0 1.1566 True ENSG00000125965 ENSG00000125965 HGNC:4220 GDI1 gene GDI1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 41, 300849 (3) False 3 100;0;0 1.1566 False ENSG00000203879 ENSG00000203879 HGNC:4226 GFM1 gene GFM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, 609060 (3) False 3 100;0;0 1.1566 True ENSG00000168827 ENSG00000168827 HGNC:13780 GFPT1 gene GFPT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, MIM#610542 21310273;30635494;2131027;23794683 False 3 100;0;0 1.1566 True ENSG00000198380 ENSG00000198380 HGNC:4241 GHR gene GHR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Laron dwarfism, MIM#262500 37474955;20583548;31429861 False 3 100;0;0 1.1566 True ENSG00000112964 ENSG00000112964 HGNC:4263 GJA1 gene GJA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Craniometaphyseal dysplasia, autosomal recessive MIM#218400;Oculodentodigital dysplasia, autosomal recessive MIM#257850 23951358;29902798;34035645 False 3 100;0;0 1.1566 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 Expert Review Green;Literature Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)" False 3 67;33;0 1.1566 True ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2, 608804 (3) False 3 0;0;0 1.1566 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, MIM#301500 29649853;20301469 False 3 100;0;0 1.1566 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I MIM#230500;GM1-gangliosidosis, type II MIM#230600;GM1-gangliosidosis, type III MIM#230650;Mucopolysaccharidosis type IVB (Morquio) MIM#253010 34539759;24156116;16941474;17309651;25936995;32219518;1928092;33558080;10841810 False 3 100;0;0 1.1566 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 (3) 36817643;34513771 False 3 100;0;0 1.1566 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLDN gene GLDN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) False 3 100;0;0 1.1566 False ENSG00000119392 ENSG00000119392 HGNC:4315 GLIS3 gene GLIS3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199 21139041;35410112;35394098;34093443 False 3 100;0;0 1.1566 True ENSG00000107249 ENSG00000107249 HGNC:28510 GLYCTK gene GLYCTK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria, MIM#220120 20949620;31837836;39619776 False 3 100;0;0 1.1566 True ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750 (3) False 3 100;0;0 1.1566 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPA gene GMPPA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510) 24035193;28574218 False 3 100;0;0 1.1566 True ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 36833299 False 3 100;0;0 1.1566 True ENSG00000173540 ENSG00000173540 HGNC:22932 GNAT2 gene GNAT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Achromatopsia 4 MIM#613856 32203983;17251445;15557429;23580486;31058429;12077706;12205108;27718025;21107338;28041643 False 3 100;0;0 1.1566 True ENSG00000134183 ENSG00000134183 HGNC:4394 GNB5 gene GNB5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173);Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182) 34436834 False 3 100;0;0 1.1566 True ENSG00000069966 ENSG00000069966 HGNC:4401 GNE gene GNE Expert Review Green;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 3 0;100;0 1.1566 True ENSG00000159921 ENSG00000159921 HGNC:23657 GNPAT gene GNPAT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5) 9536089;11152660;21990100 False 3 100;0;0 1.1566 True ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III alpha/beta MIM#252600;Mucolipidosis II alpha/beta MIM#252500 20301728 False 3 100;0;0 1.1566 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, 252605 (3) False 3 0;0;0 1.1566 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, 252940 (3) 31536183 False 3 100;0;0 1.1566 True ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum, MIM#231070;MONDO:0009271 19681135;9018419;18348262 False 3 100;0;0 1.1566 True ENSG00000120370 ENSG00000120370 HGNC:25676 GOSR2 gene GOSR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6 MIM#614018;Muscular dystrophy, congenital, with or without seizures MIM#620166 29855340;33639315;1549339;23449775;24458321;30838261;32105965 False 3 100;0;0 1.1566 True ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810 29100095 False 3 100;0;0 1.1566 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPC3 gene GPC3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) 20301398;38766979 False 3 100;0;0 1.1566 True ENSG00000147257 ENSG00000147257 HGNC:4451 GPC6 gene GPC6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Omodysplasia 1, 258315 (3) 19481194;32655339;37353964 False 3 100;0;0 1.1566 True ENSG00000183098 ENSG00000183098 HGNC:4454 GPHN gene GPHN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, 615501 (3) 22040219;11095995;12754701 False 3 100;0;0 1.1566 True ENSG00000171723 ENSG00000171723 HGNC:15465 GPR143 gene GPR143 Expert Review Green;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 3 0;100;0 1.1566 True ENSG00000101850 ENSG00000101850 HGNC:20145 GPR179 gene GPR179 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3) False 3 0;0;0 1.1566 False ENSG00000188888 ENSG00000277399 HGNC:31371 GPSM2 gene GPSM2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome, MIM#604213 20602914;22578326;28387217;27180139;27064331 False 3 100;0;0 1.1566 True ENSG00000121957 ENSG00000121957 HGNC:29501 GPT2 gene GPT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281 27601654;25758935;31471722 False 3 100;0;0 1.1566 True ENSG00000166123 ENSG00000166123 HGNC:18062 GRM1 gene GRM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 13, 614831 (3) 22901947;26308914;31319223 False 3 100;0;0 1.1566 True ENSG00000152822 ENSG00000152822 HGNC:4593 GSS gene GSS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency, 266130 (3) False 3 100;0;0 1.1566 True ENSG00000100983 ENSG00000100983 HGNC:4624 GTF2H5 gene GTF2H5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive, MIM# 616395 30359777;24986372;37356817 False 3 100;0;0 1.1566 True ENSG00000272047 ENSG00000272047 HGNC:21157 GTPBP3 gene GTPBP3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, 616198 (3) False 3 100;0;0 1.1566 False ENSG00000130299 ENSG00000130299 HGNC:14880 GUCY1A3 gene GUCY1A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Moyamoya 6 with achalasia, 615750 (3) 36941667 False 3 100;0;0 1.1566 True ENSG00000164116 ENSG00000164116 HGNC:4685 GUCY2C gene GUCY2C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Meconium ileus, 614665 (3) False 3 0;0;0 1.1566 False ENSG00000070019 ENSG00000070019 HGNC:4688 GUCY2D gene GUCY2D Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 1, MIM#204000 15024725;35314386 False 3 100;0;0 1.1566 True ENSG00000132518 ENSG00000132518 HGNC:4689 GUSB gene GUSB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM# 253220 31661765;32063397 False 3 100;0;0 1.1566 True ENSG00000169919 ENSG00000169919 HGNC:4696 HACE1 gene HACE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756 26437029;26424145;31321300 False 3 100;0;0 1.1566 True ENSG00000085382 ENSG00000085382 HGNC:21033 HADH gene HADH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) False 3 0;0;0 1.1566 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fatty liver, acute, of pregnancy, 609016 (3) False 3 0;0;0 1.1566 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2 MIM#620300 False 3 100;0;0 1.1566 True ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B, 613313 (3) False 3 0;0;0 1.1566 False ENSG00000105697 ENSG00000105697 HGNC:15598 HAX1 gene HAX1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, MIM#610738 17187068;18611981 False 3 100;0;0 1.1566 True ENSG00000143575 ENSG00000143575 HGNC:16915 HBB gene HBB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thalassemias, beta-, 613985 (3) False 3 0;0;0 1.1566 False ENSG00000244734 ENSG00000244734 HGNC:4827 HCFC1 gene HCFC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541 34164576 False 3 100;0;0 1.1566 True ENSG00000172534 ENSG00000172534 HGNC:4839 HEPACAM gene HEPACAM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925 (3) 21419380 False 3 100;0;0 1.1566 True ENSG00000165478 ENSG00000165478 HGNC:26361 HERC2 gene HERC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 38 (MIM#615516) False 3 100;0;0 1.1566 True ENSG00000128731 ENSG00000128731 HGNC:4868 HES7 gene HES7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 4, autosomal recessive MIM#60859 23897666;18775957;20087400 False 3 100;0;0 1.1566 True ENSG00000179111 ENSG00000179111 HGNC:15977 HESX1 gene HESX1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Septooptic dysplasia, MIM#182230;Pituitary hormone deficiency, combined, 5 MIM#182230;Growth hormone deficiency with pituitary anomalies, MIM#182230 16940453 False 3 100;0;0 1.1566 True ENSG00000163666 ENSG00000163666 HGNC:4877 HEXA gene HEXA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease, 272800 (3) False 3 0;0;0 1.1566 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800 35711818 False 3 100;0;0 1.1566 True ENSG00000049860 ENSG00000049860 HGNC:4879 HFE2 gene HFE2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 2A, 602390 (3) False 3 100;0;0 1.1566 True ENSG00000168509 ENSG00000168509 HGNC:4887 HGSNAT gene HGSNAT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930 32770643 False 3 100;0;0 1.1566 True ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620 33762937 False 3 100;0;0 1.1566 True ENSG00000198130 ENSG00000198130 HGNC:4908 HINT1 gene HINT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200 False 3 100;0;0 1.1566 True ENSG00000169567 ENSG00000169567 HGNC:4912 HK1 gene HK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to hexokinase deficiency MIM#235700;Neuropathy, hereditary motor and sensory, Russe type, MIM#605285 33361148;12393545;38415930;7655856;31119733;27282571 False 3 0;0;0 1.1566 True ENSG00000156515 ENSG00000156515 HGNC:4922 HLCS gene HLCS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, 253270 (3) 16134170 False 3 100;0;0 1.1566 True ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, 246450 (3) False 3 0;0;0 1.1566 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, 605911 (3) False 3 0;0;0 1.1566 False ENSG00000134240 ENSG00000134240 HGNC:5008 HOXA1 gene HOXA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome, MIM#601536;Bosley-Salih-Alorainy syndrome, MIM#601536 18412118 False 3 100;0;0 1.1566 True ENSG00000105991 ENSG00000105991 HGNC:5099 HPD gene HPD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type III, 276710 (3) False 3 0;100;0 1.1566 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPGD gene HPGD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cranioosteoarthropathy, 259100 (3) 20406614;32282352;31878983;29282707 False 3 100;0;0 1.1566 True ENSG00000164120 ENSG00000164120 HGNC:5154 HPRT1 gene HPRT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, MIM#300322 20301328 False 3 100;0;0 1.1566 True ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, MIM#203300 8896559;9497254;9705234;27593200;31898847 False 3 100;0;0 1.1566 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3, 614072 (3) False 3 0;0;0 1.1566 False ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, MIM #614073 12664304;11836498 False 3 100;0;0 1.1566 True ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5, 614074 (3) False 3 100;0;0 1.1566 True ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, MIM# 614075 12548288;17041891 False 3 50;50;0 1.1566 True ENSG00000166189 ENSG00000166189 HGNC:18817 HPSE2 gene HPSE2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1 MIM#236730 25145936;23313374;33558177 False 3 100;0;0 1.1566 True ENSG00000172987 ENSG00000172987 HGNC:18374 HSD17B10 gene HSD17B10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females HSD10 mitochondrial disease, MIM#300438 38841322;22127393 False 3 100;0;0 1.1566 True ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515 (3) False 3 100;0;0 1.1566 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B2 gene HSD3B2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM#201810 33757164;1363812 False 3 100;0;0 1.1566 True ENSG00000203859 ENSG00000203859 HGNC:5218 HSD3B7 gene HSD3B7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1, 607765 (3) False 3 0;0;0 1.1566 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSPD1 gene HSPD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, 612233 (3) False 3 0;0;0 1.1566 False ENSG00000144381 ENSG00000144381 HGNC:5261 HSPG2 gene HSPG2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, MIM# 255800;Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410 37761893 False 3 100;0;0 1.1566 True ENSG00000142798 ENSG00000142798 HGNC:5273 HTRA2 gene HTRA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive 27208207;27696117 False 3 100;0;0 1.1566 True ENSG00000115317 ENSG00000115317 HGNC:14348 HUWE1 gene HUWE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590 29180823;7943042;27130160 False 3 100;0;0 1.1566 True ENSG00000086758 ENSG00000086758 HGNC:30892 HYDIN gene HYDIN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5, 608647 (3) 23022101;28441829;31116566 False 3 100;0;0 1.1566 True ENSG00000157423 ENSG00000157423 HGNC:19368 HYLS1 gene HYLS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, 236680 (3) False 3 0;0;0 1.1566 False ENSG00000198331 ENSG00000198331 HGNC:26558 IARS gene IARS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 False 3 100;0;0 1.1566 True ENSG00000196305 ENSG00000196305 HGNC:5330 IARS2 gene IARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007 30419932 False 3 100;0;0 1.1566 True ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000181873 ENSG00000181873 HGNC:27302 ICOS gene ICOS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 1, 607594 (3) 12577056;15507387;19380800;28861081;31858365;11343122;16982935;8438047 False 3 100;0;0 1.1566 True ENSG00000163600 ENSG00000163600 HGNC:5351 IDS gene IDS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II, MIM# 309900;Hunter syndrome, MONDO:0010674 20301451 False 3 100;0;0 1.1566 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih, 607014 (3) False 3 0;0;0 1.1566 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231 (3) False 3 0;0;0 1.1566 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFNGR1 gene IFNGR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3) False 3 100;0;0 1.1566 False ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis, MIM#614889 18625743;31497017 False 3 100;0;0 1.1566 True ENSG00000159128 ENSG00000159128 HGNC:5440 IFT122 gene IFT122 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, 218330 (3) 20817137;20493458;23826986;26792575;29220510;27681595 False 3 100;0;0 1.1566 True ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with of without polydactyly (MIM#266920) 22503633;23418020;28288023;28724397 False 3 100;0;0 1.1566 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3) False 3 0;0;0 1.1566 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT80 gene IFT80 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263;MONDO:0012644 17468754;19648123;30767363 False 3 100;0;0 1.1566 True ENSG00000068885 ENSG00000068885 HGNC:29262 IGF1R gene IGF1R Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, 270450 (3) False 3 0;0;0 1.1566 False ENSG00000140443 ENSG00000140443 HGNC:5465 IGHMBP2 gene IGHMBP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320;Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155 34785121;25439726 False 3 100;0;0 1.1566 True ENSG00000132740 ENSG00000132740 HGNC:5542 IKBKB gene IKBKB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 15, MIM#615592 24369075;25216719;24679846;32117824;2513935 False 3 100;0;0 1.1566 True ENSG00000104365 ENSG00000104365 HGNC:5960 IL10RA gene IL10RA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Early onset inflammatory bowel disease 28 (MIM# 613148) 19890111;21519361;22476154 False 3 100;0;0 1.1566 True ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review;Expert Review Green Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset, #MIM612657 22549091;19890111;21519361;35187668;31096038 False 3 100;0;0 1.1566 True ENSG00000243646 ENSG00000243646 HGNC:5965 IL11RA gene IL11RA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Craniosynostosis and dental anomalies, MIM#614188 29926465;24498618 False 3 100;0;0 1.1566 True ENSG00000137070 ENSG00000137070 HGNC:5967 IL12RB1 gene IL12RB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 30, MIM#614891 9603733;9603732;12591909;15736007;23864330 False 3 100;0;0 1.1566 True ENSG00000096996 ENSG00000096996 HGNC:5971 IL17RA gene IL17RA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 51, MIM #613953 21350122;27930337;34390440;26607704 False 3 100;0;0 1.1566 True ENSG00000177663 ENSG00000177663 HGNC:5985 IL1RAPL1 gene IL1RAPL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 21, MIM#300143 18801879;16470793;18005360;21484992;19012350 False 3 100;0;0 1.1566 True ENSG00000169306 ENSG00000169306 HGNC:5996 IL1RN gene IL1RN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, MIM# 612852;Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis, MIM# 61285 False 3 100;0;0 1.1566 True ENSG00000136689 ENSG00000136689 HGNC:6000 IL2RG gene IL2RG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe combined immunodeficiency, X-linked, 300400 (3) False 3 100;0;0 1.1566 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL7R gene IL7R Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency 104 MIM#608971 False 3 100;0;0 1.1566 True ENSG00000168685 ENSG00000168685 HGNC:6024 INPP5E gene INPP5E Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944;Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156;MONDO:0012423 19668216;32139166;29230161;29052317;27998989;27401686;19668215;34211432 False 3 100;0;0 1.1566 True ENSG00000148384 ENSG00000148384 HGNC:21474 INPP5K gene INPP5K Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000132376 ENSG00000132376 HGNC:33882 INPPL1 gene INPPL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Opsismodysplasia MIM #258480 23273569;23273567;34529350 False 3 100;0;0 1.1566 True ENSG00000165458 ENSG00000165458 HGNC:6080 INSR gene INSR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leprechaunism, 246200 (3) False 3 100;0;0 1.1566 False ENSG00000171105 ENSG00000171105 HGNC:6091 INVS gene INVS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, 602088 (3) False 3 0;0;0 1.1566 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254 (3) False 3 100;0;0 1.1566 False ENSG00000173226 ENSG00000173226 HGNC:28949 IQSEC2 gene IQSEC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked 1 MIM#309530" False 3 0;0;0 1.1566 False ENSG00000124313 ENSG00000124313 HGNC:29059 ISCA2 gene ISCA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, MIM #616370 25539947;29297947;29122497;29359243;32424628;39544370;29470032 False 3 100;0;0 1.1566 True ENSG00000165898 ENSG00000165898 HGNC:19857 ISPD gene ISPD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) 28688748;30060766;22522420 False 3 100;0;0 1.1566 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITCH gene ITCH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3) 20170897;31091003;32356405;9462731;9462742 False 3 50;50;0 1.1566 True ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA6 gene ITGA6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) 9158140;20301336;27607025;34525201;31502654 False 3 100;0;0 1.1566 True ENSG00000091409 ENSG00000091409 HGNC:6142 ITGB2 gene ITGB2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, 116920 (3) 1968911;1694220;33957747;32279896;31374327 False 3 100;0;0 1.1566 True ENSG00000160255 ENSG00000160255 HGNC:6155 ITGB4 gene ITGB4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) 32017015;11328943;30079450;29380424;29198538;28557647 False 3 100;0;0 1.1566 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITK gene ITK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 1, 613011 (3) False 3 0;0;0 1.1566 False ENSG00000113263 ENSG00000113263 HGNC:6171 ITPR1 gene ITPR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Gillespie syndrome, MIM#206700 27108797;31340402;30242502;29169895 False 3 100;0;0 1.1566 True ENSG00000150995 ENSG00000150995 HGNC:6180 IVD gene IVD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia, 243500 (3) False 3 0;0;0 1.1566 False ENSG00000128928 ENSG00000128928 HGNC:6186 JAGN1 gene JAGN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia 6, MIM# 616022 25129144;37528877 False 3 100;0;0 1.1566 True ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) 14615376;11668610;7481767;7481769;9354668;7659163;7481768;30032486;9753072 False 3 100;0;0 1.1566 True ENSG00000105639 ENSG00000105639 HGNC:6193 JAM3 gene JAM3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3) False 3 100;0;0 1.1566 False ENSG00000166086 ENSG00000166086 HGNC:15532 JUP gene JUP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Naxos disease MIM#601214 34587761 False 3 100;0;0 1.1566 True ENSG00000173801 ENSG00000173801 HGNC:6207 KATNB1 gene KATNB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, MIM#616212 25521378;25521379;26640080 False 3 100;0;0 1.1566 True ENSG00000140854 ENSG00000140854 HGNC:6217 KCNJ1 gene KCNJ1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, MIM#241200 False 3 100;0;0 1.1566 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal SESAME syndrome, MIM# 612780;EAST syndrome, MONDO:0013005 19289823;19420365;21849804;11466414;38979912 False 3 0;0;0 1.1566 True ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) 23345197;32252216;9356020 False 3 100;0;0 1.1566 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCNQ1 gene KCNQ1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome, 220400 (3) 29033053;28438721 False 3 67;33;0 1.1566 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNV2 gene KCNV2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinal cone dystrophy 3B, 610356 (3) False 3 0;0;0 1.1566 False ENSG00000168263 ENSG00000168263 HGNC:19698 KCTD7 gene KCTD7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3) 22748208;35921411 False 3 100;0;0 1.1566 True ENSG00000243335 ENSG00000243335 HGNC:21957 KDM5C gene KDM5C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) False 3 0;0;0 1.1566 False ENSG00000126012 ENSG00000126012 HGNC:11114 KIAA0586 gene KIAA0586 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly (MIM#616546);Joubert syndrome 23 (MIM#616490) 26386044;28125082;36580738;39063141 False 3 100;0;0 1.1566 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA1109 gene KIAA1109 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIF14 gene KIF14 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 20, primary, autosomal recessive, MIM #617914 29343805;28892560;24128419 False 3 100;0;0 1.1566 True ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1A gene KIF1A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 30, autosomal recessive, MIM#610357 22258533;21487076 False 3 100;0;0 1.1566 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF1BP gene KIF1BP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome, 609460 (3) 23427148;15883926 False 3 100;0;0 1.1566 True ENSG00000198954 ENSG00000198954 HGNC:23419 KIF1C gene KIF1C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, MIM#611302 24319291;17273843;24482476 False 3 100;0;0 1.1566 True ENSG00000129250 ENSG00000129250 HGNC:6317 KIF7 gene KIF7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome 2, 614120 (3) False 3 0;0;0 1.1566 False ENSG00000166813 ENSG00000166813 HGNC:30497 KLHL40 gene KLHL40 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, 615348 (3) False 3 100;0;0 1.1566 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, 615731 (3) 24268659;24268659;30986853;28939701;28826497 False 3 100;0;0 1.1566 True ENSG00000239474 ENSG00000239474 HGNC:16905 KLHL7 gene KLHL7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal PERCHING syndrome, MIM#617055 31953236;30300710;31856884 False 3 100;0;0 1.1566 True ENSG00000122550 ENSG00000122550 HGNC:15646 KNL1 gene KNL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 4, primary, autosomal recessive, MIM# 604321;MONDO:0011437 26626498;22983954;20598275;15806441;27149178 False 3 100;0;0 1.1566 True ENSG00000137812 ENSG00000137812 HGNC:24054 KPTN gene KPTN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 41 (MIM#615637) 24239382;32358097;32808430 False 3 100;0;0 1.1566 True ENSG00000118162 ENSG00000118162 HGNC:6404 KRT10 gene KRT10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707;MONDO:0700245 16505000 False 3 100;0;0 1.1566 True ENSG00000186395 ENSG00000186395 HGNC:6413 KRT14 gene KRT14 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001;MONDO:0010976 29024068 False 3 100;0;0 1.1566 True ENSG00000186847 ENSG00000186847 HGNC:6416 KRT5 gene KRT5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive, MIM#619599 31302245;31312705;34912369 False 3 100;0;0 1.1566 True ENSG00000186081 ENSG00000186081 HGNC:6442 KY gene KY Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 7 (MIM#617114) 27484770;27485408;30591934 False 3 100;0;0 1.1566 True ENSG00000174611 ENSG00000174611 HGNC:26576 L1CAM gene L1CAM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females MASA syndrome, 303350 (3) False 3 0;0;0 1.1566 False ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, MIM#236792 39262645;10399870 False 3 100;0;0 1.1566 True ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA1 gene LAMA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome, 615960 (3) False 3 0;0;0 1.1566 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA2 gene LAMA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855;Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 30055037 False 3 100;0;0 1.1566 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA3 gene LAMA3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) False 3 100;0;0 1.1566 False ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB1 gene LAMB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, 615191 (3) 23472759;25925986;29888467;25925986;32548278;34606115;32548278;34606115 False 3 100;0;0 1.1566 True ENSG00000091136 ENSG00000091136 HGNC:6486 LAMB2 gene LAMB2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, 609049 (3) False 3 0;0;0 1.1566 False ENSG00000172037 ENSG00000172037 HGNC:6487 LAMB3 gene LAMB3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) False 3 100;0;0 1.1566 False ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, Herlitz type, MIM#619785;Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786 False 3 100;0;0 1.1566 True ENSG00000058085 ENSG00000058085 HGNC:6493 LAMC3 gene LAMC3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cortical malformations, occipital, MIM #614115 34354730;21572413;29247375;26802095 False 3 100;0;0 1.1566 True ENSG00000050555 ENSG00000050555 HGNC:6494 LARGE1 gene LARGE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154 12966029;19067344;21248746;17436019;19299310 False 3 100;0;0 1.1566 True ENSG00000133424 ENSG00000133424 HGNC:6511 LARP7 gene LARP7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Alazami syndrome MIM#615071 22865833;21937992;30006060;33569879;36126956;37529055 False 3 100;0;0 1.1566 True ENSG00000174720 ENSG00000174720 HGNC:24912 LARS gene LARS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 22607940;30349989;28774368 False 3 100;0;0 1.1566 True ENSG00000133706 ENSG00000133706 HGNC:6512 LARS2 gene LARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, 615300 (3) False 3 0;0;0 1.1566 False ENSG00000011376 ENSG00000011376 HGNC:17095 LAT gene LAT Expert Review;Expert Review Green Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 52, MIM# 617514" 27353087;27522155;27242165;10204488 False 3 100;0;0 1.1566 True ENSG00000213658 ENSG00000213658 HGNC:18874 LBR gene LBR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Greenberg skeletal dysplasia MIM#215140;Regressive Spondylometaphyseal Dysplasia MIM#618019) 12618959;27604308;29068549;32304187 False 3 100;0;0 1.1566 True ENSG00000143815 ENSG00000143815 HGNC:6518 LCA5 gene LCA5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 5, MIM# 604537 10631161;12642313;17546029 False 3 100;0;0 1.1566 True ENSG00000135338 ENSG00000135338 HGNC:31923 LCAT gene LCAT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Norum disease, MIM#245900;Fish-eye disease, MIM# 136120 30720493;6624548;34256778 False 3 0;100;0 1.1566 True ENSG00000213398 ENSG00000213398 HGNC:6522 LDHA gene LDHA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI MIM#612933 36292720 False 3 100;0;0 1.1566 True ENSG00000134333 ENSG00000134333 HGNC:6535 LDLR gene LDLR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal LDL cholesterol level QTL2/Hypercholesterolemia, familial False 3 50;50;0 1.1566 True ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Familial hypercholesterolemia 4, MIM#603813 4351242 False 3 100;0;0 1.1566 True ENSG00000157978 ENSG00000157978 HGNC:18640 LEP gene LEP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin deficiency, MIM#614962 26567097;31483094 False 3 100;0;0 1.1566 True ENSG00000174697 ENSG00000174697 HGNC:6553 LGI4 gene LGI4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive 28318499;16341215;31513940 False 3 100;0;0 1.1566 True ENSG00000153902 ENSG00000153902 HGNC:18712 LHX3 gene LHX3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3, MIM# 221750 30759489 False 3 100;0;0 1.1566 True ENSG00000107187 ENSG00000107187 HGNC:6595 LIAS gene LIAS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperglycinaemia, lactic acidosis, and seizures MIM#614462 22152680;24334290;26108146 False 3 100;0;0 1.1566 True ENSG00000121897 ENSG00000121897 HGNC:16429 LIFR gene LIFR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) False 3 0;0;0 1.1566 False ENSG00000113594 ENSG00000113594 HGNC:6597 LIG4 gene LIG4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593;DNA ligase IV deficiency, MONDO:0011686 16088910;9823897;10911993;15333585;9809069;12023982;11040211;15175260;19451691;17554302 False 3 100;0;0 1.1566 True ENSG00000174405 ENSG00000174405 HGNC:6601 LINS1 gene LINS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 2, MIM#614340 34450347;21937992;32802957;32499722 False 3 100;0;0 1.1566 True ENSG00000140471 ENSG00000140471 HGNC:30922 LIPA gene LIPA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, 278000 (3) False 3 0;0;0 1.1566 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPC gene LIPC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hepatic lipase deficiency, 614025 (3) False 3 0;0;0 1.1566 False ENSG00000166035 ENSG00000166035 HGNC:6619 LIPT1 gene LIPT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency, 616299 (3) False 3 100;0;0 1.1566 False ENSG00000144182 ENSG00000144182 HGNC:29569 LMAN1 gene LMAN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined factor V and VIII deficiency, MIM#227300 23852824 False 3 100;0;0 1.1566 True ENSG00000074695 ENSG00000074695 HGNC:6631 LMBR1 gene LMBR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Acheiropody, 200500 (3) False 3 0;0;0 1.1566 False ENSG00000105983 ENSG00000105983 HGNC:13243 LMBRD1 gene LMBRD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380 19136951 False 3 100;0;0 1.1566 True ENSG00000168216 ENSG00000168216 HGNC:23038 LMNA gene LMNA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia, MIM# 248370 15148145;18551513;17377071 False 3 100;0;0 1.1566 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD3 gene LMOD3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, 616165 (3) False 3 100;0;0 1.1566 False ENSG00000163380 ENSG00000163380 HGNC:6649 LONP1 gene LONP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, 600373 (3) False 3 0;0;0 1.1566 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN1 gene LPIN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200 18817903;32549891 False 3 100;0;0 1.1566 True ENSG00000134324 ENSG00000134324 HGNC:13345 LPIN2 gene LPIN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Majeed syndrome MIM#609628 False 3 100;0;0 1.1566 True ENSG00000101577 ENSG00000101577 HGNC:14450 LPL gene LPL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lipoprotein lipase deficiency MIM#238600 False 3 100;0;0 1.1566 True ENSG00000175445 ENSG00000175445 HGNC:6677 LRAT gene LRAT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 14, 613341 (3) False 3 0;0;0 1.1566 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRBA gene LRBA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 22608502;22721650;25468195;26206937;33155142 False 3 100;0;0 1.1566 True ENSG00000198589 ENSG00000198589 HGNC:1742 LRIG2 gene LRIG2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 2, 615112 (3) False 3 0;0;0 1.1566 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRMDA gene LRMDA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VII, 615179 (3) False 3 0;0;0 1.1566 False ENSG00000148655 ENSG00000148655 HGNC:23405 LRP2 gene LRP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, 222448 (3) False 3 0;0;0 1.1566 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cenani-Lenz syndactyly syndrome, MIM #212780 23636941;20381006;23664847;30041615 False 3 100;0;0 1.1566 True ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteoporosis-pseudoglioma syndrome, 259770 (3) False 3 100;0;0 1.1566 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRPPRC gene LRPPRC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 12529507;12529507;26510951;21266382 False 3 100;0;0 1.1566 True ENSG00000138095 ENSG00000138095 HGNC:15714 LRRC6 gene LRRC6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935 (3) 23122589;23891469;32622824;29511670;38934611;33577779;39004944;31624012 False 3 100;0;0 1.1566 True ENSG00000129295 ENSG00000129295 HGNC:16725 LRSAM1 gene LRSAM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3) False 3 0;0;0 1.1566 False ENSG00000148356 ENSG00000148356 HGNC:25135 LTBP3 gene LTBP3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Tooth agenesis, selective, 6, 613097 (3) False 3 0;0;0 1.1566 False ENSG00000168056 ENSG00000168056 HGNC:6716 LTBP4 gene LTBP4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IC, 613177 (3) False 3 0;0;0 1.1566 False ENSG00000090006 ENSG00000090006 HGNC:6717 LYRM7 gene LYRM7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8, MIM#615838, Autosomal recessive 26912632;24014394 False 3 100;0;0 1.1566 True ENSG00000186687 ENSG00000186687 HGNC:28072 LYST gene LYST Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, 214500 (3) False 3 0;0;0 1.1566 False ENSG00000143669 ENSG00000143669 HGNC:1968 LZTFL1 gene LZTFL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 MIM#615994;MONDO:0014445 22510444;23692385;27312011;22072986;38801250;32686083;37239474 False 3 100;0;0 1.1566 True ENSG00000163818 ENSG00000163818 HGNC:6741 MALT1 gene MALT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 12, 615468 (3) False 3 100;0;0 1.1566 False ENSG00000172175 ENSG00000172175 HGNC:6819 MAN1B1 gene MAN1B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Rafiq syndrome, MIM# 614202 21763484;26279649;20345473 False 3 100;0;0 1.1566 True ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, 248500 (3) 20301570 False 3 100;0;0 1.1566 True ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM#248510 False 3 100;0;0 1.1566 True ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome, MIM# 300615 25807999;24169519;8503438;37750385 False 3 100;0;0 1.1566 True ENSG00000189221 ENSG00000189221 HGNC:6833 MAPKBP1 gene MAPKBP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20, 617271 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000137802 ENSG00000137802 HGNC:29536 MARS gene MARS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease, MIM#615486 24103465;25913036 False 3 100;0;0 1.1566 True ENSG00000166986 ENSG00000166986 HGNC:6898 MARS2 gene MARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 25;MIM #616430, MONDO:0014636;Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664 25754315;16672289;22448145;22448145;23250129 False 3 100;0;0 1.1566 True ENSG00000247626 ENSG00000247626 HGNC:25133 MASP1 gene MASP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1, MIM# 257920 26789649;21258343;21035106;16096999 False 3 100;0;0 1.1566 True ENSG00000127241 ENSG00000127241 HGNC:6901 MBOAT7 gene MBOAT7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 57, MIM #617188 23097495;27616480;33335874;32645526;32744787;31852446;31282596;30701556 False 3 100;0;0 1.1566 True ENSG00000125505 ENSG00000125505 HGNC:15505 MBTPS2 gene MBTPS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome with or without BRESHECK syndrome, 308205 (3) False 3 0;0;0 1.1566 False ENSG00000012174 ENSG00000012174 HGNC:15455 MC2R gene MC2R Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200 38796770;8094489;8227361;35506146 False 3 100;0;0 1.1566 True ENSG00000185231 ENSG00000185231 HGNC:6930 MCFD2 gene MCFD2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Factor V and factor VIII, combined deficiency of, 613625 (3) False 3 0;100;0 1.1566 False ENSG00000180398 ENSG00000180398 HGNC:18451 MCOLN1 gene MCOLN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV MIM#252650 33963976;32604955 False 3 100;0;0 1.1566 True ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, MIM#251200 20978018;30351297;29026105 False 3 100;0;0 1.1566 True ENSG00000147316 ENSG00000147316 HGNC:6954 MECP2 gene MECP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Encephalopathy, neonatal severe MIM#300673;Intellectual developmental disorder, X-linked syndromic 13 MIM#300055;Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260 11402105;10577905;11071498;16647997;10508514;31206249;10986043;11807877 False 3 100;0;0 1.1566 True ENSG00000169057 ENSG00000169057 HGNC:6990 MED12 gene MED12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lujan-Fryns syndrome, 309520 (3) False 3 0;0;0 1.1566 False ENSG00000184634 ENSG00000184634 HGNC:11957 MED17 gene MED17 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 30345598;33756211;20950787 False 3 100;0;0 1.1566 True ENSG00000042429 ENSG00000042429 HGNC:2375 MED23 gene MED23 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy MIM#614249 21868677;25845469;27311965;27457812;30847200;31164858 False 3 100;0;0 1.1566 True ENSG00000112282 ENSG00000112282 HGNC:2372 MED25 gene MED25 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449;congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0014643 25792360;32816121;25527630;30800049;32324310;19290556 False 3 100;0;0 1.1566 True ENSG00000104973 ENSG00000104973 HGNC:28845 MEGF10 gene MEGF10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3) False 3 0;0;0 1.1566 False ENSG00000145794 ENSG00000145794 HGNC:29634 MEGF8 gene MEGF8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome 2, 614976 (3) 23063620;38760421 False 3 0;0;0 1.1566 True ENSG00000105429 ENSG00000105429 HGNC:3233 MERTK gene MERTK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 38, MIM#613862 11062461;17301963;20300561;22180149 False 3 100;0;0 1.1566 True ENSG00000153208 ENSG00000153208 HGNC:7027 MESP2 gene MESP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, MIM #608681 18485326;15122512;20301771 False 3 100;0;0 1.1566 True ENSG00000188095 ENSG00000188095 HGNC:29659 METTL23 gene METTL23 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 44, 615942 (3) False 3 0;0;0 1.1566 False ENSG00000181038 ENSG00000181038 HGNC:26988 MFN2 gene MFN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD2A gene MFSD2A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalities MIM#616486 30043326;32572202;26005865;26005868 False 3 100;0;0 1.1566 True ENSG00000168389 ENSG00000168389 HGNC:25897 MFSD8 gene MFSD8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 17564970;19201763;25227500;30382371;35154277 False 3 100;0;0 1.1566 True ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, 212066 (3) False 3 100;0;0 1.1566 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11, MIM#615084 False 3 100;0;0 1.1566 True ENSG00000125871 ENSG00000125871 HGNC:16205 MGP gene MGP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Keutel syndrome, 245150 (3) 37675773 False 3 100;0;0 1.1566 True ENSG00000111341 ENSG00000111341 HGNC:7060 MICU1 gene MICU1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, 615673 (3) False 3 0;0;0 1.1566 False ENSG00000107745 ENSG00000107745 HGNC:1530 MID1 gene MID1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Opitz GBBB syndrome MIM#300000;MONDO:0017138 20301502;9354791 False 3 100;0;0 1.1566 True ENSG00000101871 ENSG00000101871 HGNC:7095 MKKS gene MKKS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6 MIM#605231;McKusick-Kaufman syndrome MIM#236700;MKKS-related ciliopathy MONDO:1040050 10973238;10973251;12107442;20472660;15770229;20177705;28761321;30718709 False 3 100;0;0 1.1566 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 1, 249000 (3) False 3 0;0;0 1.1566 False ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) False 3 0;0;0 1.1566 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, MIM#248360 False 3 100;0;0 1.1566 True ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 False 3 100;0;0 1.1566 True ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) False 3 100;0;0 1.1566 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 20301503 False 3 100;0;0 1.1566 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) 18385497;33552904 False 3 0;0;0 1.1566 True ENSG00000168288 ENSG00000168288 HGNC:25221 MMP2 gene MMP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3) False 3 0;0;0 1.1566 False ENSG00000087245 ENSG00000087245 HGNC:7166 MMP21 gene MMP21 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 7, autosomal MIM#616749;MONDO:0014762 26429889;26437028;26437029;36123719;33240936 False 3 100;0;0 1.1566 True ENSG00000154485 ENSG00000154485 HGNC:14357 MOCS1 gene MOCS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A, MIM#252150 27604308;9731530 False 3 100;0;0 1.1566 True ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B, 252160 (3) 10053004;31848698;16021469;30900395 False 3 100;0;0 1.1566 True ENSG00000164172 ENSG00000164172 HGNC:7193 MPDZ gene MPDZ Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219 False 3 100;0;0 1.1566 True ENSG00000107186 ENSG00000107186 HGNC:7208 MPI gene MPI Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579 32266963;19101627;12414827;9585601;10980531;33098580;33204592;32905087;30242110 False 3 100;0;0 1.1566 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPL gene MPL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, congenital amegakaryocytic, 604498 (3) 17054430;16351641;11133753 False 3 100;0;0 1.1566 True ENSG00000117400 ENSG00000117400 HGNC:7217 MPLKIP gene MPLKIP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, 234050 (3) False 3 100;0;0 1.1566 False ENSG00000168303 ENSG00000168303 HGNC:16002 MPV17 gene MPV17 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810 22508010;26437932;30298599 False 3 100;0;0 1.1566 True ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dejerine-Sottas disease, 145900 (3) 30239779;8816708;12845552;16488608;26310628;8630052 False 3 50;50;0 1.1566 True ENSG00000158887 ENSG00000158887 HGNC:7225 MRAP gene MRAP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 2, MIM #607398 15654338;34271604;38796770;36777708;30817990 False 3 100;0;0 1.1566 True ENSG00000170262 ENSG00000170262 HGNC:1304 MRE11 gene MRE11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder, 604391 (3) 10612394;11371508;15269180;22863007;24332946;21227757 False 3 100;0;0 1.1566 True ENSG00000020922 ENSG00000020922 HGNC:7230 MSTO1 gene MSTO1 Expert Review;Expert Review Green Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, MIM#617675 30684668;31463572 False 3 0;0;0 1.1566 False ENSG00000125459 ENSG00000125459 HGNC:29678 MTFMT gene MTFMT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leigh Syndrome MONDO:0009723 21907147;23499752;24461907;22499348;30911575 False 3 100;0;0 1.1566 True ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFD1 gene MTHFD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000100714 ENSG00000100714 HGNC:7432 MTHFR gene MTHFR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, MIM# 236250 25024447;8456826 False 3 100;0;0 1.1566 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTM1 gene MTM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, centronuclear, X-linked MIM#310400 10790201;8640223, 27017278, 26938784, 15725586, 30232666;37176116;32805447;31541013 False 3 100;0;0 1.1566 True ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR2 gene MTMR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, MIM#601382 False 3 100;0;0 1.1566 True ENSG00000087053 ENSG00000087053 HGNC:7450 MTO1 gene MTO1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, MIM#614702 26061759;29331171;23929671 False 3 100;0;0 1.1566 True ENSG00000135297 ENSG00000135297 HGNC:19261 MTR gene MTR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 8968736;8968737;9683607;12068375 False 3 100;0;0 1.1566 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cbl E type, MIM #236270 20301503;12555939;15714522;9501215 False 3 100;0;0 1.1566 True ENSG00000124275 ENSG00000124275 HGNC:7473 MTTP gene MTTP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100 (3) False 3 0;0;0 1.1566 False ENSG00000138823 ENSG00000138823 HGNC:7467 MUSK gene MUSK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) False 3 0;0;0 1.1566 False ENSG00000030304 ENSG00000030304 HGNC:7525 MUT gene MUT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type, MIM# 251000 False 3 100;0;0 1.1566 True ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, MIM#610377;Hyper-IgD syndrome, MIM#260920 27012807;16722536 False 3 100;0;0 1.1566 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYD88 gene MYD88 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3) False 3 0;0;0 1.1566 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYMK gene MYMK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome, MIM#254940 28681861 False 3 100;0;0 1.1566 True ENSG00000187616 ENSG00000187616 HGNC:33778 MYO5B gene MYO5B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 10, MIM#619868;Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850 30564347;29266534;27532546 False 3 100;0;0 1.1566 True ENSG00000167306 ENSG00000167306 HGNC:7603 MYO7A gene MYO7A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1B, MIM# 276900 29400105;8160750 False 3 100;0;0 1.1566 True ENSG00000137474 ENSG00000137474 HGNC:7606 NAA10 gene NAA10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ogden syndrome (MIM#300855);Syndromic microphthalmia 1 (MIM#309800) 26522270;34200686;37130971;30842225;24431331;34075687 False 3 100;0;0 1.1566 True ENSG00000102030 ENSG00000102030 HGNC:18704 NAGA gene NAGA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I, 609241 (3) False 3 0;0;0 1.1566 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920 25818867;8650226;14518829;18392742;11668611 False 3 100;0;0 1.1566 True ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency MIM#237310 12594532;17421020;12459178;12754705;9877039 False 3 100;0;0 1.1566 True ENSG00000161653 ENSG00000161653 HGNC:17996 NALCN gene NALCN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) 23749988;24075186;3016785 False 3 100;0;0 1.1566 True ENSG00000102452 ENSG00000102452 HGNC:19082 NANS gene NANS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Camera-Genevieve type (MIM#610442) 8152878;15726110;8723082;27213289;7551156 False 3 100;0;0 1.1566 True ENSG00000095380 ENSG00000095380 HGNC:19237 NARS2 gene NARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24 - MIM#616239, MONDO:0014547 25385316;25807530;30327238;28077841;36252909;33596490;38310242 False 3 100;0;0 1.1566 True ENSG00000137513 ENSG00000137513 HGNC:26274 NAXE gene NAXE Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive False 3 100;0;0 1.1566 False ENSG00000163382 ENSG00000163382 HGNC:18453 NBAS gene NBAS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800;Infantile liver failure syndrome 2, MIM#616483 20577004;26073778;31761904 False 3 100;0;0 1.1566 True ENSG00000151779 ENSG00000151779 HGNC:15625 NBN gene NBN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM#251260 33488600;33082212 False 3 100;0;0 1.1566 True ENSG00000104320 ENSG00000104320 HGNC:7652 NCF2 gene NCF2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3) False 3 0;0;0 1.1566 False ENSG00000116701 ENSG00000116701 HGNC:7661 NDE1 gene NDE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), 614019 (3) False 3 0;0;0 1.1566 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDP gene NDP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, 310600 (3) False 3 0;0;0 1.1566 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDRG1 gene NDRG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4D MIM#601455 False 3 100;0;0 1.1566 True ENSG00000104419 ENSG00000104419 HGNC:7679 NDUFA1 gene NDUFA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial complex I deficiency, nuclear type 12 MIM#301020 False 3 100;0;0 1.1566 True ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 21150889;26741492;28247337 False 3 100;0;0 1.1566 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFAF2 gene NDUFAF2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 38419071 False 3 100;0;0 1.1566 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF5 gene NDUFAF5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16 MIM#618238 False 3 100;0;0 1.1566 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723;Mitochondrial complex I deficiency, nuclear type 17 MIM#618239 30642748;18614015;30642748;29531337;27623250;28639102;31967322;32020600;22019594;25613900;26741492;35664867 False 3 100;0;0 1.1566 True ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFS1 gene NDUFS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 (3) False 3 100;0;0 1.1566 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, MIM #618228 31411514;22036843;20819849;11220739;23266820;31411514 False 3 100;0;0 1.1566 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS4 gene NDUFS4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000 (3) False 3 0;0;0 1.1566 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232) 15372108;19259137;30948790 False 3 100;0;0 1.1566 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 17604671;17275378;10360771;22644603 False 3 100;0;0 1.1566 True ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222) 23430795;36101822 False 3 100;0;0 1.1566 True ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 34807224 False 3 100;0;0 1.1566 True ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 (3) False 3 0;0;0 1.1566 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEB gene NEB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive (MIM#256030);Arthrogryposis multiplex congenita 6 (MIM#619334) 27228465 False 3 50;50;0 1.1566 True ENSG00000183091 ENSG00000183091 HGNC:7720 NECTIN1 gene NECTIN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3) 25913853;10932188;26953873 False 3 0;0;0 1.1566 True ENSG00000110400 ENSG00000110400 HGNC:9706 NEK1 gene NEK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#263520 21211617;22499340;25492405;28123176 False 3 100;0;0 1.1566 True ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive False 3 100;0;0 1.1566 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, MIM #256550;Sialidosis, type II, MIM #256550 11063730;8985184;9054950;39194692 False 3 100;0;0 1.1566 True ENSG00000204386 ENSG00000204386 HGNC:7758 NEXMIF gene NEXMIF Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked 98, MIM #300912 27358180;33144681 False 3 100;0;0 1.1566 True ENSG00000050030 ENSG00000050030 HGNC:29433 NFU1 gene NFU1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, MIM#605711 21944046;22077971;32747156;29441221;36256512 False 3 100;0;0 1.1566 True ENSG00000169599 ENSG00000169599 HGNC:16287 NGF gene NGF Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type V, 608654 (3) 14976160;20978020;33884296;32693191;31685654;30296891 False 3 100;0;0 1.1566 True ENSG00000134259 ENSG00000134259 HGNC:7808 NGLY1 gene NGLY1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, 615273 (3) 24651605;27388694 False 3 100;0;0 1.1566 True ENSG00000151092 ENSG00000151092 HGNC:17646 NHEJ1 gene NHEJ1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 16439204;16439205;37703920 False 3 100;0;0 1.1566 True ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC1 gene NHLRC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 2, MIM# 620681 21505799;12958597;18256682 False 3 100;0;0 1.1566 True ENSG00000187566 ENSG00000187566 HGNC:21576 NHS gene NHS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cataract 40, X-linked, 302200 (3) False 3 100;0;0 1.1566 False ENSG00000188158 ENSG00000188158 HGNC:7820 NIPAL4 gene NIPAL4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6, 612281 (3) False 3 100;0;0 1.1566 False ENSG00000172548 ENSG00000172548 HGNC:28018 NKX3-2 gene NKX3-2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive 20004766;29704686 False 3 100;0;0 1.1566 True ENSG00000109705 ENSG00000109705 HGNC:951 NKX6-2 gene NKX6-2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560 28575651;15601927;32246862;32004679;30285346 False 3 100;0;0 1.1566 True ENSG00000148826 ENSG00000148826 HGNC:19321 NMNAT1 gene NMNAT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 9, MIM#608553 32533184;33668384;22842230;22842229 False 3 100;0;0 1.1566 True ENSG00000173614 ENSG00000173614 HGNC:17877 NNT gene NNT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736;MONDO:0013874 37352919;26548497;22634753;23474776;25879317;26070314;27129361 False 3 100;0;0 1.1566 True ENSG00000112992 ENSG00000112992 HGNC:7863 NPC1 gene NPC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1, MIM#257220 26910362;11333381 False 3 100;0;0 1.1566 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, MIM#607625 29625568;17470133 False 3 100;0;0 1.1566 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 1, juvenile MIM#256100;Joubert syndrome 4 MIM#609583;Senior-Loken syndrome-1 MIM#266900 False 3 100;0;0 1.1566 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1 MIM#208540;Meckel syndrome 7 MIM#267010;Nephronophthisis 3 MIM#604387 False 3 100;0;0 1.1566 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4 MONDO:0011752;Nephronophthisis 4 MIM#606966;Senior-Loken syndrome 4 MIM#606996 12244321;12205563;34013113;23354436;1577426;23188109;23559409 False 3 100;0;0 1.1566 True ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1, MIM# 256300 32467597;10972661 False 3 100;0;0 1.1566 True ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2, 600995 (3) False 3 100;0;0 1.1566 False ENSG00000116218 ENSG00000116218 HGNC:13394 NPR2 gene NPR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia, Maroteaux type, 602875 (3) 15146390 False 3 100;0;0 1.1566 True ENSG00000159899 ENSG00000159899 HGNC:7944 NR0B1 gene NR0B1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY sex reversal 2, dosage-sensitive, 300018 (3) False 3 0;0;0 1.1566 False ENSG00000169297 ENSG00000169297 HGNC:7960 NSDHL gene NSDHL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome, MIM#300831 19842190;21129721;34091503;23042573 False 3 100;0;0 1.1566 True ENSG00000147383 ENSG00000147383 HGNC:13398 NSUN2 gene NSUN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 5, 611091 (3) False 3 0;0;0 1.1566 False ENSG00000037474 ENSG00000037474 HGNC:25994 NT5C2 gene NT5C2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, 613162 (3) False 3 0;0;0 1.1566 False ENSG00000076685 ENSG00000076685 HGNC:8022 NTRK1 gene NTRK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Insensitivity to pain, congenital, with anhidrosis MIM#256800 10233776;19250380;10861667;10982191;20301726;20089052 False 3 100;0;0 1.1566 True ENSG00000198400 ENSG00000198400 HGNC:8031 NUBPL gene NUBPL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010 (3) False 3 0;0;0 1.1566 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUP107 gene NUP107 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP93 gene NUP93 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12 MIM#616892 26878725;26878725;33578576;30741391;37762751;38650033;37692026;37845138 False 3 100;0;0 1.1566 True ENSG00000102900 ENSG00000102900 HGNC:28958 NYX gene NYX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500 False 3 100;0;0 1.1566 False ENSG00000188937 ENSG00000188937 HGNC:8082 OBSL1 gene OBSL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2, 612921 (3) 21737058;19481195;23018678;19877176 False 3 100;0;0 1.1566 True ENSG00000124006 ENSG00000124006 HGNC:29092 OCLN gene OCLN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 1, MIM#251290 20727516 False 3 100;0;0 1.1566 True ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2 MIM#300555;Lowe syndrome MIM#309000 9199559;15627218;27625797 False 3 100;0;0 1.1566 True ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Joubert syndrome 10, 300804 (3) False 3 100;0;0 1.1566 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Behr syndrome, 210000 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III MIM#258501;3-methylglutaconic aciduria type 3 MONDO:0009787 31928268;39166438;11668429 False 3 100;0;0 1.1566 True ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) False 3 100;0;0 1.1566 False ENSG00000079482 ENSG00000079482 HGNC:8148 ORAI1 gene ORAI1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9, 612782 (3) False 3 100;0;0 1.1566 False ENSG00000182500 ENSG00000276045 HGNC:25896 ORC1 gene ORC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, 224690 (3) 21358633;21358632;21358631;23023959 False 3 100;0;0 1.1566 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC6 gene ORC6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, 613803 (3) False 3 100;0;0 1.1566 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSGEP gene OSGEP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000092094 ENSG00000092094 HGNC:18028 OSTM1 gene OSTM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5, 259720 (3) False 3 0;0;0 1.1566 False ENSG00000081087 ENSG00000081087 HGNC:21652 OTC gene OTC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ornithine transcarbamylase deficiency, 311250 (3) False 3 0;0;0 1.1566 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTUD6B gene OTUD6B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000155100 ENSG00000155100 HGNC:24281 P3H1 gene P3H1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII, 610915 (3) False 3 100;0;0 1.1566 False ENSG00000117385 ENSG00000117385 HGNC:19316 PAH gene PAH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, 261600 (3) False 3 0;0;0 1.1566 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAK3 gene PAK3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 30/47, 300558 (3) False 3 0;0;0 1.1566 False ENSG00000077264 ENSG00000077264 HGNC:8592 PANK2 gene PANK2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, MIM#234200 15911822 False 3 100;0;0 1.1566 True ENSG00000125779 ENSG00000125779 HGNC:15894 PAPSS2 gene PAPSS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes, MIM#612847 22791835;25594860;31461705;23633440 False 3 100;0;0 1.1566 True ENSG00000198682 ENSG00000198682 HGNC:8604 PC gene PC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency (MIM#266150) 9585612;12112657;20301764 False 3 100;0;0 1.1566 True ENSG00000173599 ENSG00000173599 HGNC:8636 PCCA gene PCCA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Propionicacidemia, 606054 (3) False 3 0;0;0 1.1566 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Propionicacidemia MIM#606054;propionic acidemia MONDO:0011628 7386459;9683601;10502773;35296328 False 3 100;0;0 1.1566 True ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diencephalic-mesencephalic junction dysplasia syndrome 1 (MIM# 251280) 27164683;30178464 False 3 100;0;0 1.1566 True ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH15 gene PCDH15 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1F, 602083 (3) False 3 0;0;0 1.1566 False ENSG00000150275 ENSG00000150275 HGNC:14674 PCDH19 gene PCDH19 Expert Review Green;Literature Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Developmental and epileptic encephalopathy 9 (MIM#300088) 30287595;18469813 False 3 50;50;0 1.1566 True ENSG00000165194 ENSG00000165194 HGNC:14270 PCNT gene PCNT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720;MONDO:0008872 18174396;12210304;30922925;33460028;32557621;32267100 False 3 100;0;0 1.1566 True ENSG00000160299 ENSG00000160299 HGNC:16068 PCSK1 gene PCSK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing, 600955 (3) False 3 0;0;0 1.1566 False ENSG00000175426 ENSG00000175426 HGNC:8743 PCYT1A gene PCYT1A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia with cone-rod dystrophy MIM#608940 28272537;24387990;24387991;24889630 False 3 100;0;0 1.1566 True ENSG00000161217 ENSG00000161217 HGNC:8754 PDE6C gene PDE6C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cone dystrophy 4, 613093 (3) 33001157;34720973 False 3 100;0;0 1.1566 True ENSG00000095464 ENSG00000095464 HGNC:8787 PDHA1 gene PDHA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) 22142326;28584645 False 3 67;33;0 1.1566 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, MIM#614111 15138885;18164639;26865159;19924563;34138529 False 3 100;0;0 1.1566 True ENSG00000168291 ENSG00000168291 HGNC:8808 PDP1 gene PDP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782 (3) False 3 0;0;0 1.1566 False ENSG00000164951 ENSG00000164951 HGNC:9279 PEPD gene PEPD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, 170100 (3) False 3 0;0;0 1.1566 False ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 (3) False 3 0;0;0 1.1566 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger), MIM#214100 20301621;9398847;17055079 False 3 100;0;0 1.1566 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870;Peroxisome biogenesis disorder 6B MIM#614871 10862081;21031596;30640048 False 3 100;0;0 1.1566 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B MIM#614920 20301621;22581968;31724321;38423277;39092477;28129423;33558817 False 3 100;0;0 1.1566 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger), 614859 False 3 100;0;0 1.1566 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger), 614883 False 3 100;0;0 1.1566 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX16 gene PEX16 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876;Peroxisome biogenesis disorder 8B MIM#614877 11890679;9837814;20647552;20301621;30078639 False 3 100;0;0 1.1566 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX2 gene PEX2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger), MIM#614866;Peroxisome biogenesis disorder 5B, MIM#614867 14630978;10528859;23430938;1546315 False 3 100;0;0 1.1566 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) - MIM#614872, MONDO:0013938;Peroxisome biogenesis disorder 7B - MIM#614873, MONDO:0013939 12717447;15858711;17336976 False 3 100;0;0 1.1566 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882;Peroxisome biogenesis disorder 10B MIM#617370;Peroxisome biogenesis disorder due to PEX3 defect MONDO:0100261 20301621 False 3 100;0;0 1.1566 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), 214110 False 3 0;0;0 1.1566 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), 614862 False 3 0;0;0 1.1566 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) False 3 0;0;0 1.1566 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, 232800 (3) False 3 100;0;0 1.1566 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAP1 gene PGAP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000197121 ENSG00000197121 HGNC:25712 PGAP2 gene PGAP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 23561846;23561847;31805394;29119105;27871432 False 3 100;0;0 1.1566 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 24439110;29620724;30345601;30217754 False 3 100;0;0 1.1566 True ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, 300653 (3) 22348148;16567715;28580215;30887539 False 3 100;0;0 1.1566 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It, 614921 (3) 24499211;33342467 False 3 100;0;0 1.1566 True ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, 615816 (3) 31231132;33098103 False 3 100;0;0 1.1566 True ENSG00000013375 ENSG00000013375 HGNC:8907 PHF6 gene PHF6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, 301900 (3) False 3 0;0;0 1.1566 False ENSG00000156531 ENSG00000156531 HGNC:18145 PHF8 gene PHF8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Siderius type, MIM#300263 35469323;10398231;18498374;16199551;17661819 False 3 100;0;0 1.1566 True ENSG00000172943 ENSG00000172943 HGNC:20672 PHGDH gene PHGDH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 MIM#256520;Phosphoglycerate dehydrogenase deficiency MIM#601815 39638571;37964427;24836451;25152457;11055895;19235232 False 3 100;0;0 1.1566 True ENSG00000092621 ENSG00000092621 HGNC:8923 PHYH gene PHYH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Refsum disease MIM#266500 20301527;9326939;9326940 False 3 100;0;0 1.1566 True ENSG00000107537 ENSG00000107537 HGNC:8940 PIBF1 gene PIBF1 Expert Review Green;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33 (MIM#617767) 29695797;33004012;30858804;26167768 False 3 50;50;0 1.1566 True ENSG00000083535 ENSG00000083535 HGNC:23352 PIEZO2 gene PIEZO2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, distal, with impaired proprioception and touch, MIM#617146 27653382;27843126;27912047;27974811 False 3 100;0;0 1.1566 True ENSG00000154864 ENSG00000154864 HGNC:26270 PIGA gene PIGA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868;Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072 32452540 False 3 0;0;0 1.1566 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGG gene PIGG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917" 26996948 False 3 100;0;0 1.1566 True ENSG00000174227 ENSG00000174227 HGNC:25985 PIGL gene PIGL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, MIM# 280000, MONDO:0010221 22444671;31535386;30023290;29473937;28371479;25706356 False 3 100;0;0 1.1566 True ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) False 3 0;0;0 1.1566 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with impaired intellectual development syndrome 2, MIM#614749 22683086;24417746;27177984;28337824;37927489 False 3 100;0;0 1.1566 True ENSG00000165282 ENSG00000165282 HGNC:23215 PIGT gene PIGT Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165 30976099;25943031;24906948;24906948;24906948;28728837;28728837;28728837 False 3 100;0;0 1.1566 True ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 21739589;20080219;29310717;20802478;22228761 False 3 100;0;0 1.1566 True ENSG00000060642 ENSG00000060642 HGNC:26031 PIH1D3 gene PIH1D3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliary dyskinesia, primary, 36, X-linked, MIM #300991 28176794;28041644;20301301 False 3 100;0;0 1.1566 True ENSG00000080572 ENSG00000080572 HGNC:28570 PKHD1 gene PKHD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease MIM#263200 28375157;21945273 False 3 100;0;0 1.1566 True ENSG00000170927 ENSG00000170927 HGNC:9016 PKLR gene PKLR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency, MIM#266200 1896471;9160692;9057665;16704447;9090535;32702739 False 3 100;0;0 1.1566 True ENSG00000143627 ENSG00000143627 HGNC:9020 PLA2G6 gene PLA2G6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 2B MIM#610217;Infantile neuroaxonal dystrophy 1 MIM#256600 35803092 False 3 100;0;0 1.1566 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLCE1 gene PLCE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3, 610725 (3) False 3 0;0;0 1.1566 False ENSG00000138193 ENSG00000138193 HGNC:17175 PLEC gene PLEC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa simplex with pyloric atresia, 612138 (3) False 3 0;0;0 1.1566 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLG gene PLG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, 217090 (3) 9242524;35244080 False 3 50;50;0 1.1566 True ENSG00000122194 ENSG00000122194 HGNC:9071 PLOD1 gene PLOD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, type VI, 225400 (3) False 3 0;0;0 1.1566 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2, MIM#609220 22689593;12881513;33664768;33778323;29178448 False 3 100;0;0 1.1566 True ENSG00000152952 ENSG00000152952 HGNC:9082 PLP1 gene PLP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease MIM#312080, Pelizeaus-Merzbacher spectrum disorder MONDO:0010714;Spastic paraplegia 2, X-linked MIM#312920, hereditary spastic paraplegia 2 MONDO:0010733 20301361;22343157;24095575 False 3 100;0;0 1.1566 True ENSG00000123560 ENSG00000123560 HGNC:9086 PLPBP gene PLPBP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive 30668673;31741821 False 3 100;0;0 1.1566 True ENSG00000147471 ENSG00000147471 HGNC:9457 PMM2 gene PMM2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, 212065 (3) 20301289 False 3 100;0;0 1.1566 True ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia 2, MIM#213200 25808372;26657514;33272776;30617178 False 3 100;0;0 1.1566 True ENSG00000165688 ENSG00000165688 HGNC:18667 PNKP gene PNKP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 2B2 MIM#605589;Ataxia-oculomotor apraxia 4 MIM#616267;Microcephaly, seizures, and developmental delay MIM#613402 31436889;31707899;20118933;23224214;29243230;2578773;27066567 False 3 100;0;0 1.1566 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNP gene PNP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3) False 3 0;0;0 1.1566 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA6 gene PNPLA6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Boucher-Neuhauser syndrome, 215470 (3) False 3 0;0;0 1.1566 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPO gene PNPO Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) 34769443;33981986;33748042;32888189;24658933;15772097;31261385;31616300;31759955 False 3 100;0;0 1.1566 True ENSG00000108439 ENSG00000108439 HGNC:30260 POC1A gene POC1A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3) False 3 0;0;0 1.1566 False ENSG00000164087 ENSG00000164087 HGNC:24488 POLG gene POLG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) False 3 0;0;0 1.1566 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLR1C gene POLR1C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 11 MIM#616494;Treacher Collins syndrome 3 MIM#248390 26151409;21131976;30957429;32042905 False 3 100;0;0 1.1566 True ENSG00000171453 ENSG00000171453 HGNC:20194 POLR3A gene POLR3A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3) False 3 0;0;0 1.1566 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) False 3 0;0;0 1.1566 False ENSG00000013503 ENSG00000013503 HGNC:30348 POMC gene POMC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734 34177811 False 3 100;0;0 1.1566 True ENSG00000115138 ENSG00000115138 HGNC:9201 POMGNT1 gene POMGNT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157 27391550;26908613;30961548;30937090 False 3 100;0;0 1.1566 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135;Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135 34301702 False 3 100;0;0 1.1566 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3) False 3 100;0;0 1.1566 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMP gene POMP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3) 32425927 False 3 100;0;0 1.1566 True ENSG00000132963 ENSG00000132963 HGNC:20330 POMT1 gene POMT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy caused by variation in POMT1 MONDO:0700070 15792865;22549409;31311558;20065251;25088310;19299310;19299310 False 3 100;0;0 1.1566 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) False 3 0;0;0 1.1566 False ENSG00000009830 ENSG00000009830 HGNC:19743 POP1 gene POP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Anauxetic dysplasia 2, MIM#617396 27380734;28067412 False 3 100;0;0 1.1566 True ENSG00000104356 ENSG00000104356 HGNC:30129 POR gene POR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) 27604308;20301592;35842891 False 3 100;0;0 1.1566 True ENSG00000127948 ENSG00000127948 HGNC:9208 POU1F1 gene POU1F1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, MIM#613038 1472057;15928241;7593413 False 3 100;0;0 1.1566 True ENSG00000064835 ENSG00000064835 HGNC:9210 PPA2 gene PPA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPIB gene PPIB Expert Review;Expert Review Green Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX, #259440 False 3 0;0;0 1.1566 False ENSG00000166794 ENSG00000166794 HGNC:9255 PPT1 gene PPT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, 256730 (3) False 3 0;0;0 1.1566 False ENSG00000131238 ENSG00000131238 HGNC:9325 PQBP1 gene PQBP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, 309500 (3) 31840929;14634649;20410308;19661183 False 3 100;0;0 1.1566 True ENSG00000102103 ENSG00000102103 HGNC:9330 PRDM12 gene PRDM12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRDM5 gene PRDM5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 2, MIM#614170 14679583;22122778;21664999;8458232;28306229 False 3 100;0;0 1.1566 True ENSG00000138738 ENSG00000138738 HGNC:9349 PRF1 gene PRF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 19595804;26199792;30070073;19487666;26184781;10583959;19487666 False 3 100;0;0 1.1566 True ENSG00000180644 ENSG00000180644 HGNC:9360 PRG4 gene PRG4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) 10545950;29397575 False 3 100;0;0 1.1566 True ENSG00000116690 ENSG00000116690 HGNC:9364 PRICKLE1 gene PRICKLE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, 612437 (3) False 3 0;0;100 1.1566 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRKRA gene PRKRA Expert Review;Expert Review Green Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dystonia 16, MIM#612067 25142429;29279192 False 3 67;33;0 1.1566 True ENSG00000180228 ENSG00000180228 HGNC:9438 PROC gene PROC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3) False 3 67;33;0 1.1566 True ENSG00000115718 ENSG00000115718 HGNC:9451 PROP1 gene PROP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2, MIM#262600 False 3 100;0;0 1.1566 True ENSG00000175325 ENSG00000175325 HGNC:9455 PROS1 gene PROS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3) False 3 0;0;0 1.1566 False ENSG00000184500 ENSG00000184500 HGNC:9456 PRPS1 gene PRPS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) PRPS1 deficiency disorder MONDO:0100061;Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395 False 3 100;0;0 1.1566 True ENSG00000147224 ENSG00000147224 HGNC:9462 PRUNE1 gene PRUNE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 26539891;28334956;33105479;29797509 False 3 100;0;0 1.1566 True ENSG00000143363 ENSG00000143363 HGNC:13420 PRX gene PRX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dejerine-Sottas disease, 145900 (3) False 3 0;0;0 1.1566 False ENSG00000105227 ENSG00000105227 HGNC:13797 PSAP gene PSAP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900 10682309;30632081;11309366;19267410;8554069 False 3 100;0;0 1.1566 True ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency MIM#610992;Neu-Laxova syndrome 2 MIM#616038 32077105;17436247;25152457 False 3 100;0;0 1.1566 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSMB8 gene PSMB8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3) False 3 0;0;0 1.1566 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSPH gene PSPH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency, 614023 (3) False 3 0;0;0 1.1566 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTH1R gene PTH1R Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia, Blomstrand type (MIM#215045);Eiken syndrome (MIM#600002) 15525660;17164305;39276366 False 3 100;0;0 1.1566 True ENSG00000160801 ENSG00000160801 HGNC:9608 PTS gene PTS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 36583021;36212127;19830588;22237589 False 3 100;0;0 1.1566 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUS1 gene PUS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) False 3 0;0;0 1.1566 False ENSG00000177192 ENSG00000177192 HGNC:15508 PXDN gene PXDN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 7, with sclerocornea, MIM#269400 21474777;24939590;21907015 False 3 100;0;0 1.1566 True ENSG00000130508 ENSG00000130508 HGNC:14966 PYCR1 gene PYCR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, 612940 (3) False 3 0;0;0 1.1566 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYCR2 gene PYCR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 10, MIM#616420 25865492;27130255 False 3 100;0;0 1.1566 True ENSG00000143811 ENSG00000143811 HGNC:30262 PYROXD1 gene PYROXD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8 MIM#617258 30345904;30515627;27745833;33694278 False 3 100;0;0 1.1566 True ENSG00000121350 ENSG00000121350 HGNC:26162 QARS gene QARS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760 24656866;27717089;31618474;25471517;25432320;24656866;28620870;25041233;32042906 False 3 100;0;0 1.1566 True ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) False 3 0;0;0 1.1566 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB18 gene RAB18 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3 MIM#614222 21473985;20512159;23420520;23176487 False 3 100;0;0 1.1566 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB23 gene RAB23 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome, 201000 (3) False 3 0;0;0 1.1566 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB27A gene RAB27A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2, 607624 (3) False 3 0;0;0 1.1566 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAB33B gene RAB33B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Smith-McCort dysplasia 2, MIM #615222 35477554;34000439;22652534;28127940;23042644;34284742 False 3 100;0;0 1.1566 True ENSG00000172007 ENSG00000172007 HGNC:16075 RAB39B gene RAB39B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 72, MIM #300271 25434005;34761259;29152164;20159109 False 3 100;0;0 1.1566 True ENSG00000155961 ENSG00000155961 HGNC:16499 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, 600118 (3) False 3 100;0;0 1.1566 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome MONDO:0016649 16532399;20967465;23420520;32740904;32376645;24891604 False 3 100;0;0 1.1566 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAD50 gene RAD50 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, 613078 (3) False 3 0;0;0 1.1566 False ENSG00000113522 ENSG00000113522 HGNC:9816 RAG1 gene RAG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, B cell-negative, 601457 (3) False 3 0;0;0 1.1566 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, B cell-negative, 601457 (3) 30046960;26996199 False 3 100;0;0 1.1566 True ENSG00000175097 ENSG00000175097 HGNC:9832 RAPSN gene RAPSN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326;Fetal akinesia deformation sequence 2 MIM#618388 17594401 False 3 100;0;0 1.1566 True ENSG00000165917 ENSG00000165917 HGNC:9863 RARB gene RARB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000077092 ENSG00000077092 HGNC:9865 RARS gene RARS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 9, MIM#616140 31814314;28905880;24777941 False 3 100;0;0 1.1566 True ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, MIM#611523 38009286;29881806 False 3 100;0;0 1.1566 True ENSG00000146282 ENSG00000146282 HGNC:21406 RAX gene RAX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 16, MIM #611038 14662654;18783408;30811539;24033328;22736936;28831107 False 3 100;0;0 1.1566 True ENSG00000134438 ENSG00000134438 HGNC:18662 RBBP8 gene RBBP8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Jawad syndrome MIM#251255;Seckel syndrome 2 MIM#606744 26333564;24440292;21998596;24389050;34270086 False 3 100;0;0 1.1566 True ENSG00000101773 ENSG00000101773 HGNC:9891 RBCK1 gene RBCK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895 23104095;23798481;32187699;23889995;29260357 False 3 100;0;0 1.1566 True ENSG00000125826 ENSG00000125826 HGNC:15864 RBM10 gene RBM10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP syndrome, 311900 (3) 20451169;24259342;30450804;30189253;33340101 False 3 100;0;0 1.1566 True ENSG00000182872 ENSG00000182872 HGNC:9896 RCBTB1 gene RCBTB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive False 3 0;100;0 1.1566 False ENSG00000136144 ENSG00000136144 HGNC:18243 RD3 gene RD3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 12, 610612 (3) False 3 0;0;0 1.1566 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13, MIM#612712 31884613;19011012;28471114;34031043;35491887 False 3 100;0;0 1.1566 True ENSG00000139988 ENSG00000139988 HGNC:19977 RECQL4 gene RECQL4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Baller-Gerold syndrome, MIM# 218600;RAPADILINO syndrome, MIM# 266280;Rothmund-Thomson syndrome, type 2,MIM# 268400 39315607;39324487;12952869;15964893;10319867;12734318 False 3 100;0;0 1.1566 True ENSG00000160957 ENSG00000160957 HGNC:9949 REEP6 gene REEP6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 77 MIM#617304 False 3 100;0;0 1.1566 True ENSG00000115255 ENSG00000115255 HGNC:30078 REN gene REN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis MIM#267430 False 3 100;0;0 1.1566 True ENSG00000143839 ENSG00000143839 HGNC:9958 RETREG1 gene RETREG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115;MONDO:0013142 19838196;24327336;31737055;31596031 False 3 100;0;0 1.1566 True ENSG00000154153 ENSG00000154153 HGNC:25964 RFT1 gene RFT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, 612015 (3) False 3 0;0;0 1.1566 False ENSG00000163933 ENSG00000163933 HGNC:30220 RFX6 gene RFX6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, 615710 (3) False 3 0;0;0 1.1566 False ENSG00000185002 ENSG00000185002 HGNC:21478 RFXANK gene RFXANK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal MHC class II deficiency 2, MIM#620815 32875002 False 3 100;0;0 1.1566 True ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal MHC class II deficiency 4 MIM#620817 9118943;32875002;11258423 False 3 100;0;0 1.1566 True ENSG00000133111 ENSG00000133111 HGNC:9988 RIN2 gene RIN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3) 19631308;20424861;23963297;24449201 False 3 100;0;0 1.1566 True ENSG00000132669 ENSG00000132669 HGNC:18750 RIPK4 gene RIPK4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Popliteal pterygium syndrome, Bartsocas-Papas type 1, MIM# 263650 28940926;22197489;22197488;28416941 False 3 100;0;0 1.1566 True ENSG00000183421 ENSG00000183421 HGNC:496 RLIM gene RLIM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Tonne-Kalscheuer syndrome MIM#300978 False 3 100;0;0 1.1566 True ENSG00000131263 ENSG00000131263 HGNC:13429 RMND1 gene RMND1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, MIM#614922 27412952 False 3 100;0;0 1.1566 True ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia, 250250 (3) 16244706;21396580;22420014;11940090;16252239 False 3 100;0;0 1.1566 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, 610333 (3) False 3 0;0;0 1.1566 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2 MIM#610181 16845400;33307271;29239743 False 3 100;0;0 1.1566 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, 610329 (3) 32877590;20301648;24183309;23322642 False 3 100;0;0 1.1566 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, cystic, without megalencephaly, 612951 (3) False 3 0;0;0 1.1566 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNU4ATAC gene RNU4ATAC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal RNU4ATAC spectrum disorder MONDO:0100558 36795902;26522830 False 3 100;0;0 1.1566 True ENSG00000264229 ENSG00000264229 HGNC:34016 ROBO3 gene ROBO3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1 MIM#607313 16525029;15105459 False 3 100;0;0 1.1566 True ENSG00000154134 ENSG00000154134 HGNC:13433 ROGDI gene ROGDI Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Kohlschutter-Tonz syndrome MIM#226750 22424600;23086778;8133980;22482807 False 3 100;0;0 1.1566 True ENSG00000067836 ENSG00000067836 HGNC:29478 ROR2 gene ROR2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive, 268310 (3) False 3 0;0;0 1.1566 False ENSG00000169071 ENSG00000169071 HGNC:10257 RORC gene RORC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 42 MIM#616622 26160376;32960152 False 3 100;0;0 1.1566 True ENSG00000143365 ENSG00000143365 HGNC:10260 RP2 gene RP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 2, MIM#312600 10053026;11462235;22131869;8225316;26143542;16969763;14564670 False 3 100;0;0 1.1566 True ENSG00000102218 ENSG00000102218 HGNC:10274 RPE65 gene RPE65 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 20, MIM#613794;Leber congenital amaurosis 2, MIM#204100 False 3 100;0;0 1.1566 True ENSG00000116745 ENSG00000116745 HGNC:10294 RPGRIP1 gene RPGRIP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 13 MIM#608194, MONDO:0011987, Leber congenital amaurosis MIM#61382,MONDO:0013446 25414380;28456785;24997176;28559085;33308271;31666973;39669618;34722527 False 3 100;0;0 1.1566 True ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 5, 611561 (3) False 3 0;0;0 1.1566 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL10 gene RPL10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, syndromic, 35, MIM300998 25316788;26290468;25846674;29066376 False 3 67;33;0 1.1566 True ENSG00000147403 ENSG00000147403 HGNC:10298 RPS6KA3 gene RPS6KA3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Coffin-Lowry syndrome, MIM#303600;Intellectual developmental disorder, X-linked 19;MIM#300844 16879200 False 3 100;0;0 1.1566 True ENSG00000177189 ENSG00000177189 HGNC:10432 RRM2B gene RRM2B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) False 3 0;0;0 1.1566 False ENSG00000048392 ENSG00000048392 HGNC:17296 RSPH1 gene RSPH1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24 MIM#615481 23993197;24568568 False 3 100;0;0 1.1566 True ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH4A gene RSPH4A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11, 612649 (3) False 3 0;0;0 1.1566 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12, MIM#612650 25789548;22384920;23993197;19200523;27626380 False 3 100;0;0 1.1566 True ENSG00000172426 ENSG00000172426 HGNC:21057 RTEL1 gene RTEL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5, MIM#615190 23453664 False 3 100;0;0 1.1566 True ENSG00000258366 ENSG00000258366 HGNC:15888 RTN4IP1 gene RTN4IP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732 False 3 100;0;0 1.1566 True ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and polymicrogyria with seizures MIM#614833 30879067;30121372;29967526;38178912 False 3 100;0;0 1.1566 True ENSG00000176225 ENSG00000176225 HGNC:18654 RYR1 gene RYR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000;Central core disease, MIM# 117000 PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725 False 3 33;67;0 1.1566 True ENSG00000196218 ENSG00000196218 HGNC:10483 SACS gene SACS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, MIM#270550 10655055;14718706;12873855 False 3 100;0;0 1.1566 True ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, 612952 (3) False 3 0;0;0 1.1566 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease MIM#246700 12692552;3792776;18786134 False 3 100;0;0 1.1566 True ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3) 24034276;21255763;33751860;34407605;38326069;38264205 False 3 100;0;0 1.1566 True ENSG00000104835 ENSG00000104835 HGNC:17697 SBDS gene SBDS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM#260400 12496757;32412173 False 3 100;0;0 1.1566 True ENSG00000126524 ENSG00000126524 HGNC:19440 SBF2 gene SBF2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B2 , MIM#604563, MONDO:0011475 12554688;15477569;12687498;15304601;31772832;31070812 False 3 100;0;0 1.1566 True ENSG00000133812 ENSG00000133812 HGNC:2135 SC5D gene SC5D Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, MIM#607330 17853487;12189593;12812989;24142275 False 3 100;0;0 1.1566 True ENSG00000109929 ENSG00000109929 HGNC:10547 SCARB2 gene SCARB2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900 26677510;35346091 False 3 100;0;0 1.1566 True ENSG00000138760 ENSG00000138760 HGNC:1665 SCARF2 gene SCARF2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Van den Ende-Gupta syndrome, MIM#600920 23808541;33783941;19449421;35256560;1609830 False 3 100;0;0 1.1566 True ENSG00000244486 ENSG00000244486 HGNC:19869 SCN9A gene SCN9A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Insensitivity to pain, congenital, 243000 (3) False 3 0;0;0 1.1566 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCNN1A gene SCNN1A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350 (3) False 3 0;0;0 1.1566 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350 (3) False 3 0;0;0 1.1566 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCO2 gene SCO2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377 15210538;18924171;22231385;10545952;10749987 False 3 100;0;0 1.1566 True ENSG00000130489 ENSG00000130489 HGNC:10604 SCYL1 gene SCYL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21, MIM#616719 False 3 100;0;0 1.1566 True ENSG00000142186 ENSG00000142186 HGNC:14372 SDCCAG8 gene SDCCAG8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16 (MIM# 615993);Senior-Loken syndrome 7 (MIM# 613615) 22819833;20835237;32432520;22626039;31534065;26968886 False 3 100;0;0 1.1566 True ENSG00000054282 ENSG00000054282 HGNC:10671 SDHAF1 gene SDHAF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 2, MIM#619166 19465911;22995659 False 3 100;0;0 1.1566 True ENSG00000205138 ENSG00000205138 HGNC:33867 SEC23B gene SEC23B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, 224100 (3) False 3 0;0;0 1.1566 False ENSG00000101310 ENSG00000101310 HGNC:10702 SELENON gene SELENON Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1, 602771 (3) False 3 0;0;0 1.1566 False ENSG00000162430 ENSG00000162430 HGNC:15999 SEPSECS gene SEPSECS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811 (3) False 3 0;0;0 1.1566 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739 19015156;23355087;22683713;23918762;28916646;29205472 False 3 100;0;0 1.1566 True ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINF1 gene SERPINF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, MIM# 613982;MONDO:0013515 21353196;23054245;37425194 False 3 100;0;0 1.1566 True ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome VI, 277170 (3) False 3 100;0;0 1.1566 False ENSG00000149257 ENSG00000149257 HGNC:1546 SETX gene SETX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002) 23129421 False 3 100;0;0 1.1566 True ENSG00000107290 ENSG00000107290 HGNC:445 SFTPB gene SFTPB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 8163685;8021783;10378403;10571948 False 3 100;0;0 1.1566 True ENSG00000168878 ENSG00000168878 HGNC:10801 SGCA gene SGCA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099;autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968 30007747;9192266;34404573;30989758 False 3 100;0;0 1.1566 True ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 False 3 100;0;0 1.1566 True ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 8841194;19259135;20623375;10838250;10735275;9832045;30733730 False 3 100;0;0 1.1566 True ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2C, 253700 (3) PMID: 36992678;18285821 False 3 100;0;0 1.1566 True ENSG00000102683 ENSG00000102683 HGNC:10809 SGPL1 gene SGPL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) 36050428;30517686;35748945 False 3 100;0;0 1.1566 True ENSG00000166224 ENSG00000166224 HGNC:10817 SGSH gene SGSH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidisis type IIIA (Sanfilippo A), MIM#252900 7493035;9158154;9401012;9554748 False 3 100;0;0 1.1566 True ENSG00000181523 ENSG00000181523 HGNC:10818 SH2D1A gene SH2D1A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 1, 308240 (3) 6306053;9771704;11049992;20301580 False 3 100;0;0 1.1566 True ENSG00000183918 ENSG00000183918 HGNC:10820 SH3PXD2B gene SH3PXD2B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Frank-ter Haar syndrome, MIM#249420 24105366;20137777;34538861;33234702;31978614 False 3 100;0;0 1.1566 True ENSG00000174705 ENSG00000174705 HGNC:29242 SH3TC2 gene SH3TC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C, MIM#601596 False 3 100;0;0 1.1566 True ENSG00000169247 ENSG00000169247 HGNC:29427 SIL1 gene SIL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 (3) False 3 100;0;0 1.1566 False ENSG00000120725 ENSG00000120725 HGNC:24624 SKIV2L gene SKIV2L Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, 614602 (3) False 3 0;0;0 1.1566 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A1 gene SLC12A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, MIM#601678 8640224;9355073;28095294 False 3 100;0;0 1.1566 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A5 gene SLC12A5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000124140 ENSG00000124140 HGNC:13818 SLC12A6 gene SLC12A6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 34706912 False 3 100;0;0 1.1566 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC13A5 gene SLC13A5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 24995870;26384929;27600704;38113697 False 3 100;0;0 1.1566 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A1 gene SLC16A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Monocarboxylate transporter 1 deficiency, MIM#616095 25390740;20301549;36082648;35729663 False 3 100;0;0 1.1566 True ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM #300523 20301789;20083155;15980113 False 3 100;0;0 1.1566 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile (MIM#269920) 10947946;5516337;33862140 False 3 100;0;0 1.1566 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC19A2 gene SLC19A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270 10391221;19643445 False 3 100;0;0 1.1566 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 15871139;19387023;20065143;23423671 False 3 100;0;0 1.1566 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A4 gene SLC1A4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) False 3 0;0;0 1.1566 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC22A5 gene SLC22A5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 9916797;10072434;10051646;10425211;10480371;10679939;9837751;23379544;31399326;25778941;17884651;22420015 False 3 100;0;0 1.1566 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC24A5 gene SLC24A5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type VI, MIM#113750 23364476;23985994;26491832 False 3 100;0;0 1.1566 True ENSG00000188467 ENSG00000188467 HGNC:20611 SLC25A1 gene SLC25A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3);Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3) 20301347;26870663;31527857;31808147;23561848;23393310 False 3 100;0;0 1.1566 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A13 gene SLC25A13 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, 605814 (3) False 3 0;100;0 1.1566 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperornithinaemia-hyperammonaemia-homocitrullinemia syndrome, MIM#238970 10369256;19242930 False 3 100;0;0 1.1566 True ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710);Microcephaly, Amish type (MIM#607196) 20301539;31095747 False 3 100;0;0 1.1566 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A22 gene SLC25A22 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, MIM#609304 15592994;19780765;24596948;33821742;33342683;31285529 False 3 100;0;0 1.1566 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A38 gene SLC25A38 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Anaemia, sideroblastic, 1, MIM #300751 34298585;19412178 False 3 100;0;0 1.1566 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A46 gene SLC25A46 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505);Pontocerebellar hypoplasia, type 1E (MIM# 619303) 26168012;27543974;30178502 False 3 100;0;0 1.1566 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC26A2 gene SLC26A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal diastrophic dysplasia MONDO:0009107;multiple epiphyseal dysplasia MONDO:0016648;atelosteogenesis type II MONDO:0009727;achondrogenesis type IB MONDO:0010966 20301483;20301689;11241838;8723100 False 3 100;0;0 1.1566 True ENSG00000155850 ENSG00000155850 HGNC:10994 SLC26A3 gene SLC26A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diarrhea 1, secretory chloride, congenital, 214700 (3) False 3 100;0;0 1.1566 False ENSG00000091138 ENSG00000091138 HGNC:3018 SLC29A3 gene SLC29A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome MIM#602782 20619369;34657628;18940313;19336477;22238637 False 3 100;0;0 1.1566 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A10 gene SLC2A10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome, 208050 (3) 30071989;16550171;17935213;22116938 False 3 100;0;0 1.1566 True ENSG00000197496 ENSG00000197496 HGNC:13444 SLC2A2 gene SLC2A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, MIM# 227810 30950137;22145468 False 3 100;0;0 1.1566 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC30A10 gene SLC30A10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3) False 3 0;0;0 1.1566 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC33A1 gene SLC33A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) False 3 100;0;0 1.1566 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC35A3 gene SLC35A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures MIM#615553 28777481;28328131;24031089 False 3 100;0;0 1.1566 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35D1 gene SLC35D1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia, MIM#269250 17952091;19508970;31423530;38058750;35934917 False 3 100;0;0 1.1566 True ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, 232220 (3) False 3 0;0;0 1.1566 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC38A8 gene SLC38A8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) 24290379;32744312 False 3 100;0;0 1.1566 True ENSG00000166558 ENSG00000166558 HGNC:32434 SLC39A14 gene SLC39A14 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypermanganesaemia with dystonia 2, MIM# 617013 27431290;29498153;27231142;30232769 False 3 100;0;0 1.1566 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, 201100 (3) False 3 0;0;0 1.1566 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC45A2 gene SLC45A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IV, 606574 (3) 11574907;14722913;14961451 False 3 100;0;0 1.1566 True ENSG00000164175 ENSG00000164175 HGNC:16472 SLC46A1 gene SLC46A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, 229050 (3) 20301716 False 3 100;0;0 1.1566 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A1 gene SLC4A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, distal, AR, 611590 (3) False 3 0;0;0 1.1566 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A4 gene SLC4A4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3) False 3 100;0;0 1.1566 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC52A2 gene SLC52A2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, 614707 (3) False 3 0;0;0 1.1566 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, 211530 (3) False 3 0;0;0 1.1566 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A7 gene SLC5A7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 27569547;33250374;31299140 False 3 100;0;0 1.1566 True ENSG00000115665 ENSG00000115665 HGNC:14025 SLC6A3 gene SLC6A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 613135 (3) 21112253;19478460 False 3 100;0;0 1.1566 True ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3, 614618 (3) False 3 100;0;0 1.1566 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, 300352 (3) False 3 0;0;0 1.1566 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A7 gene SLC7A7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, 222700 (3) False 3 0;0;0 1.1566 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC9A3 gene SLC9A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive 30633106;31276831;26358773;32227118;35775128 False 3 0;100;0 1.1566 True ENSG00000066230 ENSG00000066230 HGNC:11073 SLC9A6 gene SLC9A6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Christianson type MIM#300243 18342287;19377476;25044251;33278113;32569089;31879735;31192222;35198730 False 3 100;0;0 1.1566 True ENSG00000198689 ENSG00000198689 HGNC:11079 SMARCAL1 gene SMARCAL1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, 242900 (3) False 3 0;0;0 1.1566 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMN1 gene SMN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669 7813012;23788250;39062735;29904179;33531827 False 3 100;0;0 1.1566 True ENSG00000172062 ENSG00000172062 HGNC:11117 SMPD1 gene SMPD1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, 257200 (3) False 3 0;0;0 1.1566 False ENSG00000166311 ENSG00000166311 HGNC:11120 SMS gene SMS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583 30237987;34177437;32838743;23805436 False 3 100;0;0 1.1566 True ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP29 gene SNAP29 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) 29051910;21073448;30793783;33977139 False 3 100;0;0 1.1566 True ENSG00000099940 ENSG00000099940 HGNC:11133 SNX14 gene SNX14 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 20 MIM#616354 25439728;25848753;27913285;24501761 False 3 100;0;0 1.1566 True ENSG00000135317 ENSG00000135317 HGNC:14977 SOST gene SOST Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sclerosteosis 1, OMIM#269500,MONDO:0010016 35160258;21221996;17853455;30077757;24594238 False 3 100;0;0 1.1566 True ENSG00000167941 ENSG00000167941 HGNC:13771 SP110 gene SP110 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hepatic venoocclusive disease with immunodeficiency, 235550 (3) False 3 0;0;0 1.1566 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPAG1 gene SPAG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 (3) 24055112;32502479 False 3 100;0;0 1.1566 True ENSG00000104450 ENSG00000104450 HGNC:11212 SPART gene SPART Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Troyer syndrome (MIM#275900);SPG20;MONDO:0010156 31535723;28875386;28679690 False 3 100;0;0 1.1566 True ENSG00000133104 ENSG00000133104 HGNC:18514 SPATA5 gene SPATA5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA7 gene SPATA7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 3, MIM #604232;Retinitis pigmentosa 94, variable age at onset, autosomal recessive, MIM #604232 31908400;32799588 False 3 100;0;0 1.1566 True ENSG00000042317 ENSG00000042317 HGNC:20423 SPEG gene SPEG Expert Review;Expert Review Green Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, MIM# 615959 29614691;30157964;25087613;29474540;31625632;28624463;26578207;30412272;32925938;33794647;19118250 False 3 100;0;0 1.1566 True ENSG00000072195 ENSG00000072195 HGNC:16901 SPG11 gene SPG11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia 11 MONDO:0011445 33581793 False 3 100;0;0 1.1566 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPINK5 gene SPINK5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Netherton syndrome MIM#256500 False 3 100;0;0 1.1566 True ENSG00000133710 ENSG00000133710 HGNC:15464 SPINT2 gene SPINT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3) False 3 0;0;0 1.1566 False ENSG00000167642 ENSG00000167642 HGNC:11247 SPR gene SPR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3) False 3 0;0;0 1.1566 False ENSG00000116096 ENSG00000116096 HGNC:11257 SQSTM1 gene SQSTM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM#617145 27545679;39214971 False 3 100;0;0 1.1566 True ENSG00000161011 ENSG00000161011 HGNC:11280 SRD5A3 gene SRD5A3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, 612379 (3) False 3 0;0;0 1.1566 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSR4 gene SSR4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive False 3 100;0;0 1.1566 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL5 gene ST3GAL5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAMBP gene STAMBP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, 614261 (3) 23542699;31638258;29907875;27531570;25692795;25266620;11713295 False 3 100;0;0 1.1566 True ENSG00000124356 ENSG00000124356 HGNC:16950 STAR gene STAR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia, 201710 (3) 7892608;8634702;9326645;8948562;9097960;11061515;11297612;14764819;16968793 False 3 100;0;0 1.1566 True ENSG00000147465 ENSG00000147465 HGNC:11359 STAT1 gene STAT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3) False 3 100;0;0 1.1566 False ENSG00000115415 ENSG00000115415 HGNC:11362 STIL gene STIL Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 7, primary, (MIM# 612703) 19215732;22989186;25218063;33132204;32677750;29230157;29352115;24485834 False 3 100;0;0 1.1566 True ENSG00000123473 ENSG00000123473 HGNC:10879 STIM1 gene STIM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10, 612783 (3) False 3 0;0;0 1.1566 False ENSG00000167323 ENSG00000167323 HGNC:11386 STRA6 gene STRA6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated, with coloboma 8, 601186 (3) False 3 0;0;0 1.1566 False ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3), Autosomal recessive False 3 100;0;0 1.1566 False ENSG00000266173 ENSG00000266173 HGNC:30172 STUB1 gene STUB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 16 MIM#615768 24113144;24742043 False 3 100;0;0 1.1566 True ENSG00000103266 ENSG00000103266 HGNC:11427 STX11 gene STX11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 20486178;16582076 False 3 100;0;0 1.1566 True ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101 19804848;22451424;20558610 False 3 100;0;0 1.1566 True ENSG00000076944 ENSG00000076944 HGNC:11445 SUCLA2 gene SUCLA2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM#612073 False 3 100;0;0 1.1566 True ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) 20693550 False 3 100;0;0 1.1566 True ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, MIM#272200 30896912 False 3 100;0;0 1.1566 True ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency MIM#272300 9428520;15952210;31127934;39676698;36303223 False 3 100;0;0 1.1566 True ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 19780766;23829769;22488715 False 3 100;0;0 1.1566 True ENSG00000148290 ENSG00000148290 HGNC:11474 SYN1 gene SYN1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491;Intellectual developmental disorder, X-linked 50, MIM#300115 14985377;21441247;28973667 False 3 100;0;0 1.1566 True ENSG00000008056 ENSG00000008056 HGNC:11494 SYP gene SYP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 96 (MIM#300802) 23966691;19377476 False 3 50;50;0 1.1566 True ENSG00000102003 ENSG00000102003 HGNC:11506 TALDO1 gene TALDO1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency MIM#606003 25388407;23315216;29923087;26238251;11283793;30740741 False 3 100;0;0 1.1566 True ENSG00000177156 ENSG00000177156 HGNC:11559 TANGO2 gene TANGO2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration False 3 100;0;0 1.1566 True ENSG00000183597 ENSG00000183597 HGNC:25439 TAP1 gene TAP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal MHC class I deficiency 1, MIM #604571 30189467;10074494;28161407;36839544;16087697;10931128 False 3 100;0;0 1.1566 True ENSG00000168394 ENSG00000168394 HGNC:43 TAT gene TAT Expert Review Green;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type II (MIM#276600)" 16574453 False 3 67;33;0 1.1566 True ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome (MIM# 302060) 25299040 False 3 100;0;0 1.1566 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D23 gene TBC1D23 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000036054 ENSG00000036054 HGNC:25622 TBC1D24 gene TBC1D24 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 86 MIM#614617;Developmental and epileptic encephalopathy 16 MIM#615338;DOORS syndrome MIM#220500;Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105;Myoclonic epilepsy, infantile, familial MIM#605021 27281533;25719194 False 3 100;0;0 1.1566 True ENSG00000162065 ENSG00000162065 HGNC:29203 TBCD gene TBCD Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 27666374;27666370;27807845;31569255 False 3 100;0;0 1.1566 True ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207;Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410;Kenny-Caffey syndrome, type 1 MIM#244460 False 3 100;0;0 1.1566 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBCK gene TBCK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3), Autosomal recessive False 3 100;0;0 1.1566 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBX19 gene TBX19 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency, 201400 (3) False 3 0;0;0 1.1566 False ENSG00000143178 ENSG00000143178 HGNC:11596 TCAP gene TCAP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954 37216648;25724973 False 3 100;0;0 1.1566 True ENSG00000173991 ENSG00000173991 HGNC:11610 TCIRG1 gene TCIRG1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1, 259700 (3) False 3 0;0;0 1.1566 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350 (3) False 3 100;0;0 1.1566 False ENSG00000185339 ENSG00000185339 HGNC:11653 TCTN2 gene TCTN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 21462283;32655147;33590725;25118024;25182137 False 3 100;0;0 1.1566 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, MIM# 614815;MONDO:0013896;Orofaciodigital syndrome IV, MIM# 258860;MONDO:0009794 22883145;32139166;25118024;34096792 False 3 100;0;0 1.1566 True ENSG00000119977 ENSG00000119977 HGNC:24519 TDRD7 gene TDRD7 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cataract 36 MIM#613887 21436445;28418495 False 3 0;0;0 1.1566 True ENSG00000196116 ENSG00000196116 HGNC:30831 TECPR2 gene TECPR2 Expert Review Green;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 26542466;23176824;35130874 False 3 100;0;0 1.1566 True ENSG00000196663 ENSG00000196663 HGNC:19957 TELO2 gene TELO2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome, MIM#616954 28944240;27132593 False 3 100;0;0 1.1566 True ENSG00000100726 ENSG00000100726 HGNC:29099 TF gene TF Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Atransferrinaemia MIM#209300 32028041 False 3 100;0;0 1.1566 True ENSG00000091513 ENSG00000091513 HGNC:11740 TGM1 gene TGM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 1, MIM#242300 9326318;10482949;11298529;24261627;30302839 False 3 100;0;0 1.1566 True ENSG00000092295 ENSG00000092295 HGNC:11777 TH gene TH Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, MIM# 605407 False 3 100;0;0 1.1566 True ENSG00000180176 ENSG00000180176 HGNC:11782 THOC2 gene THOC2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 12 MIM#300957 26166480;32116545;29851191;32960281;34976470;37945483 False 3 100;0;0 1.1566 True ENSG00000125676 ENSG00000125676 HGNC:19073 TIMM8A gene TIMM8A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome MIM#304700 11803487;11405816;7643352 False 3 100;0;0 1.1566 True ENSG00000126953 ENSG00000126953 HGNC:11817 TJP2 gene TJP2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 4, 615878 (3) False 3 0;0;0 1.1566 False ENSG00000119139 ENSG00000119139 HGNC:11828 TK2 gene TK2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560 23230576 False 3 100;0;0 1.1566 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMCO1 gene TMCO1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#213980 24194475;20018682;17351359;30556256;31102500 False 3 100;0;0 1.1566 True ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM107 gene TMEM107 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XVI, MIM#617563 26518474;26595381;26123494 False 3 100;0;0 1.1566 True ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM126A gene TMEM126A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 MIM#612989 33879611 False 3 100;0;0 1.1566 True ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM138 gene TMEM138 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM#614465 22282472;34354814;20301500 False 3 100;0;0 1.1566 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM165 gene TMEM165 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk, 614727 (3) False 3 0;0;0 1.1566 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM216 gene TMEM216 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM#608091;Meckel syndrome 2, MIM#603194;Retinitis pigmentosa 98, MIM#620996;ciliopathy MONDO:0005308 20512146 False 3 100;0;0 1.1566 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, 614970 (3) False 3 0;0;0 1.1566 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, 614424 (3) False 3 0;0;0 1.1566 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM5 gene TMEM5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3) False 3 0;0;0 1.1566 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM67 gene TMEM67 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal COACH syndrome 1 MIM#216360;Joubert syndrome 6 MIM#610688;Meckel syndrome 3 MIM#607361;Nephronophthisis 11 MIM#613550 29891882;20232449;26092869;27336129 False 3 100;0;0 1.1566 True ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM70 gene TMEM70 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970 18953340;21147908;30950220 False 3 100;0;0 1.1566 True ENSG00000175606 ENSG00000175606 HGNC:26050 TMTC3 gene TMTC3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8 MIM#617255, MONDO:0014992 27773428;28973161;33293961 False 3 100;0;0 1.1566 True ENSG00000139324 ENSG00000139324 HGNC:26899 TNFRSF11A gene TNFRSF11A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7, MIM#612301 18606301;36031188 False 3 100;0;0 1.1566 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF11B gene TNFRSF11B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Paget disease of bone 5, juvenile-onset MIM#239000 25108083;34166796;29080812;14672344 False 3 100;0;0 1.1566 True ENSG00000164761 ENSG00000164761 HGNC:11909 TNFSF11 gene TNFSF11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2, MIM#259710 17632511;36031188;32940787;32048120;10984520 False 3 100;0;0 1.1566 True ENSG00000120659 ENSG00000120659 HGNC:11926 TNNT1 gene TNNT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 5, Amish type, 605355 (3) False 3 0;0;0 1.1566 False ENSG00000105048 ENSG00000105048 HGNC:11948 TOE1 gene TOE1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000132773 ENSG00000132773 HGNC:15954 TPI1 gene TPI1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512 9338582;32873690;8503454 False 3 100;0;0 1.1566 True ENSG00000111669 ENSG00000111669 HGNC:12009 TPK1 gene TPK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3) 33086386;32679198;22152682;33231275 False 3 100;0;0 1.1566 True ENSG00000196511 ENSG00000196511 HGNC:17358 TPM3 gene TPM3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 4B, autosomal recessive MIM#609284 26418456;7704029;17376686;18382475;19487656;12196661;10619715 False 3 100;0;0 1.1566 True ENSG00000143549 ENSG00000143549 HGNC:12012 TPP1 gene TPP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, 204500 (3) False 3 0;0;0 1.1566 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRAPPC11 gene TRAPPC11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2S, 615356 (3) False 3 0;0;0 1.1566 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC9 gene TRAPPC9 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 13 MIM#613192 30853973 False 3 100;0;0 1.1566 True ENSG00000167632 ENSG00000167632 HGNC:30832 TRDN gene TRDN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441;Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 31983240;25922419;30649896;22422768 False 3 100;0;0 1.1566 True ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165 20301648;33996686;36814213 False 3 100;0;0 1.1566 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM32 gene TRIM32 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2H, 254110 (3) False 3 0;0;0 1.1566 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism MIM#253250 10888877;25470042;33042106;17100991;12754710;11938494 False 3 100;0;0 1.1566 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP11 gene TRIP11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Achondrogenesis, type IA, MIM#200600 20089971;29872333;31903676;34057271;34014608 False 3 100;0;0 1.1566 True ENSG00000100815 ENSG00000100815 HGNC:12305 TRIT1 gene TRIT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10A gene TRMT10A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism, 616033 (3) False 3 0;0;0 1.1566 False ENSG00000145331 ENSG00000145331 HGNC:28403 TRMU gene TRMU Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile MIM# 613070;acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111 19732863;36305855 False 3 100;0;0 1.1566 True ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM #616084 25193871;23553769;27389523;29170023 False 3 100;0;0 1.1566 True ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM6 gene TRPM6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, 602014 (3) False 3 0;0;0 1.1566 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSEN2 gene TSEN2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, MIM #612389 23562994;20952379;18711368 False 3 100;0;0 1.1566 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A (MIM#277470);Pontocerebellar hypoplasia type 4 (MIM#225753) 20952379 False 3 100;0;0 1.1566 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, MIM#610505 33816677;31267352;30911037;27677415 False 3 100;0;0 1.1566 True ENSG00000123297 ENSG00000123297 HGNC:12367 TSHB gene TSHB Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypothryoidism, congenital, nongoitrous 4, 275100 (3) 31384098 False 3 100;0;0 1.1566 True ENSG00000134200 ENSG00000134200 HGNC:12372 TTC19 gene TTC19 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2 MIM#615157 21278747;23532514;24368687;24397319;25887401 False 3 100;0;0 1.1566 True ENSG00000011295 ENSG00000011295 HGNC:26006 TTC21B gene TTC21B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 4 with or without polydactyly, MIM #613819 21258341;25492405;33875766 False 3 100;0;0 1.1566 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC37 gene TTC37 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, 222470 (3) False 3 100;0;0 1.1566 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) False 3 100;0;0 1.1566 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTC8 gene TTC8 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM #615985 14520415;19797195 False 3 100;0;0 1.1566 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTI2 gene TTI2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 39, 615541 (3) False 3 0;0;0 1.1566 False ENSG00000129696 ENSG00000129696 HGNC:26262 TTPA gene TTPA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency, 277460 (3) False 3 0;0;0 1.1566 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUBGCP4 gene TUBGCP4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3) 32270730;25817018;37038737 False 3 100;0;0 1.1566 True ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 1, MIM #251270 25344692;22279524;39634241;37927319;37031378 False 3 100;0;0 1.1566 True ENSG00000128159 ENSG00000128159 HGNC:18127 TUFM gene TUFM Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, 610678 (3) 26741492;17160893;37433570;30903008;38630895 False 3 100;0;0 1.1566 True ENSG00000178952 ENSG00000178952 HGNC:12420 TULP1 gene TULP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 15, MIM#613843;Retinitis pigmentosa 14, MIM#600132 15024725;17962469;17620573;27440997 False 3 100;0;0 1.1566 True ENSG00000112041 ENSG00000112041 HGNC:12423 TUSC3 gene TUSC3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 7 MIM#611093 18452889;18455129;21739581;27148795;31606977;28397838;18452889;23825019 False 3 100;0;0 1.1566 True ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245;Perrault syndrome 5, MIM#616138 31852434;35035228 False 3 100;0;0 1.1566 True ENSG00000107815 ENSG00000107815 HGNC:1160 TXNL4A gene TXNL4A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Burn-McKeown syndrome, MIM#608572 25434003;34713892;28905882 False 3 100;0;0 1.1566 True ENSG00000141759 ENSG00000141759 HGNC:30551 TYK2 gene TYK2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 35, MIM #611521 17088085;26304966;34569645;32537443 False 3 100;0;0 1.1566 True ENSG00000105397 ENSG00000105397 HGNC:12440 TYMP gene TYMP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3) False 3 0;0;0 1.1566 False ENSG00000025708 ENSG00000025708 HGNC:3148 TYR gene TYR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism type 1 (MONDO:0018135);Albinism, oculocutaneous, type IA, MIM#203100;Albinism, oculocutaneous, type IB, MIM#606952 30868138;37053367 False 3 100;0;0 1.1566 True ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III, 203290 (3) 9345097;25093188 False 3 100;0;0 1.1566 True ENSG00000107165 ENSG00000107165 HGNC:12450 UBA1 gene UBA1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked 2, infantile, 301830 (3) 18179898;32181232;31932168;29034082;23518311;26028276 False 3 100;0;0 1.1566 True ENSG00000130985 ENSG00000130985 HGNC:12469 UBA5 gene UBA5 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 44, MIM#617132 27545681;27545681;27545674;32179706;26872069 False 3 100;0;0 1.1566 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBE2A gene UBE2A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Nascimento type, MIM #300860 16909393;24053514;21108393;20412111 False 3 100;0;0 1.1566 True ENSG00000077721 ENSG00000077721 HGNC:12472 UBE2T gene UBE2T Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group T, MIM#616435 32646888;26119737;26046368;26085575 False 3 100;0;0 1.1566 True ENSG00000077152 ENSG00000077152 HGNC:25009 UBE3B gene UBE3B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Kaufman oculocerebrofacial syndrome, 244450 (3) False 3 0;0;0 1.1566 False ENSG00000151148 ENSG00000151148 HGNC:13478 UBR1 gene UBR1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Johanson-Blizzard syndrome MIM#243800 24599544;18553553;16311597 False 3 100;0;0 1.1566 True ENSG00000159459 ENSG00000159459 HGNC:16808 UFM1 gene UFM1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000120686 ENSG00000120686 HGNC:20597 UGT1A1 gene UGT1A1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport);Crigler-Najjar syndrome, type I MIM#218800;Crigler-Najjar syndrome, type II MIM#606785 12983120;37585628;1734381;5411133;9413009 False 3 100;0;0 1.1566 True ENSG00000241635 ENSG00000241635 HGNC:12530 UMPS gene UMPS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Orotic aciduria, MIM#258900 28205048;33489760 False 3 100;0;0 1.1566 True ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13D gene UNC13D Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 16825436;17993578;21881043 False 3 100;0;0 1.1566 True ENSG00000092929 ENSG00000092929 HGNC:23147 UNC80 gene UNC80 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000144406 ENSG00000144406 HGNC:26582 UPF3B gene UPF3B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic 14 MIM#300676 26012578;38318947 False 3 100;0;0 1.1566 True ENSG00000125351 ENSG00000125351 HGNC:20439 UROS gene UROS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic MIM#263700, cutaneous porphyria MONDO:0009902 30685241;24027798;28334762;27512208;34187847;34828434;15065102 False 3 100;0;0 1.1566 True ENSG00000188690 ENSG00000188690 HGNC:12592 USB1 gene USB1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia MIM#604173 29072891 False 3 100;0;0 1.1566 True ENSG00000103005 ENSG00000103005 HGNC:25792 USH1C gene USH1C Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1C MIM# 276904, MONDO:0010171 31858762;10973247;10973248;11239869;21203349;12107438 False 3 100;0;0 1.1566 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1G, 606943 (3) False 3 0;0;0 1.1566 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2A, 276901 (3) False 3 0;0;0 1.1566 False ENSG00000042781 ENSG00000042781 HGNC:12601 USP9X gene USP9X Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 31443933;26833328 False 3 0;0;0 1.1566 True ENSG00000124486 ENSG00000124486 HGNC:12632 VARS gene VARS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000204394 ENSG00000204394 HGNC:12651 VARS2 gene VARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20, 615917 (3) False 3 100;0;0 1.1566 False ENSG00000137411 ENSG00000137411 HGNC:21642 VIPAS39 gene VIPAS39 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3) False 3 0;0;0 1.1566 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3) False 3 0;100;0 1.1566 False ENSG00000167397 ENSG00000167397 HGNC:23663 VLDLR gene VLDLR Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome MIM#224050 16080122;18326629;10380922 False 3 100;0;0 1.1566 True ENSG00000147852 ENSG00000147852 HGNC:12698 VMA21 gene VMA21 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, X-linked, with excessive autophagy MIM#310440 27916343;25809233;23315026;36553512 False 3 100;0;0 1.1566 True ENSG00000160131 ENSG00000160131 HGNC:22082 VPS11 gene VPS11 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive 26307567;26307567;27473128;11250079;33452836 False 3 100;0;0 1.1566 True ENSG00000160695 ENSG00000160695 HGNC:14583 VPS13B gene VPS13B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550 (3) False 3 0;0;0 1.1566 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS33B gene VPS33B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3) False 3 0;0;0 1.1566 False ENSG00000184056 ENSG00000184056 HGNC:12712 VPS45 gene VPS45 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3) False 3 100;0;0 1.1566 False ENSG00000136631 ENSG00000136631 HGNC:14579 VPS53 gene VPS53 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2E, MIM#615851 12920088;24577744;30100179 False 3 100;0;0 1.1566 True ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866;Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542 38554151;19646678;21937992;25609612;24126608;27281532;34169149;26583493 False 3 100;0;0 1.1566 True ENSG00000100749 ENSG00000100749 HGNC:12718 VSX2 gene VSX2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia with coloboma 3, MIM# 610092;Microphthalmia, isolated 2, MIM# 610093 15257456;8630490;17661825;3378363;10932181 False 3 100;0;0 1.1566 True ENSG00000119614 ENSG00000119614 HGNC:1975 WARS2 gene WARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures MIM#617710;Parkinsonism-dystonia 3, childhood-onset MIM#619738 37107582;37824696 False 3 100;0;0 1.1566 True ENSG00000116874 ENSG00000116874 HGNC:12730 WAS gene WAS Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Neutropenia, severe congenital, X-linked, MIM#300299;Thrombocytopenia, X-linked, MIM#313900;Wiskott-Aldrich syndrome, MIM#301000 12969986;23689198;20301357;34307257 False 3 100;0;0 1.1566 True ENSG00000015285 ENSG00000015285 HGNC:12731 WDR19 gene WDR19 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, MIM# 614377;Senior-Loken syndrome 8, MIM# 616307;Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376;Cranioectodermal dysplasia 4, MIM# 614378 38163131;22019273 False 3 100;0;0 1.1566 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287 24183449;24183451;33124039;30649997;29241935;28379358 False 3 100;0;0 1.1566 True ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3) False 3 0;0;0 1.1566 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR45B gene WDR45B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive 21937992;28503735;27431290 False 3 100;0;0 1.1566 True ENSG00000141580 ENSG00000141580 HGNC:25072 WDR60 gene WDR60 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3) 23910462;29271569;26874042;37228654 False 3 100;0;0 1.1566 True ENSG00000126870 ENSG00000126870 HGNC:21862 WDR62 gene WDR62 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317 20890279;20890278;20729831;21496009;21834044;22775483;32677750 False 3 100;0;0 1.1566 True ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome, 251300 (3) False 3 0;0;0 1.1566 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) False 3 100;0;0 1.1566 False ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 1 MIM#222300 20301750;33946243 False 3 100;0;0 1.1566 True ENSG00000109501 ENSG00000109501 HGNC:12762 WHRN gene WHRN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2D, MIM#611383 26307081;26338283;22147658;17171570;21738389;27117407 False 3 100;0;0 1.1566 True ENSG00000095397 ENSG00000095397 HGNC:16361 WISP3 gene WISP3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) False 3 0;0;0 1.1566 False ENSG00000112761 ENSG00000112761 HGNC:12771 WNK1 gene WNK1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type II MIM#201300 15060842;15911806;15455397;16534117;21089229;32790646 False 3 100;0;0 1.1566 True ENSG00000060237 ENSG00000060237 HGNC:14540 WNT1 gene WNT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XV, 615220 (3) 23499310 False 3 0;0;0 1.1566 True ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10B gene WNT10B Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6, 225300 (3) False 3 0;0;0 1.1566 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT7A gene WNT7A Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Fuhrmann syndrome MIM#228930;Ulna and fibula, absence of, with severe limb deficiency MIM#276820 16826533;23922166;28855715 False 3 100;0;0 1.1566 True ENSG00000154764 ENSG00000154764 HGNC:12786 WRAP53 gene WRAP53 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, 613988 (3) False 3 0;0;0 1.1566 False ENSG00000141499 ENSG00000141499 HGNC:25522 WRN gene WRN Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Werner syndrome, MIM#277700 8968742;20301687 False 3 50;50;0 1.1566 True ENSG00000165392 ENSG00000165392 HGNC:12791 WWOX gene WWOX Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322;Developmental and epileptic encephalopathy 28, MIM# 616211 33916893 False 3 100;0;0 1.1566 True ENSG00000186153 ENSG00000186153 HGNC:12799 XIAP gene XIAP Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndorme, X-linked, 2 MIM#300635 22228567;20489057;17080092;24942515;25943627 False 3 100;0;0 1.1566 True ENSG00000101966 ENSG00000101966 HGNC:592 XPA gene XPA Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A , MIM#278700 False 3 100;0;0 1.1566 True ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 (3) False 3 0;0;0 1.1566 False ENSG00000154767 ENSG00000154767 HGNC:12816 XRCC4 gene XRCC4 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, MIM#615777 30554721;24581741;23982343;39273648 False 3 100;0;0 1.1566 True ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome, 605822 (3), Autosomal recessive False 3 0;0;0 1.1566 False ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) 24430573;24344687;32183361 False 3 100;0;0 1.1566 True ENSG00000139131 ENSG00000139131 HGNC:24249 ZAP70 gene ZAP70 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006;Immunodeficiency 48 MIM#269840 8124727;8202712;11412303;26783323;33628209;33531381 False 3 100;0;0 1.1566 True ENSG00000115085 ENSG00000115085 HGNC:12858 ZBTB24 gene ZBTB24 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) False 3 100;0;0 1.1566 False ENSG00000112365 ENSG00000112365 HGNC:21143 ZC4H2 gene ZC4H2 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Wieacker-Wolff syndrome MIM#314580 31206972;37010288 False 3 100;0;0 1.1566 True ENSG00000126970 ENSG00000126970 HGNC:24931 ZDHHC9 gene ZDHHC9 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Syndromic X-linked intellectual disability, Raymond type MIM#300799 MONDO:0010427 26000327;29681091;28687527 False 3 100;0;0 1.1566 True ENSG00000188706 ENSG00000188706 HGNC:18475 ZFYVE26 gene ZFYVE26 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, 270700 (3) 34057829;33033739 False 3 100;0;0 1.1566 True ENSG00000072121 ENSG00000072121 HGNC:20761 ZIC3 gene ZIC3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3) False 3 100;0;0 1.1566 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMPSTE24 gene ZMPSTE24 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612;Restrictive dermopathy, lethal, MIM# 275210 11923874;22718200;29794150;29208544;12913070;27410998;27409638;15937076;16671095;22718200;29794150;24169522 False 3 100;0;0 1.1566 True ENSG00000084073 ENSG00000084073 HGNC:12877 ZMYND10 gene ZMYND10 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22 (MIM#615444) 23891471;23891469 False 3 100;0;0 1.1566 True ENSG00000004838 ENSG00000004838 HGNC:19412 ZNF335 gene ZNF335 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 10, primary, autosomal recessive False 3 0;0;0 1.1566 False ENSG00000198026 ENSG00000198026 HGNC:15807 ZNF711 gene ZNF711 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 97, MIM# 300803 False 3 100;0;0 1.1566 True ENSG00000147180 ENSG00000147180 HGNC:13128 ZNHIT3 gene ZNHIT3 Expert Review Green;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal PEHO syndrome, 260565 (3), Autosomal recessive False 3 100;0;0 1.1566 False ENSG00000108278 ENSG00000273611 HGNC:12309 ADPRHL2 gene ADPRHL2 Expert Review;Expert Review Amber Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170 30401461;30100084 False 2 50;50;0 1.1566 True ENSG00000116863 ENSG00000116863 HGNC:21304 AFF2 gene AFF2 Expert Review;Expert Review Amber Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked, FRAXE type 309548 35431806;8334699;21739600;22773736 False 2 0;100;0 1.1566 True ENSG00000155966 ENSG00000155966 HGNC:3776 AIRE gene AIRE Expert Review Amber;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300) 35521792;28323927;33352647 False 2 0;100;0 1.1566 True ENSG00000160224 ENSG00000160224 HGNC:360 B9D1 gene B9D1 Expert Review Amber;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 27, MIM# 617120;Meckel syndrome 9, MIM# 614209 21493627;24886560;25920555;32622957 False 2 0;100;0 1.1566 True ENSG00000108641 ENSG00000108641 HGNC:24123 BTD gene BTD Expert Review Amber;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency (MIM#253260) 16435182;20301497;32440248 False 2 0;33;67 1.1566 True ENSG00000169814 ENSG00000169814 HGNC:1122 CERKL gene CERKL Expert Review Amber;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 26 (MIM#608380) 33322828 False 2 0;100;0 1.1566 True ENSG00000188452 ENSG00000188452 HGNC:21699 CNGA3 gene CNGA3 Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Achromatopsia-2, 216900 (3) 11536077;35332618 False 2 0;67;33 1.1566 True ENSG00000144191 ENSG00000144191 HGNC:2150 DYNC1I2 gene DYNC1I2 Expert Review;Expert Review Amber Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492" 31079899 False 2 100;0;0 1.1566 True ENSG00000077380 ENSG00000077380 HGNC:2964 ERBB3 gene ERBB3 Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Visceral neuropathy, familial, 1, autosomal recessive MIM#243180 17701904;31752936;33497358;12548738;38009810 False 2 0;100;0 1.1566 True ENSG00000065361 ENSG00000065361 HGNC:3431 F5 gene F5 Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Factor V deficiency, 227400 (3) False 2 0;67;33 1.1566 True ENSG00000198734 ENSG00000198734 HGNC:3542 GBA gene GBA Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, 608013 (3) 28727984 False 2 0;100;0 1.1566 True ENSG00000177628 ENSG00000177628 HGNC:4177 IGHM gene IGHM Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 1, 601495 (3) 12370281;8890099 False 2 0;100;0 1.1566 True ENSG00000211899 ENSG00000211899 HGNC:5541 IKBKG gene IKBKG Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3) False 2 0;100;0 1.1566 True ENSG00000073009 ENSG00000269335 HGNC:5961 MBTPS1 gene MBTPS1 Expert Review;Expert Review Amber;Literature Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal ?Spondyloepiphyseal dysplasia, Kondo-Fu type, MIM #618392 32857899;30046013;32420688 False 2 100;0;0 1.1566 True ENSG00000140943 ENSG00000140943 HGNC:15456 MOGS gene MOGS Expert Review;Expert Review Amber Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 31925597;30587846;33058492;38498292;33261925 False 2 100;0;0 1.1566 True ENSG00000115275 ENSG00000115275 HGNC:24862 NCF1 gene NCF1 Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 1, autosomal recessive (MIM#233700) 30651282;23688784 False 2 0;100;0 1.1566 True ENSG00000158517 ENSG00000158517 HGNC:7660 NTNG2 gene NTNG2 Expert Review;Expert Review Amber Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718 31692205;31668703 False 2 100;0;0 1.1566 True ENSG00000196358 ENSG00000196358 HGNC:14288 PIP5K1C gene PIP5K1C Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 3, 611369 (3) 17701898;38491417 False 2 0;50;50 1.1566 True ENSG00000186111 ENSG00000186111 HGNC:8996 POLA1 gene POLA1 Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220;Van Esch-O'Driscoll syndrome, MIM #301030 27019227;31006512 False 2 100;0;0 1.1566 True ENSG00000101868 ENSG00000101868 HGNC:9173 RPGR gene RPGR Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 3 (MIM#300029) 12657579;30193314 False 2 0;100;0 1.1566 True ENSG00000156313 ENSG00000156313 HGNC:10295 SHOX gene SHOX Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening Other Langer mesomelic dysplasia, 249700 (3) False 2 0;100;0 1.1566 True ENSG00000185960 ENSG00000185960 HGNC:10853 TMEM94 gene TMEM94 Expert list;Expert Review Amber Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316 30526868 False 2 100;0;0 1.1566 False ENSG00000177728 ENSG00000177728 HGNC:28983 TTN gene TTN Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) False 2 0;100;0 1.1566 True ENSG00000155657 ENSG00000155657 HGNC:12403 VWF gene VWF Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3) False 2 0;100;0 1.1566 True ENSG00000110799 ENSG00000110799 HGNC:12726 XPNPEP3 gene XPNPEP3 Expert Review Amber;Mackenzie's Mission Prepair 1000+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, 613159 (3) False 2 0;0;0 1.1566 False ENSG00000196236 ENSG00000196236 HGNC:28052 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