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 500+ Screening BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, 231550 (3) False 3 100;0;0 2.1 True ENSG00000094914 ENSG00000094914 HGNC:13666 AARS2 gene AARS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096 (3) False 3 100;0;0 2.1 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABCA12 gene ABCA12 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 4A, 601277 (3) False 3 100;0;0 2.1 True ENSG00000144452 ENSG00000144452 HGNC:14637 ABCA3 gene ABCA3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3) False 3 100;0;0 2.1 True ENSG00000167972 ENSG00000167972 HGNC:33 ABCB11 gene ABCB11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2, 601847 (3) False 3 100;0;0 2.1 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3, 602347 (3) False 3 100;0;0 2.1 True ENSG00000005471 ENSG00000005471 HGNC:45 ABCC8 gene ABCC8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) False 3 100;0;0 2.1 True ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, 300100 (3) False 3 100;0;0 2.1 True ENSG00000101986 ENSG00000101986 HGNC:61 ACAD9 gene ACAD9 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20 (MIM#611126) 30025539;26475292 False 3 100;0;0 2.1 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review;Expert Review Green Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450 9158144 False 3 100;0;0 2.1 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency (MIM#201475) False 3 100;0;0 2.1 True ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM#203750 17236799;1715688 False 3 100;0;0 2.1 True ENSG00000075239 ENSG00000075239 HGNC:93 ACOX1 gene ACOX1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM#264470 32169171;17458872 False 3 100;0;0 2.1 True ENSG00000161533 ENSG00000161533 HGNC:119 ADA gene ADA Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000196839 ENSG00000196839 HGNC:186 ADAMTS2 gene ADAMTS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410) 30071989;26765342;28306229 False 3 100;0;0 2.1 True ENSG00000087116 ENSG00000087116 HGNC:218 ADAR gene ADAR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM#615010 False 3 100;0;0 2.1 True ENSG00000160710 ENSG00000160710 HGNC:225 ADGRG1 gene ADGRG1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM#606854 16240336;33299078 False 3 100;0;0 2.1 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRV1 gene ADGRV1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, MIM# 605472 19357117 False 3 100;0;0 2.1 True ENSG00000164199 ENSG00000164199 HGNC:17416 ADSL gene ADSL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency MIM#103050 25112391;1302001;22180458;18524658 False 3 100;0;0 2.1 True ENSG00000239900 ENSG00000239900 HGNC:291 AGA gene AGA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM# 208400, MONDO:0008830 1703489;1904874;8064811;8946839 False 3 100;0;0 2.1 True ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, MIM#212350 False 3 100;0;0 2.1 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa and IIIb, MIM#232400 26885414;20301788;35834487;27106217 False 3 100;0;0 2.1 True ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121 9553082;8611652;21990100 False 3 100;0;0 2.1 True ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1 MIM #259900 2039493;19479957;33789010 False 3 100;0;0 2.1 True ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3 MIM#608629 16155189;20301500;28442542 False 3 100;0;0 2.1 True ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, 300816;Cowchock syndrome, 310490;Deafness, X-linked 5, 300614;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 20362274;22019070;26173962;31523922;31783324;28299359;25934856;28842795;28842795 False 3 100;0;0 2.1 True ENSG00000156709 ENSG00000156709 HGNC:8768 AIPL1 gene AIPL1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 4, 604393;Cone-rod dystrophy, 604393;Retinitis pigmentosa, juvenile, 604393 33067476 False 3 100;0;0 2.1 True ENSG00000129221 ENSG00000129221 HGNC:359 AK2 gene AK2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis MIM# 267500 19043416;19043417 False 3 100;0;0 2.1 True ENSG00000004455 ENSG00000004455 HGNC:362 ALDH18A1 gene ALDH18A1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome (MIM#270200) False 3 100;0;0 2.1 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH5A1 gene ALDH5A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 9683595;14635103;32402538;32887777 False 3 100;0;0 2.1 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDOB gene ALDOB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 3083321 False 3 100;0;0 2.1 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik, MIM# 608540 26931382;24157261;14973782 False 3 100;0;0 2.1 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG3 gene ALG3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, MIM#601110 31067009;10581255;15840742 False 3 100;0;0 2.1 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic, MIM#603147 27498540 False 3 100;0;0 2.1 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALMS1 gene ALMS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 False 3 100;0;0 2.1 True ENSG00000116127 ENSG00000116127 HGNC:428 ALPL gene ALPL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, childhood (MIM#241510);Hypophosphatasia, infantile (MIM#241500) 19500388;23688511;32029969;24569605 False 3 100;0;0 2.1 True ENSG00000162551 ENSG00000162551 HGNC:438 AMPD2 gene AMPD2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 9, MIM#615809 23911318 False 3 100;0;0 2.1 True ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#620398 16450403;27362913;16450403;30350008;26179960;20301531;25231368;35646099 False 3 100;0;0 2.1 True ENSG00000145020 ENSG00000145020 HGNC:473 AP1S2 gene AP1S2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 30714330;23756445;17186471 False 3 100;0;0 2.1 True ENSG00000182287 ENSG00000182287 HGNC:560 AQP2 gene AQP2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic, type 2 MIM# 125800 7537761;11536078 False 3 100;0;0 2.1 True ENSG00000167580 ENSG00000167580 HGNC:634 ARG1 gene ARG1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Argininemia MIM# 207800 26467175;2365823;1598908;29726057 False 3 100;0;0 2.1 True ENSG00000118520 ENSG00000118520 HGNC:663 ARL13B gene ARL13B Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, MIM# 612291 38219074;18674751;25138100;26092869;27894351;29255182 False 3 100;0;0 2.1 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 15258860;32361989;31888296;25402481;31736247;19858128 False 3 100;0;0 2.1 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARSA gene ARSA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100 25987178;23348427;33195324 False 3 100;0;0 2.1 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200 11668612;31142378 False 3 100;0;0 2.1 True ENSG00000113273 ENSG00000113273 HGNC:714 ARX gene ARX Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 1 MIM#308350;Hydranencephaly with abnormal genitalia MIM#300215;Lissencephaly, X-linked 2 MIM#300215;Intellectual disability, X-linked 29 and others MIM#300419;Partington syndrome MIM#309510;Proud syndrome MIM#300004 14722918;12379852;19738637;32519823;28150386 False 3 100;0;0 2.1 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASL gene ASL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria MIM#207900 2263616;12384776 False 3 100;0;0 2.1 True ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency, MIM#615574 24139043;27469131;29375865;28776279 False 3 100;0;0 2.1 True ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Canavan disease MIM#271900 22750302;20301412 False 3 100;0;0 2.1 True ENSG00000108381 ENSG00000108381 HGNC:756 ASPM gene ASPM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 5, primary, autosomal recessive (MIM#608716) 18452193;19332161;19770472;27250695;29243349 False 3 100;0;0 2.1 True ENSG00000066279 ENSG00000066279 HGNC:19048 ASS1 gene ASS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Citrullinaemia (MIM# 215700) 25135652;15334737 False 3 100;0;0 2.1 True ENSG00000130707 ENSG00000130707 HGNC:758 ATM gene ATM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM# 208900 30137827 False 3 100;0;0 2.1 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP6V1B1 gene ATP6V1B1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 False 3 100;0;0 2.1 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP7A gene ATP7A Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Wilson disease (MIM#277900) 28433102;35042319;8298639;9554743;10790207;7626145;16133174;28433102 False 3 100;0;0 2.1 True ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1, MIM#211600 False 3 100;0;0 2.1 True ENSG00000081923 ENSG00000081923 HGNC:3706 ATR gene ATR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1(MIM#210600) 12640452;19620979;30199583;23111928;23111928 False 3 100;0;0 2.1 True ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519 16813605;16955409;15350606;23681356 False 3 100;0;0 2.1 True ENSG00000085224 ENSG00000085224 HGNC:886 AUH gene AUH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, MIM# 250950;MONDO:0009610 12434311;16354225;20855850;21840233 False 3 100;0;0 2.1 True ENSG00000148090 ENSG00000148090 HGNC:890 B3GLCT gene B3GLCT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome (MIM#261540) 23161355;18798333;19796186;32533185;32204707;31795264;20301637;16909395 False 3 100;0;0 2.1 True ENSG00000187676 ENSG00000187676 HGNC:20207 BBS1 gene BBS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 20177705;15637713 False 3 100;0;0 2.1 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10 (MIM#615987) 36340607 False 3 100;0;0 2.1 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM#615989 False 3 100;0;0 2.1 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM#615981 False 3 100;0;0 2.1 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982 False 3 100;0;0 2.1 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 19252258;15137946;10053027;15637713 False 3 100;0;0 2.1 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 12567324;21937992;19797195 False 3 100;0;0 2.1 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9 MIM#615986 33771153;31283077 False 3 100;0;0 2.1 True ENSG00000122507 ENSG00000122507 HGNC:30000 BCKDHA gene BCKDHA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia, MIM# 248600 7883996;7672509;34288399 False 3 100;0;0 2.1 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib 620698 20301495;34883003;34556729;34288399 False 3 100;0;0 2.1 True ENSG00000083123 ENSG00000083123 HGNC:987 BCS1L gene BCS1L Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000074582 ENSG00000074582 HGNC:1020 BLM gene BLM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome MIM# 210900 17407155;9285778;7585968;8079989;12242442;11101838 False 3 100;0;0 2.1 True ENSG00000197299 ENSG00000197299 HGNC:1058 BRAT1 gene BRAT1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000106009 ENSG00000106009 HGNC:21701 BRWD3 gene BRWD3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 93 MIM#300659 17668385;30628072;24462886 False 3 100;0;0 2.1 True ENSG00000165288 ENSG00000165288 HGNC:17342 BSND gene BSND Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a MIM#602522 11687798;19646679;16572343 False 3 100;0;0 2.1 True ENSG00000162399 ENSG00000162399 HGNC:16512 BTK gene BTK Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000010671 ENSG00000010671 HGNC:1133 C5orf42 gene C5orf42 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615;Orofaciodigital syndrome VI, MIM# 277170 22425360;24178751 False 3 100;0;0 2.1 True ENSG00000197603 ENSG00000197603 HGNC:25801 CANT1 gene CANT1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, MIM# 251450;Epiphyseal dysplasia, multiple, 7, MIM# 617719 19853239;21037275;28742282 False 3 100;0;0 2.1 True ENSG00000171302 ENSG00000171302 HGNC:19721 CAPN3 gene CAPN3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM#253600 31937337;28881388;32342993 False 3 100;0;0 2.1 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASK gene CASK Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked syndromic intellectual disability MONDO:0020119 21954287;12522552;19377476;20029458;28139025;28944139 False 3 100;0;0 2.1 True ENSG00000147044 ENSG00000147044 HGNC:1497 CASQ2 gene CASQ2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938) 34012068 False 3 50;50;0 2.1 True ENSG00000118729 ENSG00000118729 HGNC:1513 CC2D1A gene CC2D1A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 3, MIM# 608443 25066123 False 3 100;0;0 2.1 True ENSG00000132024 ENSG00000132024 HGNC:30237 CC2D2A gene CC2D2A Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphoedema syndrome 1 MIM#235510 19935664;19911200;19287381;25925991;27345729;21778431 False 3 100;0;0 2.1 True ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC103 gene CCDC103 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia-17, MIM # 614679 22581229;32447765;31858719;28790179 False 3 100;0;0 2.1 True ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC39 gene CCDC39 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14 MIM#613807 21131972 False 3 100;0;0 2.1 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC88C gene CCDC88C Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hydrocephalus, congenital, 1 MIM#236600 34092257;29341397;23042809;21031079 False 3 100;0;0 2.1 True ENSG00000015133 ENSG00000015133 HGNC:19967 CD3D gene CD3D Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 19, severe combined MIM# 615617 False 3 100;0;0 2.1 True ENSG00000167286 ENSG00000167286 HGNC:1673 CD40 gene CD40 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3, MIM# 606843 False 3 100;0;0 2.1 True ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 7679801;7679206;8094231;9933119;15358621;15997875;7678782;7915248;15367912;7518839;16311023;9933119;12402041;7882172;33475257 False 3 100;0;0 2.1 True ENSG00000102245 ENSG00000102245 HGNC:11935 CDH23 gene CDH23 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D (MIM#601067) 33316915 False 3 100;0;0 2.1 True ENSG00000107736 ENSG00000107736 HGNC:13733 CENPJ gene CENPJ Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 6, primary MIM#608393;Seckel syndrome 4 MIM#613676 36334884 False 3 100;0;0 2.1 True ENSG00000151849 ENSG00000151849 HGNC:17272 CEP152 gene CEP152 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP290 gene CEP290 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal CEP290-related ciliopathy MONDO:0100451;Bardet-Biedl syndrome 14, MIM# 615991;Joubert syndrome 5 610188;Leber congenital amaurosis 10, MIM# 611755;Meckel syndrome 4, MIM# 611134;Senior-Loken syndrome 6, MIM# 610189 17345604;16909394;24807808;16682970;16682973;27434533;20690115;32208788 False 3 100;0;0 2.1 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 22246503;36580738 False 3 100;0;0 2.1 True ENSG00000106477 ENSG00000106477 HGNC:12370 CFTR gene CFTR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM#219700;MONDO:0009061 31199594;19092437;38153325;26708955;32172939 False 3 100;0;0 2.1 True ENSG00000001626 ENSG00000001626 HGNC:1884 CHAT gene CHAT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 6, presynaptic MIM#254210 11172068;12756141;31192527;29518833;29189923 False 3 100;0;0 2.1 True ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNE gene CHRNE Expert Review Green;Mackenzie's Mission Prepair 500+ 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 20301347 False 3 100;0;0 2.1 True ENSG00000108556 ENSG00000108556 HGNC:1966 CHRNG gene CHRNG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Escobar syndrome (MIM# 265000);Multiple pterygium syndrome, lethal type, (MIM# 253290) 16826520;16826531;22167768 False 3 100;0;0 2.1 True ENSG00000196811 ENSG00000196811 HGNC:1967 CIITA gene CIITA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal MHC class II deficiency 1 MIM#209920 8402893;9099848;11862382;28676232;24789686;20197681;11466404;15821736;12910265 False 3 100;0;0 2.1 True ENSG00000179583 ENSG00000179583 HGNC:7067 CKAP2L gene CKAP2L Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Filippi syndrome MIM#272440 25439729;33913579;29473684 False 3 100;0;0 2.1 True ENSG00000169607 ENSG00000169607 HGNC:26877 CLCN5 gene CLCN5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease, MIM#300009 False 3 100;0;0 2.1 True ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN7 gene CLCN7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, MIM#611490 19507210;11207362;11741829;14584882;19953639 False 3 100;0;0 2.1 True ENSG00000103249 ENSG00000103249 HGNC:2025 CLN5 gene CLN5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM# 256731;MONDO:0009745 False 3 100;0;0 2.1 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal 6, MIM#601780 30561534 False 3 100;0;0 2.1 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 False 3 100;0;0 2.1 True ENSG00000182372 ENSG00000182372 HGNC:2079 CLP1 gene CLP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 10 MIM#615803 24766809;24766810;23474986;29307788 False 3 100;0;0 2.1 True ENSG00000172409 ENSG00000172409 HGNC:16999 CLPB gene CLPB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271) 34140661 False 3 100;0;0 2.1 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLRN1 gene CLRN1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 3A, MIM#276902 23304067;35481838 False 3 100;0;0 2.1 True ENSG00000163646 ENSG00000163646 HGNC:12605 CNGB3 gene CNGB3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3 MIM#262300 17265047;28795510;12140185;28795510 False 3 100;0;0 2.1 True ENSG00000170289 ENSG00000170289 HGNC:2153 COL11A2 gene COL11A2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 53 MIM#609706;Fibrochondrogenesis 2 MIM#614524;Otospondylomegaepiphyseal dysplasia, autosomal recessive MIM#215150 10581026;25633957;16033917;25240749;22796475;20112039 False 3 100;0;0 2.1 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL17A1 gene COL17A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787 20301304;21357940 False 3 100;0;0 2.1 True ENSG00000065618 ENSG00000065618 HGNC:2194 COL18A1 gene COL18A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1 MIM#267750 27259167;25456301;30007336 False 3 100;0;0 2.1 True ENSG00000182871 ENSG00000182871 HGNC:2195 COL27A1 gene COL27A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Steel syndrome (MIM#615155) 32360765;33963180 False 3 100;0;0 2.1 True ENSG00000196739 ENSG00000196739 HGNC:22986 COL4A3 gene COL4A3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome 3b, autosomal recessive MIM#620536;MONDO:0957811 24052634;35419377;39071776 False 3 100;0;0 2.1 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive MIM# 203780 20301386 False 3 100;0;0 2.1 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL6A1 gene COL6A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 1A MIM#254090 20301676;25535305;15955946;23738969;29277723;24443028 False 3 100;0;0 2.1 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL7A1 gene COL7A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa dystrophica inversa MIM#226600;Epidermolysis bullosa dystrophica, autosomal recessive MIM#226600;Epidermolysis bullosa dystrophica, localisata variant MIM#226600;Epidermolysis bullosa pruriginosa MIM#604129 31670143;32506467;25639640 False 3 100;0;0 2.1 True ENSG00000114270 ENSG00000114270 HGNC:2214 COLEC11 gene COLEC11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 2, MIM# 265050;MONDO:0009927 21258343;26789649;28301481 False 3 100;0;0 2.1 True ENSG00000118004 ENSG00000118004 HGNC:17213 COLQ gene COLQ Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000206561 ENSG00000206561 HGNC:2226 COX15 gene COX15 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119 15235026;12474143;32232962 False 3 100;0;0 2.1 True ENSG00000014919 ENSG00000014919 HGNC:2263 CPS1 gene CPS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency MIM#237300 8486760;17310273;21120950;9862865;29801986;27834067;27150549;22173106 False 3 100;0;0 2.1 True ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, MIM#255120 12189492;25778941;23430932 False 3 100;0;0 2.1 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile MIM#600649;CPT II deficiency, lethal neonatal MIM#608836 32295037 False 3 100;0;0 2.1 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRB1 gene CRB1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 8, MIM#613835 11231775;11389483;16543197 False 3 100;0;0 2.1 True ENSG00000134376 ENSG00000134376 HGNC:2343 CRTAP gene CRTAP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII MIM#610682 21955071;19846465;17192541 False 3 100;0;0 2.1 True ENSG00000170275 ENSG00000170275 HGNC:2379 CSPP1 gene CSPP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21 MIM#615636;MONDO:0014288 24360808;24360803;24360807;25997910 False 3 100;0;0 2.1 True ENSG00000104218 ENSG00000104218 HGNC:26193 CTNS gene CTNS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic MIM#219800 26523297;20301574;25165189;9537412;10625078;30554218;12370309 False 3 100;0;0 2.1 True ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome MIM#245010;Papillon-Lefevre syndrome MIM#245000 False 3 50;50;0 2.1 True ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 False 3 100;0;0 2.1 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis MIM#265800 33151655 False 3 100;0;0 2.1 True ENSG00000143387 ENSG00000143387 HGNC:2536 CUL4B gene CUL4B Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000158290 ENSG00000158290 HGNC:2555 CYBA gene CYBA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 4 MIM#233690 22876374 False 3 100;0;0 2.1 True ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease, X-linked, MIM#306400 2556453;1710153;9585602 False 3 100;0;0 2.1 True ENSG00000165168 ENSG00000165168 HGNC:2578 CYP11A1 gene CYP11A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743 12161514;16705068;18182448;28425981 False 3 100;0;0 2.1 True ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B2 gene CYP11B2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency MIM#203400;Hypoaldosteronism, congenital, due to CMO II deficiency MIM#610600 8439335;9360501;15240589;9814506;12788848;8772616 False 3 100;0;0 2.1 True ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110 2843762;14671162;2026124;35178494;35043964 False 3 100;0;0 2.1 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP1B1 gene CYP1B1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Anterior segment dysgenesis 6, multiple subtypes, MIM#617315 9463332;10655546;12372064;21081970 False 3 100;0;0 2.1 True ENSG00000138061 ENSG00000138061 HGNC:2597 CYP27A1 gene CYP27A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, MIM#213700 False 3 100;0;0 2.1 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3, MIM#613812;Spastic paraplegia 5A, MIM#270800 9802883;18252231;31337596;18252231 False 3 100;0;0 2.1 True ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria, MIM#600721 15609246;16081310;31349060;20020533;38825343 False 3 100;0;0 2.1 True ENSG00000180902 ENSG00000180902 HGNC:28358 DBT gene DBT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II, MIM#248600 False 3 100;0;0 2.1 True ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF17 gene DCAF17 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome MIM#241080 28542792;38320940;30409855;35876063 False 3 100;0;0 2.1 True ENSG00000115827 ENSG00000115827 HGNC:25784 DCLRE1C gene DCLRE1C Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000152457 ENSG00000152457 HGNC:17642 DCX gene DCX Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDC gene DDC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency MIM#608643;Aromatic L-amino acid decarboxylase deficiency (MIM#608643) False 3 100;0;0 2.1 True ENSG00000132437 ENSG00000132437 HGNC:2719 DDX11 gene DDX11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome MIM#613398 30216658 False 3 100;0;0 2.1 True ENSG00000013573 ENSG00000013573 HGNC:2736 DGAT1 gene DGAT1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Diarrhoea 7, protein-losing enteropathy type, MIM# 615863;congenital diarrhea 7 with exudative enteropathy MONDO:0014375 33261563;32786057;31778854;28373485;29604290;31778854 False 3 100;0;0 2.1 True ENSG00000185000 ENSG00000185000 HGNC:2843 DGUOK gene DGUOK Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880;Portal hypertension, noncirrhotic, 1, MIM# 617068;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 12874104;15887277;23043144 False 3 100;0;0 2.1 True ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, MIM#602398 33524375;21671375;12457401;29175559;21559050;29175559;11519011;24961299 False 3 100;0;0 2.1 True ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome (MIM#270400) 16906538;10602371;10677299 False 3 100;0;0 2.1 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1bb, MIM# 621567 27343064;21295282 False 3 100;0;0 2.1 True ENSG00000117682 ENSG00000117682 HGNC:20603 DIS3L2 gene DIS3L2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Perlman syndrome MIM# 267000 22306653;28328139;29950491 False 3 100;0;0 2.1 True ENSG00000144535 ENSG00000144535 HGNC:28648 DKC1 gene DKC1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked MIM#305000 20301779 False 3 0;0;0 2.1 True ENSG00000130826 ENSG00000130826 HGNC:2890 DLD gene DLD Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency (MIM#246900) 39040027 False 3 100;0;0 2.1 True ENSG00000091140 ENSG00000091140 HGNC:2898 DLG3 gene DLG3 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000082458 ENSG00000082458 HGNC:2902 DLL3 gene DLL3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300;MONDO:0020692 10742114;12746394;36506336 False 3 100;0;0 2.1 True ENSG00000090932 ENSG00000090932 HGNC:2909 DMD gene DMD Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy MIM#310200 20301298 False 3 100;0;0 2.1 True ENSG00000198947 ENSG00000198947 HGNC:2928 DNAH11 gene DNAH11 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644 16627867;11788826;40033371 False 3 100;0;0 2.1 True ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 18950741 False 3 50;50;0 2.1 True ENSG00000171595 ENSG00000171595 HGNC:18744 DNMT3B gene DNMT3B Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MIM#242860) False 3 100;0;0 2.1 True ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK6 gene DOCK6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 2, MIM# 614219 21820096;23522784;25132448;25824905 False 3 100;0;0 2.1 True ENSG00000130158 ENSG00000130158 HGNC:19189 DOK7 gene DOK7 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000175920 ENSG00000175920 HGNC:26594 DYM gene DYM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dyggve-Melchior-Clausen disease MIM#223800;Smith-McCort dysplasia MIM#607326 16326827;38860472;35477554 False 3 0;0;0 2.1 True ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC2H1 gene DYNC2H1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 19442771;19361615;22499340;23456818;27925158;32753734;31730820;32753734 False 3 100;0;0 2.1 True ENSG00000187240 ENSG00000187240 HGNC:2962 DYSF gene DYSF Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000135636 ENSG00000135636 HGNC:3097 ECHS1 gene ECHS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 32642440 False 3 100;0;0 2.1 True ENSG00000127884 ENSG00000127884 HGNC:3151 EDA gene EDA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100;Tooth agenesis, selective, X-linked 1 MIM#313500 27144394;8696334;9507389;9683615;18657636 False 3 100;0;0 2.1 True ENSG00000158813 ENSG00000158813 HGNC:3157 EIF2AK3 gene EIF2AK3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome MIM#226980 10932183;12960215;16813601;11997520;20202148;11430819 False 3 100;0;0 2.1 True ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B1 gene EIF2B1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896 34745209 False 3 100;0;0 2.1 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313 11835386;19158808;21484434;18263758;25843247;25761052;28904586;28597716 False 3 100;0;0 2.1 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314 11835386;12707859;18263758;25843247;25761052;30014503;39139316 False 3 100;0;0 2.1 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315) 20975056;37674283;25761052 False 3 100;0;0 2.1 True ENSG00000145191 ENSG00000145191 HGNC:3261 ELP1 gene ELP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dysautonomia, familial MIM#223900 11179021;4322121;16777588;30905397 False 3 100;0;0 2.1 True ENSG00000070061 ENSG00000070061 HGNC:5959 EMD gene EMD Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000102119 ENSG00000102119 HGNC:3331 ENPP1 gene ENPP1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000197594 ENSG00000197594 HGNC:3356 EPG5 gene EPG5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Vici syndrome MIM# 242840 23222957;26917586 False 3 100;0;0 2.1 True ENSG00000152223 ENSG00000152223 HGNC:29331 ERCC2 gene ERCC2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC4 gene ERCC4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108;Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215;XFE progeroid syndrome, MIM# 610965 MONDO:0012590 False 3 100;0;0 2.1 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570;MONDO:0014696;Xeroderma pigmentosum, group G, MIM# 278780;MONDO:0010216 7951246;9096355;9096355;24700531;33766032;33219753 False 3 100;0;0 2.1 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506 20301516 False 3 100;0;0 2.1 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM#216400 False 3 100;0;0 2.1 True ENSG00000049167 ENSG00000049167 HGNC:3439 ESCO2 gene ESCO2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Roberts-SC phocomelia syndrome (MIM#268300) 32977150 False 3 100;0;0 2.1 True ENSG00000171320 ENSG00000171320 HGNC:27230 ETFA gene ETFA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, MIM# 231680 31904027 False 3 100;0;0 2.1 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, MIM# 231680 7912128;12815589;27081516;12706375;30626930 False 3 100;0;0 2.1 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, MIM# 231680 31904027 False 3 100;0;0 2.1 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, MIM#602473 14732903;28933811 False 3 100;0;0 2.1 True ENSG00000105755 ENSG00000105755 HGNC:23287 EVC gene EVC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500 23220543 False 3 100;0;0 2.1 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome MIM#225500 23220543;10700184;33050204 False 3 100;0;0 2.1 True ENSG00000173040 ENSG00000173040 HGNC:19747 EXOSC3 gene EXOSC3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, MIM# 614678 22544365;23284067;24524299 False 3 100;0;0 2.1 True ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, MIM#616081 38017281 False 3 100;0;0 2.1 True ENSG00000120699 ENSG00000120699 HGNC:17035 F2 gene F2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hypoprothrombinaemia (MIM#613679) 23852823 False 3 67;33;0 2.1 True ENSG00000180210 ENSG00000180210 HGNC:3535 FAH gene FAH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinaemia, type I, MIM# 276700 8253378;1401056;8364576;8318997;25681080 False 3 100;0;0 2.1 True ENSG00000103876 ENSG00000103876 HGNC:3579 FAM126A gene FAM126A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 5 MIM#610532 16951682;21911699;23998934;22749724 False 3 100;0;0 2.1 True ENSG00000122591 ENSG00000122591 HGNC:24587 FANCA gene FANCA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 False 3 100;0;0 2.1 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM#300514 False 3 100;0;0 2.1 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group C, MIM#227645 29376519;31044565;30792206;28717661 False 3 100;0;0 2.1 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM#227646 20301575;17436244;25703294;23613520 False 3 100;0;0 2.1 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM#600901 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 2.1 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F, MIM#603467 10615118;31288759;20301575 False 3 100;0;0 2.1 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM#614082 9806548;12552564 False 3 100;0;0 2.1 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group I, MIM#609053 17452773;20301575;26590883 False 3 100;0;0 2.1 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group L MIM#614083 19405097;25754594;33394227;33224012;12973351;31513304 False 3 100;0;0 2.1 True ENSG00000115392 ENSG00000115392 HGNC:20748 FAT4 gene FAT4 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000196159 ENSG00000196159 HGNC:23109 FBP1 gene FBP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency, MIM#229700 False 3 100;0;0 2.1 True ENSG00000165140 ENSG00000165140 HGNC:3606 FBXO7 gene FBXO7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, MIM#260300 34396589;20301402;18513678;34781237;19038853 False 3 100;0;0 2.1 True ENSG00000100225 ENSG00000100225 HGNC:13586 FH gene FH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, MIM# 606812 8200987;20549362;31746132;20301679 False 3 100;0;0 2.1 True ENSG00000091483 ENSG00000091483 HGNC:3700 FHL1 gene FHL1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Reducing body myopathy MONDO:0019948;X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 19716112;20186852;20301609;18179901;25274776;34366191;18274675;19181672;21310615;40017287 False 3 100;0;0 2.1 True ENSG00000022267 ENSG00000022267 HGNC:3702 FKBP10 gene FKBP10 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 1, MIM#259450;osteogenesis imperfecta, type XI, MIM#610968 20362275;22718341;22689593;22718341 False 3 100;0;0 2.1 True ENSG00000141756 ENSG00000141756 HGNC:18169 FKRP gene FKRP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153);Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155) 38277301 False 3 100;0;0 2.1 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy MONDO:0018276 9690476;19017726;20301385;28680109;17036286 False 3 0;0;0 2.1 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLNA gene FLNA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 2.1 True ENSG00000196924 ENSG00000196924 HGNC:3754 FMR1 gene FMR1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fragile X syndrome, MIM #300624 20301558;28176767;29178241 False 3 100;0;0 2.1 True ENSG00000102081 ENSG00000102081 HGNC:3775 FOXN1 gene FOXN1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000109101 ENSG00000109101 HGNC:12765 FOXRED1 gene FOXRED1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241 33613441;20858599 False 3 100;0;0 2.1 True ENSG00000110074 ENSG00000110074 HGNC:26927 FRAS1 gene FRAS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1 MIM#219000 12766769;18671281;16894541;17163535 False 3 100;0;0 2.1 True ENSG00000138759 ENSG00000138759 HGNC:19185 FREM2 gene FREM2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome, MIM#219000 15838507;8203166;36720431;33082983 False 3 100;0;0 2.1 True ENSG00000150893 ENSG00000150893 HGNC:25396 FTSJ1 gene FTSJ1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 9 MIM#309549 15342698;18081026;15162322;26310293 False 3 100;0;0 2.1 True ENSG00000068438 ENSG00000068438 HGNC:13254 FUCA1 gene FUCA1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000 False 3 100;0;0 2.1 True ENSG00000179163 ENSG00000179163 HGNC:4006 G6PC gene G6PC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia (MIM# 232200) False 3 100;0;0 2.1 True ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dursun syndrome, MIM# 612541;Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 False 3 100;0;0 2.1 True ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, MIM#232300 25103075;27365701;29880332 False 3 100;0;0 2.1 True ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Krabbe disease, MIM# 245200;MONDO:0009499 20886637;21070211;30899093;24252386 False 3 100;0;0 2.1 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALNS gene GALNS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, MIM#253000 9298823;23137060;18412124 False 3 100;0;0 2.1 True ENSG00000141012 ENSG00000141012 HGNC:4122 GALT gene GALT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Galactosaemia MIM# 230400 False 3 100;0;0 2.1 True ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 (MIM#612736) 33996490;38469086 False 3 100;0;0 2.1 True ENSG00000130005 ENSG00000130005 HGNC:4136 GATM gene GATM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3 MIM#612718;AGAT deficiency MONDO:0012996 11555793;27604308 False 3 100;0;0 2.1 True ENSG00000171766 ENSG00000171766 HGNC:4175 GBE1 gene GBE1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM#232500 False 3 100;0;0 2.1 True ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I, MIM#231670 31788423;37020324 False 3 100;0;0 2.1 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninaemia, MIM#128230 10737119;9667588 False 3 100;0;0 2.1 True ENSG00000131979 ENSG00000131979 HGNC:4193 GDAP1 gene GDAP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM #607706;Charcot-Marie-Tooth disease, recessive intermediate, A, MIM #608340;Charcot-Marie-Tooth disease, type 4A, MIM#214400 20301711;16172208;21753178;21365284;20232219;11743580 False 3 100;0;0 2.1 True ENSG00000104381 ENSG00000104381 HGNC:15968 GDF1 gene GDF1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Right atrial isomerism (Ivemark), MIM #208530 32144877;20413652;28991257 False 3 100;0;0 2.1 True ENSG00000130283 ENSG00000130283 HGNC:4214 GDF5 gene GDF5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia 2A MIM#200700;Acromesomelic dysplasia 2B MIM#228900 33333243;20683927;33872773 False 3 100;0;0 2.1 True ENSG00000125965 ENSG00000125965 HGNC:4220 GFM1 gene GFM1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, MIM#609060 False 3 100;0;0 2.1 True ENSG00000168827 ENSG00000168827 HGNC:13780 GHR gene GHR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Laron dwarfism, MIM#262500 37474955;20583548;31429861 False 3 100;0;0 2.1 True ENSG00000112964 ENSG00000112964 HGNC:4263 GJB1 gene GJB1 Expert Review Green;Literature Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 20301548 False 3 67;33;0 2.1 True ENSG00000169562 ENSG00000169562 HGNC:4283 GLA gene GLA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, MIM#301500 17224688;29649853;26937390;20301469 False 3 100;0;0 2.1 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy1 (MIM#605899) 36817643;34513771 False 3 100;0;0 2.1 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLE1 gene GLE1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital arthrogryposis with anterior horn cell disease, MIM #611890;Lethal congenital contracture syndrome 1, MIM #253310 18204449;22357925;32537934 False 3 100;0;0 2.1 True ENSG00000119392 ENSG00000119392 HGNC:4315 GNB5 gene GNB5 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000069966 ENSG00000069966 HGNC:4401 GNPAT gene GNPAT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765) 9536089;11152660;21990100 False 3 100;0;0 2.1 True ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III alpha/beta MIM#252600;Mucolipidosis II alpha/beta MIM#252500 False 3 100;0;0 2.1 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, MIM# 252605 10712439;19370764:19659762;33507475;33023972;32651481 False 3 100;0;0 2.1 True ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, MIM# 252940;Sanfilippo syndrome type D, MONDO:0009658 31536183 False 3 100;0;0 2.1 True ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum, MIM#231070;MONDO:0009271 19681135;9018419;18348262 False 3 100;0;0 2.1 True ENSG00000120370 ENSG00000120370 HGNC:25676 GPC3 gene GPC3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM #312870 20301398;38766979 False 3 100;0;0 2.1 True ENSG00000147257 ENSG00000147257 HGNC:4451 GPSM2 gene GPSM2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome MIM#604213 20602914;22578326;28387217;27180139;27064331 False 3 100;0;0 2.1 True ENSG00000121957 ENSG00000121957 HGNC:29501 GSS gene GSS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency MIM#266130 False 3 100;0;0 2.1 True ENSG00000100983 ENSG00000100983 HGNC:4624 GUCY2D gene GUCY2D Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 1, MIM #204000 15024725;35314386 False 3 100;0;0 2.1 True ENSG00000132518 ENSG00000132518 HGNC:4689 GUSB gene GUSB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM# 253220 31661765;32063397 False 3 100;0;0 2.1 True ENSG00000169919 ENSG00000169919 HGNC:4696 HADH gene HADH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 1835339;10347277;10931422 False 3 100;0;0 2.1 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency MIM#609016;Mitochondrial trifunctional protein deficiency 1 MIM#609015 False 3 100;0;0 2.1 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2 MIM#620300 False 3 100;0;0 2.1 True ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 2B MIM#613313 12469120;12490283;34828384;15198949 False 3 100;0;0 2.1 True ENSG00000105697 ENSG00000105697 HGNC:15598 HAX1 gene HAX1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, MIM#610738 17187068;18611981 False 3 100;0;0 2.1 True ENSG00000143575 ENSG00000143575 HGNC:16915 HBB gene HBB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Sickle cell anaemia, MIM# 603903 False 3 100;0;0 2.1 True ENSG00000244734 ENSG00000244734 HGNC:4827 HCFC1 gene HCFC1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000172534 ENSG00000172534 HGNC:4839 HEXA gene HEXA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease, MIM#272800 31388111;20301397 False 3 100;0;0 2.1 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800 35711818 False 3 100;0;0 2.1 True ENSG00000049860 ENSG00000049860 HGNC:4879 HFE2 gene HFE2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis, type 2A, MIM#602390 False 3 100;0;0 2.1 True ENSG00000168509 ENSG00000168509 HGNC:4887 HGSNAT gene HGSNAT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930;Retinitis pigmentosa 73, MIM#616544 32770643 False 3 100;0;0 2.1 True ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#250620 33762937 False 3 100;0;0 2.1 True ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency MIM#253270 False 3 100;0;0 2.1 True ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, MIM# 246450 False 3 100;0;0 2.1 True ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, MIM#605911 25778941;9337379;23751782;33045405;32470406;32259399;16601895 False 3 100;0;0 2.1 True ENSG00000134240 ENSG00000134240 HGNC:5008 HPD gene HPD Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinaemia, type III, MIM#276710 10942115;23036342;37817461;28649543;29456978 False 3 50;50;0 2.1 True ENSG00000158104 ENSG00000158104 HGNC:5147 HPRT1 gene HPRT1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome (MIM#300322) 20301328 False 3 100;0;0 2.1 True ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, MIM#203300 8896559;9497254;9705234;27593200;31898847 False 3 100;0;0 2.1 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3 MIM#614072 11455388;31880485;31621111;30990103 False 3 100;0;0 2.1 True ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, MIM #614073 12664304;11836498 False 3 100;0;0 2.1 True ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 MIM#614074 False 3 100;0;0 2.1 True ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6, MIM# 614075 12548288;17041891 False 3 50;50;0 2.1 True ENSG00000166189 ENSG00000166189 HGNC:18817 HSD17B10 gene HSD17B10 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females HSD10 mitochondrial disease, MIM#300438 38841322;22127393 False 3 100;0;0 2.1 True ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, MIM#261515 False 3 100;0;0 2.1 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B2 gene HSD3B2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000203859 ENSG00000203859 HGNC:5218 HUWE1 gene HUWE1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000086758 ENSG00000086758 HGNC:30892 HYLS1 gene HYLS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680);Ciliopathy 15843405;18648327;19400947;19656802;32509774;39626953;26830932 False 3 100;0;0 2.1 True ENSG00000198331 ENSG00000198331 HGNC:26558 IDS gene IDS Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih, MIM#607014 False 3 100;0;0 2.1 True ENSG00000127415 ENSG00000127415 HGNC:5391 IGHMBP2 gene IGHMBP2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000132740 ENSG00000132740 HGNC:5542 IKBKB gene IKBKB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 15, MIM#615592 24369075;25216719;24679846;32117824;2513935 False 3 100;0;0 2.1 True ENSG00000104365 ENSG00000104365 HGNC:5960 IL1RAPL1 gene IL1RAPL1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000169306 ENSG00000169306 HGNC:5996 IL2RG gene IL2RG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe combined immunodeficiency, X-linked, MIM#300400 False 3 100;0;0 2.1 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL7R gene IL7R Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency 104 MIM#608971 False 3 100;0;0 2.1 True ENSG00000168685 ENSG00000168685 HGNC:6024 INPP5E gene INPP5E Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944 19668216;32139166;29230161;29052317;27998989;27401686;19668215;34211432 False 3 100;0;0 2.1 True ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, (MIM#602088) False 3 100;0;0 2.1 True ENSG00000119509 ENSG00000119509 HGNC:17870 IQSEC2 gene IQSEC2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females "Intellectual developmental disorder, X-linked 1 MIM#309530" 33368194;20473311;23674175;31415821;30842726 False 3 100;0;0 2.1 True ENSG00000124313 ENSG00000124313 HGNC:29059 ITGA6 gene ITGA6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817) 27607025;31502654;20301336;9158140;34525201 False 3 100;0;0 2.1 True ENSG00000091409 ENSG00000091409 HGNC:6142 ITGB4 gene ITGB4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730 32017015;11328943;30079450;29380424;29198538;28557647 False 3 100;0;0 2.1 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITPR1 gene ITPR1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Gillespie syndrome, MIM# 206700 27108797;31340402;30242502;29169895 False 3 100;0;0 2.1 True ENSG00000150995 ENSG00000150995 HGNC:6180 IVD gene IVD Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia, MIM #243500 38484105;15486829 False 3 100;0;0 2.1 True ENSG00000128928 ENSG00000128928 HGNC:6186 JAK3 gene JAK3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type MIM#600802 14615376;11668610;7481767;7481769;9354668;7659163;7481768;30032486;9753072 False 3 100;0;0 2.1 True ENSG00000105639 ENSG00000105639 HGNC:6193 KATNB1 gene KATNB1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 6, with microcephaly, MIM#616212 25521378;25521379;26640080 False 3 100;0;0 2.1 True ENSG00000140854 ENSG00000140854 HGNC:6217 KCNJ1 gene KCNJ1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, MIM#241200 False 3 100;0;0 2.1 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ11 gene KCNJ11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 2, MIM#601820 23345197;32252216;9356020 False 3 100;0;0 2.1 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCNQ1 gene KCNQ1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome MIM#220400 29033053;28438721;9020846;29037160;20301579 False 3 67;33;0 2.1 True ENSG00000053918 ENSG00000053918 HGNC:6294 KDM5C gene KDM5C Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type;MIM#300534 15586325;32279304 False 3 100;0;0 2.1 True ENSG00000126012 ENSG00000126012 HGNC:11114 KIF1A gene KIF1A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 30, autosomal recessive, MIM#610357 22258533;21487076 False 3 100;0;0 2.1 True ENSG00000130294 ENSG00000130294 HGNC:888 KIF7 gene KIF7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Al-Gazali-Bakalinova syndrome MIM#607131;Hydrolethalus syndrome 2 MIM#614120;Acrocallosal syndrome MIM#200990;Joubert syndrome 12 MIM#200990 21552264;36580738;21633164;19666503;30445565;26648833;26349186;26174511;25714560 False 3 100;0;0 2.1 True ENSG00000166813 ENSG00000166813 HGNC:30497 KRT14 gene KRT14 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000186847 ENSG00000186847 HGNC:6416 L1CAM gene L1CAM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females MASA syndrome, MIM#303350;Hydrocephalus, congenital, X-linked, MIM#307000 11438988;7920660;8401593;19565280;9279760;11857550;15148591;15368500;22354677 False 3 100;0;0 2.1 True ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, MIM#236792 39262645;10399870 False 3 100;0;0 2.1 True ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA2 gene LAMA2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA3 gene LAMA3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 2B, severe (MIM#619784);3. Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous (MIM#245660);Epidermolysis bullosa, junctional 2A, intermediate (MIM#619783) 7633458;8530087;11810295;10366601 False 3 100;0;0 2.1 True ENSG00000053747 ENSG00000053747 HGNC:6483 LAMB1 gene LAMB1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5 MIM#615191 23472759;25925986;29888467;25925986;32548278;34606115;32548278;34606115 False 3 100;0;0 2.1 True ENSG00000091136 ENSG00000091136 HGNC:6486 LAMB2 gene LAMB2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, MIM# 609049;Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 False 3 100;0;0 2.1 True ENSG00000172037 ENSG00000172037 HGNC:6487 LAMB3 gene LAMB3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 1A, intermediate MIM#226650;Epidermolysis bullosa, junctional 1B, severe MIM#226700 7706760;10577906;17476356;7698759;11023379 False 3 100;0;0 2.1 True ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 3B, severe MIM #619786;Epidermolysis bullosa, junctional 3A, intermediate MIM #619785 32017015;11810295;24533970;20301304 False 3 100;0;0 2.1 True ENSG00000058085 ENSG00000058085 HGNC:6493 LARGE1 gene LARGE1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, MIM #608840 12966029;19067344;21248746;17436019;19299310 False 3 100;0;0 2.1 True ENSG00000133424 ENSG00000133424 HGNC:6511 LARS gene LARS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1, MIM# 615438 False 3 100;0;0 2.1 True ENSG00000133706 ENSG00000133706 HGNC:6512 LCA5 gene LCA5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 5, MIM# 604537 10631161;12642313;17546029 False 3 100;0;0 2.1 True ENSG00000135338 ENSG00000135338 HGNC:31923 LDLR gene LDLR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hypercholesterolaemia, familial, 1, MIM# 143890 False 3 50;50;0 2.1 True ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Familial hypercholesterolemia 4, MIM#603813 4351242 False 3 100;0;0 2.1 True ENSG00000157978 ENSG00000157978 HGNC:18640 LHX3 gene LHX3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (MIM# 221750) 30759489 False 3 100;0;0 2.1 True ENSG00000107187 ENSG00000107187 HGNC:6595 LIFR gene LIFR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#601559 9674905;9674906;14740318;24988918;35663789;20447141;29620724;28334964 False 3 100;0;0 2.1 True ENSG00000113594 ENSG00000113594 HGNC:6597 LIG4 gene LIG4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 16088910;9823897;15333585;9809069;12023982;11040211;15175260;19451691;17554302 False 3 100;0;0 2.1 True ENSG00000174405 ENSG00000174405 HGNC:6601 LIPA gene LIPA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Wolman disease, MIM#620151;Cholesteryl ester storage disease, MIM#278000 28374935;11487567;8617513;21963785 False 3 100;0;0 2.1 True ENSG00000107798 ENSG00000107798 HGNC:6617 LMBRD1 gene LMBRD1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380 19136951 False 3 100;0;0 2.1 True ENSG00000168216 ENSG00000168216 HGNC:23038 LMNA gene LMNA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Restrictive dermopathy, lethal, MIM#275210;Mandibuloacral dysplasia, MIM# 248370 18551513;17377071;15148145 False 3 100;0;0 2.1 True ENSG00000160789 ENSG00000160789 HGNC:6636 LPL gene LPL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lipoprotein lipase deficiency MIM#238600 False 3 100;0;0 2.1 True ENSG00000175445 ENSG00000175445 HGNC:6677 LRAT gene LRAT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, early-onset severe;Leber congenital amaurosis 14;Retinitis pigmentosa, juvenile, all under MIM #613341 11381255;18055821;22570351;29973277;24625443;31448181 False 3 100;0;0 2.1 True ENSG00000121207 ENSG00000121207 HGNC:6685 LRP2 gene LRP2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM #222448 17632512;20301732 False 3 100;0;0 2.1 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRPPRC gene LRPPRC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) 220111 (3) 12529507;12529507;26510951;21266382 False 3 100;0;0 2.1 True ENSG00000138095 ENSG00000138095 HGNC:15714 LYST gene LYST Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome MIM#214500 8896560;9215680;31906877;9215679;26499269;24112114;28145517 False 3 100;0;0 2.1 True ENSG00000143669 ENSG00000143669 HGNC:1968 LZTFL1 gene LZTFL1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000163818 ENSG00000163818 HGNC:6741 MAN2B1 gene MAN2B1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500;MONDO:0009561 False 3 100;0;0 2.1 True ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM#248510 False 3 100;0;0 2.1 True ENSG00000109323 ENSG00000109323 HGNC:6831 MASP1 gene MASP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 3MC syndrome 1, MIM# 257920 26789649;21258343;21035106;16096999 False 3 100;0;0 2.1 True ENSG00000127241 ENSG00000127241 HGNC:6901 MCOLN1 gene MCOLN1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV MIM#252650 33963976;32604955 False 3 100;0;0 2.1 True ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, MIM#251200 20978018;30351297;29026105 False 3 100;0;0 2.1 True ENSG00000147316 ENSG00000147316 HGNC:6954 MECP2 gene MECP2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 2.1 True ENSG00000169057 ENSG00000169057 HGNC:6990 MED12 gene MED12 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females MED12-related intellectual disability syndrome, MONDO:0100000 33244166;32174975;30006928;27312080 False 3 100;0;0 2.1 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED17 gene MED17 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668 30345598;33756211;20950787 False 3 100;0;0 2.1 True ENSG00000042429 ENSG00000042429 HGNC:2375 MESP2 gene MESP2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 2, MIM #608681 18485326;15122512;20301771 False 3 100;0;0 2.1 True ENSG00000188095 ENSG00000188095 HGNC:29659 METTL23 gene METTL23 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 44, MIM #615942 24501276;24626631;39152716;32878022;32439618;32067349 False 3 100;0;0 2.1 True ENSG00000181038 ENSG00000181038 HGNC:26988 MFN2 gene MFN2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800 15064763;15549395;16437557;20008656 False 3 100;0;0 2.1 True ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, MIM# 610951;MONDO:0012588 17564970;19201763;25227500;30382371;35154277 False 3 100;0;0 2.1 True ENSG00000164073 ENSG00000164073 HGNC:28486 MID1 gene MID1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000101871 ENSG00000101871 HGNC:7095 MKKS gene MKKS Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13 MIM#615990;Joubert syndrome 28 MIM#617121;Meckel syndrome 1 MIM#249000;Ciliopathy MONDO:0005308 17377820;24886560;19776033;33193692;27570071;27377014;18327255;24608809 False 3 100;0;0 2.1 True ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004 11254442;18757878;20301707;29661901 False 3 100;0;0 2.1 True ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, MIM#248360 False 3 100;0;0 2.1 True ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 False 3 100;0;0 2.1 True ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110 12471062;24813872;16410054 False 3 100;0;0 2.1 True ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type MIM#277400 20301503 False 3 100;0;0 2.1 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 MIM#277410;Methylmalonic aciduria and homocystinuria, cblD type MIM#277410;Methylmalonic aciduria, cblD type, variant 2 MIM#277410;Disorders of cobalamin absorption, transport and metabolism 33552904 False 3 0;0;0 2.1 True ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A (MIM#252150) 27604308;9731530 False 3 100;0;0 2.1 True ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B (MIM#252160) 10053004;31848698;16021469;30900395 False 3 100;0;0 2.1 True ENSG00000164172 ENSG00000164172 HGNC:7193 MPI gene MPI Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPL gene MPL Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498 17054430;16351641;11133753 False 3 100;0;0 2.1 True ENSG00000117400 ENSG00000117400 HGNC:7217 MPV17 gene MPV17 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810 22508010;26437932;30298599 False 3 100;0;0 2.1 True ENSG00000115204 ENSG00000115204 HGNC:7224 MRE11 gene MRE11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder, MIM#604391 10612394;11371508;15269180;22863007;24332946;21227757 False 3 100;0;0 2.1 True ENSG00000020922 ENSG00000020922 HGNC:7230 MTFMT gene MTFMT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15, MIM#614947 21907147;23499752;24461907;22499348;30911575 False 3 100;0;0 2.1 True ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFR gene MTHFR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency, MIM# 236250 25024447;8456826 False 3 100;0;0 2.1 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTM1 gene MTM1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000171100 ENSG00000171100 HGNC:7448 MTMR2 gene MTMR2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4B1, MIM#601382 False 3 100;0;0 2.1 True ENSG00000087053 ENSG00000087053 HGNC:7450 MTR gene MTR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 8968736;8968737;9683607;12068375 False 3 100;0;0 2.1 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type, MIM #236270 20301503;12555939;15714522;9501215 False 3 100;0;0 2.1 True ENSG00000124275 ENSG00000124275 HGNC:7473 MTTP gene MTTP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinaemia MIM#200100 17275380;34078172;34052173;33258201 False 3 100;0;0 2.1 True ENSG00000138823 ENSG00000138823 HGNC:7467 MUSK gene MUSK Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 1 MIM#208150;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325 25537362;25612909;8653786;31750350;15496425;19949040;20371544;32253145 False 3 100;0;0 2.1 True ENSG00000030304 ENSG00000030304 HGNC:7525 MUT gene MUT Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type, MIM# 251000 False 3 100;0;0 2.1 True ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, MIM#610377;Hyper-IgD syndrome, MIM#260920 27012807;16722536 False 3 100;0;0 2.1 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYO5B gene MYO5B Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000167306 ENSG00000167306 HGNC:7603 MYO7A gene MYO7A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1B, MIM# 276900 29400105;8160750 False 3 100;0;0 2.1 True ENSG00000137474 ENSG00000137474 HGNC:7606 NAGA gene NAGA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Schindler disease, type I MIM#609241;Schindler disease, type III MIM#609241 11313741;31468281;15619430;8782044 False 3 100;0;0 2.1 True ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) MIM#252920 25818867;8650226;14518829;18392742;11668611 False 3 100;0;0 2.1 True ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency MIM#237310 12594532;17421020;12459178;12754705;9877039 False 3 100;0;0 2.1 True ENSG00000161653 ENSG00000161653 HGNC:17996 NALCN gene NALCN Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419) 23749988;24075186;3016785 False 3 100;0;0 2.1 True ENSG00000102452 ENSG00000102452 HGNC:19082 NARS2 gene NARS2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000137513 ENSG00000137513 HGNC:26274 NBN gene NBN Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome (MIM#251260) 33488600;33082212 False 3 100;0;0 2.1 True ENSG00000104320 ENSG00000104320 HGNC:7652 NCF2 gene NCF2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 27178966;7795241;10498624 False 3 100;0;0 2.1 True ENSG00000116701 ENSG00000116701 HGNC:7661 NDE1 gene NDE1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 4 (with microcephaly), MIM#614019 30637988;21529751;34562061 False 3 100;0;0 2.1 True ENSG00000072864 ENSG00000072864 HGNC:17619 NDP gene NDP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, MIM# 310600 23444378;8268931;17325173;27217716;29181528;31827910 False 3 100;0;0 2.1 True ENSG00000124479 ENSG00000124479 HGNC:7678 NDRG1 gene NDRG1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4D MIM#601455 False 3 100;0;0 2.1 True ENSG00000104419 ENSG00000104419 HGNC:7679 NDUFAF2 gene NDUFAF2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 38419071 False 3 100;0;0 2.1 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF5 gene NDUFAF5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16 MIM#618238 False 3 100;0;0 2.1 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFS4 gene NDUFS4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, MIM#252010 False 3 100;0;0 2.1 True ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9 (MIM#618232) 15372108;19259137;30948790 False 3 100;0;0 2.1 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3 MIM#618224 17604671;17275378;10360771;22644603 False 3 100;0;0 2.1 True ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFV1 gene NDUFV1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 34807224 False 3 100;0;0 2.1 True ENSG00000167792 ENSG00000167792 HGNC:7716 NEB gene NEB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 6 (MIM#619334);Nemaline myopathy 2, autosomal recessive (MIM#256030) 27228465;10051637;22367672;26578207;33376055 False 3 67;33;0 2.1 True ENSG00000183091 ENSG00000183091 HGNC:7720 NEU1 gene NEU1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, MIM #256550;Sialidosis, type II, MIM #256550 11063730;8985184;9054950;39194692 False 3 100;0;0 2.1 True ENSG00000204386 ENSG00000204386 HGNC:7758 NGLY1 gene NGLY1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, MIM#615273 24651605;27388694 False 3 100;0;0 2.1 True ENSG00000151092 ENSG00000151092 HGNC:17646 NNT gene NNT Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000112992 ENSG00000112992 HGNC:7863 NPC1 gene NPC1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1, MIM#257220 11333381;26910362;20301473;32138288 False 3 100;0;0 2.1 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, MIM#607625 29625568;17470133 False 3 100;0;0 2.1 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHS1 gene NPHS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1, MIM# 256300;congenital nephrotic syndrome, Finnish type MONDO:0009732 32467597;10972661 False 3 100;0;0 2.1 True ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 MIM#600995 32467597;30260545;24509478;10742096;23242530;24509478;12464671 False 3 100;0;0 2.1 True ENSG00000116218 ENSG00000116218 HGNC:13394 NR0B1 gene NR0B1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenal hypoplasia, congenital, MIM#300200 19508677;26030781 False 3 100;0;0 2.1 True ENSG00000169297 ENSG00000169297 HGNC:7960 NTRK1 gene NTRK1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Insensitivity to pain, congenital, with anhidrosis MIM#256800 10233776;19250380;10861667;10982191;20301726;20089052 False 3 100;0;0 2.1 True ENSG00000198400 ENSG00000198400 HGNC:8031 OCRL gene OCRL Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Joubert syndrome 10 MIM#300804;Simpson-Golabi-Behmel syndrome, type 2 MIM#300209;Retinitis pigmentosa 23 MIM#300424 22619378;31373179;23033313;16783569 False 3 100;0;0 2.1 True ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Behr syndrome, MIM#210000 25012220 False 3 100;0;0 2.1 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486;X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337 12807966;16221952;16221952;29510240;12807966;16158428;25649377;24105372 False 3 100;0;0 2.1 True ENSG00000079482 ENSG00000079482 HGNC:8148 OSGEP gene OSGEP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, MIM# 617729 28805828;28272532 False 3 100;0;0 2.1 True ENSG00000092094 ENSG00000092094 HGNC:18028 OSTM1 gene OSTM1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5, MIM#259720 12627228;15108279;16813530;23772242;32048120 False 3 100;0;0 2.1 True ENSG00000081087 ENSG00000081087 HGNC:21652 OTC gene OTC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ornithine transcarbamylase deficiency, MIM# 311250 26059767;31441224;25135652 False 3 100;0;0 2.1 True ENSG00000036473 ENSG00000036473 HGNC:8512 P3H1 gene P3H1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII, MIM#610915 17277775;19088120;27864101;33737016;18566967 False 3 100;0;0 2.1 True ENSG00000117385 ENSG00000117385 HGNC:19316 PAH gene PAH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, MIM#261600 27604308;3008810;31636599;32141105 False 3 100;0;0 2.1 True ENSG00000171759 ENSG00000171759 HGNC:8582 PAK3 gene PAK3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 30 MIM#300558 9731525;10946356;12884430;17853471;18523455;24556213;25666757;27753653;28481730;28126652 False 3 100;0;0 2.1 True ENSG00000077264 ENSG00000077264 HGNC:8592 PANK2 gene PANK2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal HARP syndrome (MIM#607236);Neurodegeneration with brain iron accumulation 1 (MIM#234200) 15911822 False 3 100;0;0 2.1 True ENSG00000125779 ENSG00000125779 HGNC:15894 PC gene PC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency (MIM#266150) 9585612;12112657;20301764 False 3 100;0;0 2.1 True ENSG00000173599 ENSG00000173599 HGNC:8636 PCCA gene PCCA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Propionicacidaemia, MIM#606054 17966092;10101253;9887338 False 3 100;0;0 2.1 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Propionicacidemia MIM#606054;propionic acidemia MONDO:0011628 7386459;9683601;10502773;35296328 False 3 100;0;0 2.1 True ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH15 gene PCDH15 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1F, MIM# 602083 11398101;11487575;11138007;12782354;16260500;14570705;25930172;28281779 False 3 100;0;0 2.1 True ENSG00000150275 ENSG00000150275 HGNC:14674 PCDH19 gene PCDH19 Expert Review Green;Literature Prepair 500+ 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) 18469813;30287595 False 3 50;50;0 2.1 True ENSG00000165194 ENSG00000165194 HGNC:14270 PCNT gene PCNT Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000160299 ENSG00000160299 HGNC:16068 PDHA1 gene PDHA1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) 28584645;22142326 False 3 67;33;0 2.1 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, MIM #614111 15138885;18164639;26865159;19924563;34138529 False 3 100;0;0 2.1 True ENSG00000168291 ENSG00000168291 HGNC:8808 PEPD gene PEPD Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, MIM# 170100 32455636;19308961;3827281;36757671;16470701 False 3 100;0;0 2.1 True ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 False 3 100;0;0 2.1 True ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1A (Zellweger), MIM #214100;Heimler syndrome 1, MIM #234580;Peroxisome biogenesis disorder 1B (NALD/IRD), MIM #601539;MONDO:0100259 20301621;9398847;17055079 False 3 100;0;0 2.1 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX12 gene PEX12 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger), MIM#614859;Peroxisome biogenesis disorder 3B, MIM#266510 False 3 100;0;0 2.1 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger), MIM#614883;Peroxisome biogenesis disorder 11B, MIM#614885 False 3 100;0;0 2.1 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX16 gene PEX16 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000121680 ENSG00000121680 HGNC:8857 PEX2 gene PEX2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX5 gene PEX5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM#214110 21031596;7719337;26220973;20301621 False 3 100;0;0 2.1 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), MIM# 614862;Peroxisome biogenesis disorder-4B, MIM# 614863 8940266;22894767 False 3 100;0;0 2.1 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, MIM# 614879;Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 11781871;12522768;12325024 False 3 100;0;0 2.1 True ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII MIM#232800 22364848 False 3 100;0;0 2.1 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGAP2 gene PGAP2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207 23561846;23561847;31805394;29119105;27871432 False 3 100;0;0 2.1 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGK1 gene PGK1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency (MIM#300653) 28580215;16567715;22348148;30887539 False 3 100;0;0 2.1 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It (MIM#614921) 24499211;33342467 False 3 100;0;0 2.1 True ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, MIM# 615816 31231132;33098103 False 3 100;0;0 2.1 True ENSG00000013375 ENSG00000013375 HGNC:8907 PHF8 gene PHF8 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000172943 ENSG00000172943 HGNC:20672 PHGDH gene PHGDH Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000092621 ENSG00000092621 HGNC:8923 PHYH gene PHYH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Refsum disease MIM#266500 20301527;9326939;9326940 False 3 100;0;0 2.1 True ENSG00000107537 ENSG00000107537 HGNC:8940 PIBF1 gene PIBF1 Expert Review Green;Literature Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33 (MIM#617767) 26167768;30858804;29695797;33004012 False 3 50;50;0 2.1 True ENSG00000083535 ENSG00000083535 HGNC:23352 PIGG gene PIGG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917" 26996948 False 3 100;0;0 2.1 True ENSG00000174227 ENSG00000174227 HGNC:25985 PIGN gene PIGN Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1,MIM#614080 21493957;24253414;26364997;26394714;33193741;32585529;33528536;38693247;36322149 False 3 100;0;0 2.1 True ENSG00000197563 ENSG00000197563 HGNC:8967 PIGT gene PIGT Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000124155 ENSG00000124155 HGNC:14938 PKHD1 gene PKHD1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease MIM#263200 28375157;21945273 False 3 100;0;0 2.1 True ENSG00000170927 ENSG00000170927 HGNC:9016 PLA2G6 gene PLA2G6 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLOD1 gene PLOD1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, 1, MIM# 225400 34161861;33579342 False 3 100;0;0 2.1 True ENSG00000083444 ENSG00000083444 HGNC:9081 PLP1 gene PLP1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000123560 ENSG00000123560 HGNC:9086 PLPBP gene PLPBP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, early-onset, vitamin B6-dependent, MIM#617290 30668673;31741821 False 3 100;0;0 2.1 True ENSG00000147471 ENSG00000147471 HGNC:9457 PMM2 gene PMM2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia (MIM#212065) False 3 100;0;0 2.1 True ENSG00000140650 ENSG00000140650 HGNC:9115 PNKP gene PNKP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 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 2.1 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPO gene PNPO Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090 34769443;33981986;33748042;32888189;24658933;15772097;31261385;31616300;31759955 False 3 100;0;0 2.1 True ENSG00000108439 ENSG00000108439 HGNC:30260 POLG gene POLG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM#613662 False 3 100;0;0 2.1 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR1C gene POLR1C Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000171453 ENSG00000171453 HGNC:20194 POLR3B gene POLR3B Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381 27512013;23355746;22036171;22036172;25339210;33005949;22855961;33417887 False 3 100;0;0 2.1 True ENSG00000013503 ENSG00000013503 HGNC:30348 POMGNT1 gene POMGNT1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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#61315 27391550;26908613;30961548;30937090 False 3 100;0;0 2.1 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156 17923109;24183756;19299310 False 3 100;0;0 2.1 True ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750) 27604308;20301592;35842891 False 3 100;0;0 2.1 True ENSG00000127948 ENSG00000127948 HGNC:9208 POU1F1 gene POU1F1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, MIM#613038 1472057;15928241;7593413 False 3 100;0;0 2.1 True ENSG00000064835 ENSG00000064835 HGNC:9210 PPT1 gene PPT1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 7637805;9425237;31741823;19793312 False 3 100;0;0 2.1 True ENSG00000131238 ENSG00000131238 HGNC:9325 PQBP1 gene PQBP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome MIM#309500 31840929;14634649;20410308;19661183 False 3 100;0;0 2.1 True ENSG00000102103 ENSG00000102103 HGNC:9330 PRDM5 gene PRDM5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome 2, MIM#614170 14679583;22122778;21664999;8458232;28306229 False 3 100;0;0 2.1 True ENSG00000138738 ENSG00000138738 HGNC:9349 PRF1 gene PRF1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 2 MIM#603553 19595804;26199792;30070073;19487666;26184781;10583959;19487666 False 3 100;0;0 2.1 True ENSG00000180644 ENSG00000180644 HGNC:9360 PROP1 gene PROP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2, MIM#262600 False 3 100;0;0 2.1 True ENSG00000175325 ENSG00000175325 HGNC:9455 PRPS1 gene PRPS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females PRPS1 deficiency disorder MONDO:0100061;Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395 False 3 100;0;0 2.1 True ENSG00000147224 ENSG00000147224 HGNC:9462 PSAP gene PSAP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900;Combined SAP deficiency, MIM #611721;Gaucher disease, atypical, MIM #610539;Krabbe disease, atypical, MIM #611722 10682309;30632081;11309366;19267410;8554069 False 3 100;0;0 2.1 True ENSG00000197746 ENSG00000197746 HGNC:9498 PTS gene PTS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640;BH4-deficient hyperphenylalaninemia A, MONDO:0009863 36583021;36212127;19830588;22237589 False 3 100;0;0 2.1 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUS1 gene PUS1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 2.1 True ENSG00000177192 ENSG00000177192 HGNC:15508 QDPR gene QDPR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninaemia, BH4-deficient, C, MIM# 261630 11153907 False 3 100;0;0 2.1 True ENSG00000151552 ENSG00000151552 HGNC:9752 RAB18 gene RAB18 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 3 MIM#614222 21473985;20512159;23420520;23176487 False 3 100;0;0 2.1 True ENSG00000099246 ENSG00000099246 HGNC:14244 RAB23 gene RAB23 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome MIM#201000 17503333;21412941;23599695;25168863 False 3 100;0;0 2.1 True ENSG00000112210 ENSG00000112210 HGNC:14263 RAB3GAP1 gene RAB3GAP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118;Martsolf syndrome 2, MIM# 619420 15696165;20512159;23420520;30730599 False 3 100;0;0 2.1 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome MONDO:0016649 16532399;20967465;23420520;32740904;32376645;24891604 False 3 100;0;0 2.1 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAG1 gene RAG1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889;Combined cellular and humoral immune defects with granulomas MIM# 233650;Omenn syndrome MIM# 603554;Severe combined immunodeficiency, B cell-negative MIM# 601457 False 3 100;0;0 2.1 True ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Combined cellular and humoral immune defects with granulomas (MIM#233650);Omenn syndrome (MIM#603554);Severe combined immunodeficiency, B cell-negative (MIM#601457) 26996199;30046960 False 3 100;0;0 2.1 True ENSG00000175097 ENSG00000175097 HGNC:9832 RAPSN gene RAPSN Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000165917 ENSG00000165917 HGNC:9863 RARS2 gene RARS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, MIM#611523 38009286;29881806 False 3 100;0;0 2.1 True ENSG00000146282 ENSG00000146282 HGNC:21406 RAX gene RAX Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 16, MIM #611038 14662654;18783408;30811539;24033328;22736936;28831107 False 3 100;0;0 2.1 True ENSG00000134438 ENSG00000134438 HGNC:18662 RBBP8 gene RBBP8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Jawad syndrome MIM#251255;Seckel syndrome 2 MIM#606744 26333564;24440292;21998596;24389050;34270086 False 3 100;0;0 2.1 True ENSG00000101773 ENSG00000101773 HGNC:9891 RDH12 gene RDH12 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13, MIM#612712 31884613;19011012;28471114;34031043;35491887 False 3 100;0;0 2.1 True ENSG00000139988 ENSG00000139988 HGNC:19977 RMND1 gene RMND1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, MIM#614922 27412952 False 3 100;0;0 2.1 True ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia MIM#250250;Anauxetic dysplasia 1, MIM#607095;Metaphyseal dysplasia without hypotrichosis MIM#250460 16244706;21396580;22420014;11940090;16252239 False 3 100;0;0 2.1 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4 MIM#610333;RNASEH2A-related type 1 interferonopathy MONDO:0700259 15870678;25604658;23592335;20301648;29239743;16845400;24183309;35551623 False 3 100;0;0 2.1 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2 MIM#610181 16845400;33307271;29239743 False 3 100;0;0 2.1 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, MIM# 610329 32877590 False 3 100;0;0 2.1 True ENSG00000172922 ENSG00000172922 HGNC:24116 RP2 gene RP2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000102218 ENSG00000102218 HGNC:10274 RPE65 gene RPE65 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 20, MIM#613794;Leber congenital amaurosis 2, MIM#204100 False 3 100;0;0 2.1 True ENSG00000116745 ENSG00000116745 HGNC:10294 RPGRIP1L gene RPGRIP1L Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561;COACH syndrome 3, MIM# 619113;Ciliopathy, RPGRIP1L-related, MONDO:0005308 17558409;17558407;17960139;26071364;19574260;29991045 False 3 100;0;0 2.1 True ENSG00000103494 ENSG00000103494 HGNC:29168 RPS6KA3 gene RPS6KA3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry syndrome, MIM#303600;Intellectual developmental disorder, X-linked 19;MIM#300844 16879200 False 3 100;0;0 2.1 True ENSG00000177189 ENSG00000177189 HGNC:10432 RTEL1 gene RTEL1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5, MIM#615190 23453664 False 3 100;0;0 2.1 True ENSG00000258366 ENSG00000258366 HGNC:15888 RYR1 gene RYR1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Central core disease (MIM#117000);Minicore myopathy with external ophthalmoplegia (MIM#255320);Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725 False 3 33;67;0 2.1 True ENSG00000196218 ENSG00000196218 HGNC:10483 SACS gene SACS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, MIM#270550 10655055;14718706;12873855 False 3 100;0;0 2.1 True ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM# 612952 False 3 100;0;0 2.1 True ENSG00000101347 ENSG00000101347 HGNC:15925 SC5D gene SC5D Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, MIM#607330 17853487;12189593;12812989;24142275 False 3 100;0;0 2.1 True ENSG00000109929 ENSG00000109929 HGNC:10547 SCO2 gene SCO2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377 15210538;18924171;22231385;10545952;10749987 False 3 100;0;0 2.1 True ENSG00000130489 ENSG00000130489 HGNC:10604 SDCCAG8 gene SDCCAG8 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000054282 ENSG00000054282 HGNC:10671 SEC23B gene SEC23B Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II MIM#224100 19561605;19621418;26522472;27471141;37373084 False 3 100;0;0 2.1 True ENSG00000101310 ENSG00000101310 HGNC:10702 SEPSECS gene SEPSECS Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, MIM# 613811 12920088;29464431;29464431;20920667 False 3 100;0;0 2.1 True ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000122335 ENSG00000122335 HGNC:21061 SERPINH1 gene SERPINH1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type X, MIM# 613848;Osteogenesis imperfecta type 10, MONDO:0013459 20188343;25510505;31179625;29520608;33524049 False 3 100;0;0 2.1 True ENSG00000149257 ENSG00000149257 HGNC:1546 SGCA gene SGCA Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 False 3 100;0;0 2.1 True ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700 False 3 100;0;0 2.1 True ENSG00000102683 ENSG00000102683 HGNC:10809 SGSH gene SGSH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900;MONDO:0009655 7493035;9158154;9401012;9554748 False 3 100;0;0 2.1 True ENSG00000181523 ENSG00000181523 HGNC:10818 SH3TC2 gene SH3TC2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C MIM#601596 False 3 100;0;0 2.1 True ENSG00000169247 ENSG00000169247 HGNC:29427 SKIV2L gene SKIV2L Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM# 614602 22444670;34414925;25714577 False 3 100;0;0 2.1 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A1 gene SLC12A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, MIM#601678 8640224;9355073;28095294 False 3 100;0;0 2.1 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A6 gene SLC12A6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000 34706912 False 3 100;0;0 2.1 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC16A2 gene SLC16A2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile (MIM#269920) 10947946;5516337;33862140 False 3 100;0;0 2.1 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC19A2 gene SLC19A2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, MIM#249270 10391221;19643445 False 3 100;0;0 2.1 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A4 gene SLC1A4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 25930971;26138499;26041762;27193218;29989513 False 3 100;0;0 2.1 True ENSG00000115902 ENSG00000115902 HGNC:10942 SLC22A5 gene SLC22A5 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182;Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197 20301347;26870663;31527857;31808147;23561848;23393310 False 3 100;0;0 2.1 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A13 gene SLC25A13 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, MIM#605814 20301360;21424115;11343052;11281457 False 3 100;0;0 2.1 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970 10369256;19242930 False 3 100;0;0 2.1 True ENSG00000102743 ENSG00000102743 HGNC:10985 SLC26A2 gene SLC26A2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Achondrogenesis Ib MIM#600972;Atelosteogenesis, type II MIM#256050;De la Chapelle dysplasia MIM#256050;Diastrophic dysplasia MIM#222600;Diastrophic dysplasia, broad bone-platyspondylic variant MIM#222600;Epiphyseal dysplasia, multiple, 4 MIM#226900 20301483;20301689;11241838;8723100 False 3 100;0;0 2.1 True ENSG00000155850 ENSG00000155850 HGNC:10994 SLC26A3 gene SLC26A3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Diarrhea 1, secretory chloride, congenital, 214700 (3) 31325522;19861545;11524734 False 3 100;0;0 2.1 True ENSG00000091138 ENSG00000091138 HGNC:3018 SLC35A3 gene SLC35A3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures MIM#615553 28777481;24031089;28328131 False 3 100;0;0 2.1 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC37A4 gene SLC37A4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib MIM#232220;Glycogen storage disease Ic MIM#232240;Glycogen Storage Disease I MONDO:0002413 33964207;9675154;9758626 False 3 100;0;0 2.1 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC38A8 gene SLC38A8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218) 24290379;32744312 False 3 100;0;0 2.1 True ENSG00000166558 ENSG00000166558 HGNC:32434 SLC39A4 gene SLC39A4 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, MIM# 201100 19370757 False 3 100;0;0 2.1 True ENSG00000147804 ENSG00000147804 HGNC:17129 SLC45A2 gene SLC45A2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IV MIM#606574 11574907;14722913;14961451 False 3 100;0;0 2.1 True ENSG00000164175 ENSG00000164175 HGNC:16472 SLC46A1 gene SLC46A1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, MIM# 229050 20301716 False 3 100;0;0 2.1 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC52A2 gene SLC52A2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 26973221;22864630;24253200 False 3 100;0;0 2.1 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, MIM#211530 20206331;26976849;29053833;25462087 False 3 100;0;0 2.1 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC6A5 gene SLC6A5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3, MIM#614618 31604777;30847549;29859229;16751771 False 3 100;0;0 2.1 True ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, MIM#300352 11326334;11898126;15154114;17101918;16086185 False 3 100;0;0 2.1 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A7 gene SLC7A7 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM#222700 17764084 False 3 100;0;0 2.1 True ENSG00000155465 ENSG00000155465 HGNC:11065 SMARCAL1 gene SMARCAL1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, MIM# 242900 31275356;29282041;18356746 False 3 100;0;0 2.1 True ENSG00000138375 ENSG00000138375 HGNC:11102 SMN1 gene SMN1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669 7813012;23788250;39062735;29904179;33531827 False 3 100;0;0 2.1 True ENSG00000172062 ENSG00000172062 HGNC:11117 SMPD1 gene SMPD1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM#257200;Niemann-Pick disease, type B, MIM#607616 26499107 False 3 100;0;0 2.1 True ENSG00000166311 ENSG00000166311 HGNC:11120 SNAP29 gene SNAP29 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528) 29051910;21073448;30793783;33977139 False 3 100;0;0 2.1 True ENSG00000099940 ENSG00000099940 HGNC:11133 SPATA5 gene SPATA5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577 29343804;26299366;27246907 False 3 100;0;0 2.1 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPG11 gene SPG11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, MIM# 604360 33581793 False 3 100;0;0 2.1 True ENSG00000104133 ENSG00000104133 HGNC:11226 SPINK5 gene SPINK5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Netherton syndrome, MIM#256500 False 3 100;0;0 2.1 True ENSG00000133710 ENSG00000133710 HGNC:15464 SPR gene SPR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 22522443;26131547;33903016;31777525;16650784;21431957;28189489 False 3 100;0;0 2.1 True ENSG00000116096 ENSG00000116096 HGNC:11257 ST3GAL5 gene ST3GAL5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome, MIM# 609056 30691927;27232954 False 3 100;0;0 2.1 True ENSG00000115525 ENSG00000115525 HGNC:10872 STAR gene STAR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lipoid adrenal hyperplasia MIM#201710 7892608;8634702;9326645;8948562;9097960;11061515;11297612;14764819;16968793 False 3 100;0;0 2.1 True ENSG00000147465 ENSG00000147465 HGNC:11359 STX11 gene STX11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 20486178;16582076 False 3 100;0;0 2.1 True ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000076944 ENSG00000076944 HGNC:11445 SUMF1 gene SUMF1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, MIM#272200 30896912 False 3 100;0;0 2.1 True ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, MIM#272300 9428520;15952210;31127934;39676698;36303223 False 3 100;0;0 2.1 True ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 23829769 False 3 100;0;0 2.1 True ENSG00000148290 ENSG00000148290 HGNC:11474 SYN1 gene SYN1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000008056 ENSG00000008056 HGNC:11494 TANGO2 gene TANGO2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 False 3 100;0;0 2.1 True ENSG00000183597 ENSG00000183597 HGNC:25439 TAT gene TAT Expert Review Green;Literature Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinaemia, type II, MIM# 276600, MONDO:0010160 16574453;28255985 False 3 67;33;0 2.1 True ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM#302060 25299040 False 3 100;0;0 2.1 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D23 gene TBC1D23 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 11 MIM#617695 28823707;28823706 False 3 100;0;0 2.1 True ENSG00000036054 ENSG00000036054 HGNC:25622 TBC1D24 gene TBC1D24 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal 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 False 3 100;0;0 2.1 True ENSG00000162065 ENSG00000162065 HGNC:29203 TBCD gene TBCD Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE Expert Review Green;Mackenzie's Mission Prepair 500+ 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 27666369;34134906;17699660;34356170;12389028 False 3 100;0;0 2.1 True ENSG00000116957 ENSG00000116957 HGNC:11582 TCIRG1 gene TCIRG1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 MIM#259700 34624559;34210262;30084437;28816234 False 3 100;0;0 2.1 True ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency MIM#275350 19373259;32841161;33023511;30124850 False 3 100;0;0 2.1 True ENSG00000185339 ENSG00000185339 HGNC:11653 TCTN2 gene TCTN2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000119977 ENSG00000119977 HGNC:24519 TECPR2 gene TECPR2 Expert Review Green;Literature Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 23176824;35130874;26542466 False 3 100;0;0 2.1 True ENSG00000196663 ENSG00000196663 HGNC:19957 TELO2 gene TELO2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal You-Hoover-Fong syndrome, MIM#616954 False 3 100;0;0 2.1 True ENSG00000100726 ENSG00000100726 HGNC:29099 TF gene TF Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Atransferrinaemia MIM#209300 32028041 False 3 100;0;0 2.1 True ENSG00000091513 ENSG00000091513 HGNC:11740 TGM1 gene TGM1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 1, MIM#242300 9326318;10482949;11298529;24261627;30302839 False 3 100;0;0 2.1 True ENSG00000092295 ENSG00000092295 HGNC:11777 TH gene TH Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive, MIM# 605407 False 3 100;0;0 2.1 True ENSG00000180176 ENSG00000180176 HGNC:11782 THOC2 gene THOC2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000125676 ENSG00000125676 HGNC:19073 TK2 gene TK2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560 23230576 False 3 100;0;0 2.1 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM138 gene TMEM138 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM#614465 22282472;34354814;20301500 False 3 100;0;0 2.1 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM#614970;Meckel syndrome 11, MIM#615397 23012439;23349226;22179047;30617574;27449316;31663672;25869670 False 3 100;0;0 2.1 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM#614424 22152675;22152675 False 3 100;0;0 2.1 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000164953 ENSG00000164953 HGNC:28396 TMTC3 gene TMTC3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly 8 MIM#617255, MONDO:0014992 27773428;28973161;33293961 False 3 100;0;0 2.1 True ENSG00000139324 ENSG00000139324 HGNC:26899 TOE1 gene TOE1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 7 MIM#614969 28092684;36738896 False 3 100;0;0 2.1 True ENSG00000132773 ENSG00000132773 HGNC:15954 TPP1 gene TPP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 MIM#204500;Spinocerebellar ataxia, autosomal recessive 7 MIM#609270 31283065 False 3 100;0;0 2.1 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRDN gene TRDN Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750, MONDO:0009165 20301648;33996686;36814213 False 3 100;0;0 2.1 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM32 gene TRIM32 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 9634523;10399877;17994549;25351777;19492423;19303295;31309175 False 3 100;0;0 2.1 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism MIM#253250 10888877;25470042;33042106;17100991;12754710;11938494 False 3 100;0;0 2.1 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRMU gene TRMU Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000100416 ENSG00000100416 HGNC:25481 TRPM6 gene TRPM6 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal MIM#602014 35903165;18818955 False 3 100;0;0 2.1 True ENSG00000119121 ENSG00000119121 HGNC:17995 TSEN2 gene TSEN2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2B, MIM #612389 23562994;20952379;18711368 False 3 100;0;0 2.1 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A (MIM#277470);Pontocerebellar hypoplasia type 4 (MIM#225753);?Pontocerebellar hypoplasia type 5 (MIM#610204) 20952379 False 3 100;0;0 2.1 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, MIM#610505 33816677;31267352;30911037;27677415 False 3 100;0;0 2.1 True ENSG00000123297 ENSG00000123297 HGNC:12367 TSHB gene TSHB Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous 4 MIM#275100 31384098 False 3 100;0;0 2.1 True ENSG00000134200 ENSG00000134200 HGNC:12372 TTC37 gene TTC37 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1 MIM#222470 20176027;17318842 False 3 100;0;0 2.1 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) 28936210;30553809 False 3 100;0;0 2.1 True ENSG00000068724 ENSG00000068724 HGNC:19750 TTC8 gene TTC8 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM #615985 14520415;19797195 False 3 100;0;0 2.1 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTPA gene TTPA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency MIM#277460 27604308;7719340 False 3 100;0;0 2.1 True ENSG00000137561 ENSG00000137561 HGNC:12404 TULP1 gene TULP1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000112041 ENSG00000112041 HGNC:12423 TWNK gene TWNK Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM#603041 9924029 False 3 100;0;0 2.1 True ENSG00000025708 ENSG00000025708 HGNC:3148 TYR gene TYR Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type III MIM#203290 9345097;25093188 False 3 100;0;0 2.1 True ENSG00000107165 ENSG00000107165 HGNC:12450 UBA5 gene UBA5 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 44, MIM#617132 27545681;27545681;27545674;32179706;26872069 False 3 100;0;0 2.1 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBE2T gene UBE2T Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T MIM#616435 32646888;26119737;26046368;26085575 False 3 100;0;0 2.1 True ENSG00000077152 ENSG00000077152 HGNC:25009 UBR1 gene UBR1 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Johanson-Blizzard syndrome MIM#243800 24599544;18553553;16311597 False 3 100;0;0 2.1 True ENSG00000159459 ENSG00000159459 HGNC:16808 UGT1A1 gene UGT1A1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000241635 ENSG00000241635 HGNC:12530 UNC13D gene UNC13D Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 16825436;17993578;21881043 False 3 100;0;0 2.1 True ENSG00000092929 ENSG00000092929 HGNC:23147 UPF3B gene UPF3B Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000125351 ENSG00000125351 HGNC:20439 USH1C gene USH1C Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1C MIM# 276904, MONDO:0010171 31858762;10973247;10973248;11239869;21203349;12107438 False 3 100;0;0 2.1 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1G MIM#606943 20301442 False 3 100;0;0 2.1 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2A, MIM#276901 20507924;9624053;15015129;20301515;36041150;34331125 False 3 100;0;0 2.1 True ENSG00000042781 ENSG00000042781 HGNC:12601 USP9X gene USP9X Expert Review Green;Mackenzie's Mission Prepair 500+ 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 99, MIM#300919 31443933;26833328 False 3 0;0;0 2.1 True ENSG00000124486 ENSG00000124486 HGNC:12632 VLDLR gene VLDLR Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, MIM#224050 16080122;18326629;10380922 False 3 100;0;0 2.1 True ENSG00000147852 ENSG00000147852 HGNC:12698 VPS11 gene VPS11 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 12 MIM#616683 27473128;26307567;27120463;11250079;33452836 False 3 100;0;0 2.1 True ENSG00000160695 ENSG00000160695 HGNC:14583 VPS13B gene VPS13B Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, MIM# 216550 37692084;19533689;29758347;19006247 False 3 100;0;0 2.1 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS45 gene VPS45 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 30294941 False 3 100;0;0 2.1 True ENSG00000136631 ENSG00000136631 HGNC:14579 VPS53 gene VPS53 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2E, MIM#615851 12920088;24577744;30100179 False 3 100;0;0 2.1 True ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000100749 ENSG00000100749 HGNC:12718 VSX2 gene VSX2 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000119614 ENSG00000119614 HGNC:1975 WAS gene WAS Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000015285 ENSG00000015285 HGNC:12731 WDR34 gene WDR34 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000119333 ENSG00000119333 HGNC:28296 WDR62 gene WDR62 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000075702 ENSG00000075702 HGNC:24502 WDR81 gene WDR81 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430;Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794 28556411;21885617;33724704 False 3 100;0;0 2.1 True ENSG00000167716 ENSG00000167716 HGNC:26600 WHRN gene WHRN Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2D MIM#611383 26307081;26338283;22147658;17171570;21738389;27117407 False 3 100;0;0 2.1 True ENSG00000095397 ENSG00000095397 HGNC:16361 WISP3 gene WISP3 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Progressive pseudorheumatoid dysplasia MIM#208230 26610319 False 3 100;0;0 2.1 True ENSG00000112761 ENSG00000112761 HGNC:12771 WRN gene WRN Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Werner syndrome, MIM#277700 8968742;20301687 False 3 50;50;0 2.1 True ENSG00000165392 ENSG00000165392 HGNC:12791 WWOX gene WWOX Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000186153 ENSG00000186153 HGNC:12799 XIAP gene XIAP Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000101966 ENSG00000101966 HGNC:592 XPA gene XPA Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A , MIM#278700 False 3 100;0;0 2.1 True ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, MIM#278720 26255934;8298653 False 3 100;0;0 2.1 True ENSG00000154767 ENSG00000154767 HGNC:12816 YARS2 gene YARS2 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 24430573;24344687;32183361 False 3 100;0;0 2.1 True ENSG00000139131 ENSG00000139131 HGNC:24249 ZBTB24 gene ZBTB24 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069;MONDO:0013553 23486536 False 3 100;0;0 2.1 True ENSG00000112365 ENSG00000112365 HGNC:21143 ZDHHC9 gene ZDHHC9 Expert Review Green;Mackenzie's Mission Prepair 500+ 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 2.1 True ENSG00000188706 ENSG00000188706 HGNC:18475 ZFYVE26 gene ZFYVE26 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive MIM#270700 34057829;33033739 False 3 100;0;0 2.1 True ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF711 gene ZNF711 Expert Review Green;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 97, MIM# 300803 False 3 100;0;0 2.1 True ENSG00000147180 ENSG00000147180 HGNC:13128 CLN3 gene CLN3 Expert Review Amber;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, MIM# 204200;MONDO:0008767 7553855;9004140;9311735;31926949 False 2 100;0;0 2.1 True ENSG00000188603 ENSG00000188603 HGNC:2074 GNE gene GNE Expert Review Red;Mackenzie's Mission Prepair 500+ Screening BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy MIM#605820;Thrombocytopenia 12 with or without myopathy MIM#620757 25257349;17549255;25061177;30171045;29941673 False 1 0;100;0 2.1 True ENSG00000159921 ENSG00000159921 HGNC:23657 GPR143 gene GPR143 Expert Review Red;Mackenzie's Mission Prepair 500+ Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Nystagmus 6, congenital, X-linked, MIM#300814;Ocular albinism, type I, Nettleship-Falls type, MIM#300500 30555098;29761529 False 1 0;100;0 2.1 True ENSG00000101850 ENSG00000101850 HGNC:20145