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Gene and Disease List CarrierScreeningGeneandDiseaseList Gene Disease Inheritance Gene Disease Inheritance GRACILEsyndrome;Bjornstadsyndrome;Leigh AAAS Achalasia-addisonianism-alacrimasyndrome AR BCS1L syndrome;MitochondrialcomplexIIIdeficiency, AR nucleartype1 Progressivefamilialintrahepaticcholestasis,type ABCB11 AR BLM Bloomsyndrome AR II ABCC6 Pseudoxanthomaelasticum AR BSND Barttersyndrome,typeIV AR ABCC8 Familialhyperinsulinemichypoglycemiatype1 AR BTD Biotinidasedeficiency AR Desbuquoisdysplasia,typeI;Epiphyseal ABCD1 Adrenoleukodystrophy(X-linked) XL CANT1 AR dysplasia,multiple,7 ACADM MediumchainAcyl-CoAdehydrogenasedeficiency AR CAPN3 Limb-girdlemusculardystrophy,type2A AR ACADS ShortchainAcyl-CoAdehydrogenasedeficiency AR CBS Homocystinuria,CBS-related AR Ushersyndrome,typeID;Deafness,autosomal ACADSB 2-Methylbutyryl-CoAdehydrogenasedeficiency AR CDH23 AR recessive12 Lebercongenitalamaurosis10;Joubertsyndrome ACADVL VerylongchainAcyl-CoAdehydrogenasedeficiency AR CEP290 5; AR Meckelsyndrome4;Senior-Lokensyndrome6 Beta-ketothiolasedeficiency(Alpha- ACAT1 AR CERKL Retinitispigmentosa26 AR methylacetoaceticaciduria) Cysticfibrosis;Congenitalbilateralabsenceofvas ACOX1 Peroxisomalacyl-CoAoxidasedeficiency AR CFTR AR deferens SeverecombinedimmunodeficiencyduetoADA ADA AR CHAT Congenitalmyasthenicsyndrome6 AR deficiency ADAMTS2 EhlersDanlossyndrome,typeVIIC AR CHM Choroideremia AR Congenitalmyasthenicsyndrome4A;Congenital ADAR Aicardi-Goutieressyndrome6 AR CHRNE myasthenicsyndrome4B;Congenitalmyasthenic AR syndrome4C ADGRG1 Bilateralfrontoparietalpolymicrogyria AR CLN3 Neuronalceroidlipofuscinosis,CLN3-related AR AGA Aspartylglycosaminuria AR CLN5 Neuronalceroidlipofuscinosis,CLN5-related AR AGL Glycogenstoragedisease,typeIII(a&b) AR CLN6 Neuronalceroidlipofuscinosis,CLN6-related AR Neuronalceroidlipofuscinosis,CLN8-related; AGPS Rhizomelicchondrodysplasiapunctata,typeIII AR CLN8 AR Northernepilepsy AGXT Primaryhyperoxaluria,typeI AR CLRN1 Ushersyndrome,typeIIIA AR Polyglandularautoimmunesyndrome,typeI (Autoimmunepolyendocrinopathysyndrometype AIRE AR CNGA3 Achromatopsia2,CNGA3-related AR I,withorwithoutreversiblemetaphyseal dysplasia) ALDH3A2 Sjögren-Larssonsyndrome AR CNGB3 Achromatopsia3,CNGB3-related AR ALDH7A1 Pyridoxine-dependentepilepsy AR COL4A3 Alportsyndrome AR ALDOB Hereditaryfructoseintolerance AR COL4A5 Alportsyndrome,X-linked XL Dystrophicepidermolysisbullosa,autosomal ALG6 Congenitaldisorderofglycosylation,typeIc AR COL7A1 AR recessive ALPL Hypophosphatasia,autosomalrecessive AR COLQ Congenitalmyasthenicsyndrome5 AR AMT Glycineencephalopathy,AMT-related AR CPT1A CarnitinepalmitoyltransferaseIAdeficiency AR AP1S1 MEDNIKsyndrome AR CPT2 CarnitinepalmitoyltransferaseIIdeficiency AR Lebercongenitalamaurosis8;Retinitis AP3B1 Hermansky-Pudlaksyndrome,type2 AR CRB1 AR pigmentosa-12 Cystinosis,atypicalnephropathic;Cystinosis,late- onsetjuvenileoradolescentnephropathic; AR Androgeninsensitivitysyndrome XL CTNS AR Cystinosis,nephropathic; Cystinosis,ocularnonnephropathic ARSA Metachromaticleukodystrophy AR CTSD Neuronalceroidlipofuscinosis10 AR ARSB Mucopolysaccharidosis,typeVI AR CTSF Neuronalceroidlipofuscinosis13 AR ASL Argininosuccinicaciduria AR CTSK Pycnodysostosis AR CortisonemethyloxidasetypeIIdeficiency; ASNS AsparagineSynthetasedeficiency AR CYP11B2 AR CortisonemethyloxidasetypeIdeficiency Congenitaladrenalhyperplasiadueto17-alpha- ASPA Canavandisease AR CYP17A1 AR hydroxylasedeficiency ASS1 Citrullinemia,typeI AR CYP19A1 Aromatasedeficiency AR ATM Ataxia-telangiectasia AR CYP1B1 Primarycongenitalglaucoma3A AR Kufor-Rakebsyndrome(KRS); Congenitaladrenalhyperplasiadueto21- ATP13A2 AR CYP21A2 AR Autosomalrecessivespasticparaplegia-78(SPG78) hydroxylasedeficiency Renaltubularacidosisanddeafness,ATP6V1B1- ATP6V1B1 AR CYP27A1 Cerebrotendinousxanthomatosis AR related ATP7B Wilsondisease AR CYP27B1 VitaminD-dependentrickets,typeI AR BBS1 Bardet-Biedlsyndrome1 AR DBT Maplesyrupurinedisease,typeII AR Omennsyndrome;Severecombined BBS2 Bardet-Biedlsyndrome2 AR DCLRE1C AR immunodeficiency,Athabascantype BBS4 Bardet-Biedlsyndrome4 AR DHCR7 Smith-Lemli-Opitzsyndrome AR BBS7 Bardet-Biedlsyndrome7 AR DHDDS Retinitispigmentosa59 AR BBS9 Bardet-Biedlsyndrome9 AR DKC1 Dyskeratosiscongenita,X-linked XL BBS10 Bardet-Biedlsyndrome10 AR DLD Dihydrolipoamidedehydrogenasedeficiency AR BBS12 Bardet-Biedlsyndrome12 AR DMD Duchenne/Beckermusculardystrophy XL BCHE Pseudocholinesterasedeficiency AR DNAH5 Primaryciliarydyskinesiatype3,DNAH5-related AR BCKDHA Maplesyrupurinedisease,typeIa AR DNAI1 Primaryciliarydyskinesiatype1,DNAI1-related AR BCKDHB Maplesyrupurinedisease,typeIb AR DNAI2 Primaryciliarydyskinesiatype9,DNAI2-related AR DNAJC5 Neuronalceroidlipofuscinosistype4 AR GNPTG MucolipidosisIIIgamma AR Fetalakinesiadeformationsequence,DOK7- DOK7 AR GNS MucopolysaccharidosistypeIIID AR related;Congenitalmyasthenicsyndrome,10 DPYD Dihydropyrimidinedehydrogenasedeficiency AR GORAB Gerodermaosteodysplastica AR Limb-girdlemusculardystrophy,type2B; DYSF Miyoshimyopathyanddistalmyopathywith AR GRHPR Primaryhyperoxaluria,typeII AR anteriortibialonset EDA Hypohidroticectodermaldysplasia,X-linked XL GRN Neuronalceroidlipofuscinosistype11 AR Lebercongenitalamaurosis1;Choroidal EDAR Hypohidroticectodermaldysplasia10B AR GUCY2D AR dystrophy,centralareolar1 Familialhyperinsulinemichypoglycemia,familial EMD Emery-Dreifussmusculardystrophy XL HADH AR 4;3-hydroxyacyl-CoAdehydrogenasedeficiency Long-chain3-Hydroxyacyl-CoAdehydrogenase ERCC2 Xerodermapigmentosum AR HADHA AR deficiency;Trifunctionalproteindeficiency Severecongenitalneutropenia3,autosomal ETFA Glutaricacidemia,TypeIIA AR HAX1 AR recessive ETFB Glutaricacidemia,TypeIIB AR HBA1 Alpha-thalassemia AR ETFDH Glutaricacidemia,TypeIIC AR HBA2 Alpha-thalassemia AR ETHE1 Ethylmalonicencephalopathy AR HBB Beta-thalassemia,andotherhemoglobinopathies AR MegalencephalicLeukoencephalopathywith EXOSC3 Pontocerebellarhypoplasiatype1B AR HEXA AR SubcorticalCysts,types2A&2B EYS Retinitispigmentosa25,EYS-related AR HEPACAM Tay-Sachsdisease;GM2-ganlgliosidosis AR F2 Hypoprothrombinemia AR HEXB Sandhoffdisease AR F5 FactorVdeficiency AR HFE Hereditaryhemochromatosistype1,HFE-related AR Hereditaryhemochromatosistype2A,HFE2- F8 HemophiliaA XL HFE2 AR related F9 HemophiliaB XL HGD Alkaptonuria AR F11 FactorXIDeficiency AR HGSNAT Mucopolysaccharidosis,typeIIIC AR FAH Tyrosinemia,typeI AR HLCS Holocarboxylasesynthetasedeficiency AR FAM161A Retinitispigmentosa28 AR HMGCL 3-hydroxy-3-methylglutarylCoAlyasedeficiency AR FANCA Fanconianemia,complementationgroupA AR HOGA1 Primaryhyperoxaluria,typeIII AR FANCC Fanconianemia,complementationgroupC AR HPRT1 Lesch-Nyhansyndrome;HPRT-relatedgout XL FANCG FanconiAnemia,complementationgroupG AR HPS1 Hermansky-Pudlaksyndrome,type1 AR FH Fumarasedeficiency AR HPS3 Hermansky-Pudlaksyndrome,type3 AR Limb-girdlemusculardystrophy,type2I; Musculardystrophy-dystroglycanopathy (congenitalwithbrainandeyeanomalies),typeA, FKRP 5;Musculardystrophy-dystroglycanopathy AR HPS4 Hermansky-Pudlaksyndrome,type4 AR (congenitalwithorwithoutmentalretardation), typeB,5;Musculardystrophy-dystroglycanopathy (limb-girdle),typeC,5 Musculardystrophy-dystroglycanopathytype4A (Walker-Warburgsyndrome);Musculardystrophy- FKTN dystroglycanopathytype4B; AR HPS5 Hermansky-Pudlaksyndrome,type5 AR Musculardystrophy-dystroglycanopathytype4C; Cardiomyopathy,dilated,1X FragileXsyndrome;FMR1-relatedprimaryovarian FMR1 insufficiency;FragileX-associatedtremor/ataxia XL HPS6 Hermansky-Pudlaksyndrome,type6 AR syndrome 17-beta-hydroxysteroiddehydrogenase G6PC Glycogenstoragedisease,typeIA AR HSD17B3 AR deficiency,typeIII Glucose-6-phosphatedehydrogenasedeficiency; D-bifunctionalproteindeficiency;Perrault G6PD XL HSD17B4 AR HemolyticanemiaduetoG6PDdeficiency syndrome1 Congentialadrenalhyperplasiadueto3-Beta- GAA Glycogenstoragedisease,typeII AR HSD3B2 AR hydroxysteroiddehydrogenasedeficiency,typeII GALC Krabbedisease AR IDS Mucopolysaccharidosis,typeII(Huntersyndrome) XL GALK1 Galactokinasedeficiency AR IDUA Mucopolysachharidosis,typeI(Hurlersyndrome) AR GALNT3 Hyperphospatemictumoralcalcinosis,familial AR IKBKAP Familialdysautonomia(HSAN3) AR GALT Galactosemia AR IL2RG Severecombinedimmunodeficiency,X-linked XL Walker-Warburg(Musculardystrophy- dystroglycanopathy(congenitalwithbrainand GAMT Guanidinoacetatemethyltransferasedeficiency AR ISPD AR eyeanomalies),typeA,7;Musculardystrophy- dystroglycanopathy(limb-girdle),typeC,7 GBA Gaucherdisease AR IVD Isovalericacidemia AR Familialhyperinsulinemichypoglycemiatype2, GBE1 Glycogenstoragedisease,typeIV AR KCNJ11 AR KCNJ11-related Neuronalceroidlipofuscinosis14(progressive GCDH Glutaricacidemia,typeI AR KCTD7 AR myoclonicepilepsytype3) DuPansyndrome;Chondrodysplasia,Grebetype; L1syndrome; GDF5 BrachydactylytypeA1,C; AR L1CAM XL MASAsyndrome,CRASHsyndrome Acromesomelicdysplasia,Hunter-Thompsontype Herlitzjunctionalepidermolysisbullosa,LAMA3- related;Laryngoonychocutaneoussyndrome; GFPT1 Congenitalmyasthenicsyndrome12 AR LAMA3 AR Epidermolysisbullosa,generalizedatrophic benign Herlitzjunctionalepidermolysisbullosa;non- GJB1 Charcot-Marie-Toothdisease,GJB1-related XL LAMB3 AR Herlitzjunctionalepidermolysisbullosa Herlitzjunctionalepidermolysisbullosa;non- GJB2 Nonsyndromichearingloss,GJB2-related AR LAMC2 AR Herlitzjunctionalepidermolysisbullosa Musculardystrophy-dystroglycanopathy, congenitalwithbrainandeyeanomalies,type6A GJB6 NonsyndromicHearingLoss,GJB6-related AR LARGE1 (Walker-Warburg);Musculardystrophy- AR dystroglycanopathy(congenitalwithmental retardation),type6B GLA Fabrydisease XL
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