TaGSCAN v2 Gene List. Exons with reduced coverage. Estimated reduced sensitivity? OMIM # Disease Gene

Transcription

1 Page 1 of ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME AAAS None None ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE ABCA12 None None SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 ABCA3 None None CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2 ABCB11 None None CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC ABCB4 None None HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1 ABCC8 None None DEFICIENCY OF ACYL-CoA DEHYDROGENASE FAMILY MEMBER 9 ACAD9 None None ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF ACADM None None ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF ACADVL None None ALPHA-METHYLACETOACETIC ACIDURIA ACAT1 None None PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY ACOX1 None None MENTAL RETARDATION, X-LINKED 68 ACSL4 None None SEVERE COMBINED IMMUNODEFICIENCY, AUT REC, T CELL-NEGATIVE, ADA None none THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL ADAMTS13 exons 7, 8 95% or better GELEOPHYSIC DYSPLASIA ADAMTSL2 None none COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4 ADCK3 None None MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE AFF2 None None GLYCOGEN STORAGE DISEASE III AGL None None RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 AGPS Exon 1 95% or better JOUBERT SYNDROME 3 AHI1 None None AUTOIMMUNE POLYENDOCRINE SYNDROME TYPE I AIRE None none SJOGREN-LARSSON SYNDROME ALDH3A2 None None SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY ALDH5A1 Exon 1 moderate (75-95%) sensitivity EPILEPSY, PYRIDOXINE-DEPENDENT; EPD ALDH7A1 None None FRUCTOSE INTOLERANCE, HEREDITARY ALDOB None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ig ALG12 None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ii ALG2 None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D ALG3 None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ic ALG6 None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih ALG8 None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il ALG9 Exon 1 95% or better ALSTROM SYNDROME ALMS1 None None HYPOPHOSPHATASIA, CHILDHOOD ALPL None None JUVENILE AMYOTROPHIC LATERAL SCLEROSIS 2 ALS2 None None BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4 AMACR None none GLYCINE ENCEPHALOPATHY AMT None None FIBROMATOSIS, JUVENILE HYALINE ANTXR2 None none MENTAL RETARDATION, X-LINKED 59 AP1S2 None None HERMANSKY-PUDLAK SYNDROME 2 AP3B1 None None ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA APTX None None INFERTILE MALE SYNDROME AR Exon 1 95% or better HYPEREKPLEXIA AND EPILEPSY ARHGEF9 None none METACHROMATIC LEUKODYSTROPHY ARSA None None MUCOPOLYSACCHARIDOSIS TYPE VI MAROTEAUX-LAMY ARSB Exon 1 moderate (75-95%) sensitivity CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE ARSE None None CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA ARX Exons 2, 4, 6 below 75% sens ARGININOSUCCINIC ACIDURIA ASL None None CANAVAN DISEASE ASPA None None CITRULLINEMIA, CLASSIC ASS1 None None ATAXIA-TELANGIECTASIA ATM None None CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II ATP6V0A2 None None MENKES DISEASE ATP7A None None WILSON DISEASE ATP7B None None CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1 ATP8B1 None None SECKEL SYNDROME 1 ATR None None α-thalassemia/mental RETARDATION SYNDROME,NONDELETION TYPE, X- LINKED ATRX None None METHYLGLUTACONIC ACIDURIA, TYPE I AUH None none CONGENITAL DISORDER OF GLYCOSYLATION TYPE IId B4GALT1 None none MAPLE SYRUP URINE DISEASE Type Ia BCKDHA None None BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE BCKDHB None None MICROPHTHALMIA, SYNDROMIC BCOR None None MITOCHONDRIAL COMPLEX III DEFICIENCY BCS1L None None BLOOM SYNDROME BLM None None MENTAL RETARDATION, X-LINKED 93 BRWD3 None None BIOTINIDASE DEFICIENCY BTD None None AGAMMAGLOBULINEMIA, X-LINKED XLA BTK None None INFANTILE-ONSET SPINOCEREBELLAR ATAXIA C10ORF2 Exon 2 below 75% sens OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 CA2 None None

2 Page 2 of MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA CASK None None Autoimmune lymphoproliferative syndrome, type II CASP10 Exon 10 moderate (75-95%) sensitivity HOMOCYSTINURIA CBS None None IMMUNODEFICIENCY, COMMON VARIABLE, 3 CD19 None None IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA CD247 None none SCID, AUT REC, T CELL-NEGATIVE, B CELL+, NK CELL+ CD3D None None IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON CD3E None None IMMUNODEFICIENCY DUE TO DEFECT IN CD3-GAMMA CD3G None None IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 CD40LG None None USHER SYNDROME, TYPE ID CDH23 None None EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE CDKL5 None None JOUBERT SYNDROME 5 CEP290 None None PROPERDIN DEFICIENCY, X-LINKED CFP None None CYSTIC FIBROSIS CFTR None None MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE CHRNA1 None None MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE CHRND None None MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE CHRNG None None DENT DISEASE 1 CLCN5 None None OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 CLCN7 Exon 1 95% or better ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS CLDN1 None None HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT CLDN19 None None NEURONAL CEROID LIPOFUSCINOSIS 3 CLN3 None None NEURONAL CEROID LIPOFUSCINOSIS 5 CLN5 Exon 1 95% or better CEROID LIPOFUSCINOSIS, NEURONAL, 6 CLN6 Exon 1 moderate (75-95%) sensitivity CEROID LIPOFUSCINOSIS, NEURONAL, 8 CLN8 None None Usher syndrome type 3A CLRN1 None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iig COG1 None none CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iie COG7 None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE Iih COG8 None none EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE COL17A1 None None OSTEOGENESIS IMPERFECTA, TYPE I COL1A1 Exons 5,9,17, 30, 34, 51 moderate (75-95%) sensitivity OSTEOGENESIS IMPERFECTA, TYPE II COL1A2 Exon 16, 23 & 24 moderate (75-95%) sensitivity ALPORT SYNDROME, AUTOSOMAL RECESSIVE COL4A3 Exon 1 95% or better ALPORT SYNDROME, AUTOSOMAL RECESSIVE COL4A4 None None ALPORT SYNDROME, X-LINKED COL4A5 None none ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD COL6A1 None None ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD COL6A2 Exons 15, 16 95% or better ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD COL6A3 None None EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE COL7A1 None None COENZYME Q10 DEFICIENCY COQ2 Exon 1 moderate (75-95%) sensitivity COENZYME Q10 DEFICIENCY COQ9 Exon 1 moderate (75-95%) sensitivity Complex IV deficiency COX10 None None Complex IV deficiency COX15 None None Complex IV deficiency COX6B1 None None CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO CPS1 None None CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY CPT1A None None CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET CPT2 None none CRISPONI SYNDROME CRLF1 Exons 1, 7, 18 moderate (75-95%) sensitivity OSTEOGENESIS IMPERFECTA, TYPE IIB CRTAP None none MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG CSTB None None CYSTINOSIS, ADULT NONNEPHROPATHIC CTNS None None CEROID LIPOFUSCINOSIS, NEURONAL, 10 CTSD None None PYCNODYSOSTOSIS CTSK None None MENTAL RETARDATION X-LINKED WITH BRACHYDACTYLY AND MACROGLOSSIA CUL4B None None LIPOID CONGENITAL ADRENAL HYPERPLASIA CYP11A1 None None CONGENITAL ADRENAL HYPERPLASIA CYP11B1 None None CONGENITAL ADRENAL HYPERPLASIA CYP17A1 None None CEREBROTENDINOUS XANTHOMATOSIS CYP27A1 None none VITAMIN D-DEPENDENT RICKETS, TYPE I CYP27B1 None None MSUD type 2 DBT None None OMENN SYNDROME DCLRE1C None None LISSENCEPHALY, X-LINKED, 1 DCX None None XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E DDB2 None None AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY DDC None None MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DGUOK None None DESMOSTEROLOSIS DHCR24 None None SMITH-LEMLI-OPITZ SYNDROME DHCR7 None None HOYERAAL-HREIDARSSON SYNDROME DKC1 None None

3 Page 3 of DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY DLD None None MENTAL RETARDATION X-LINKED 90 DLG3 None None Spondylocostal dysostosis 1, autosomal recessive DLL3 Exons 4, 7 moderate (75-95%) sensitivity MUSCULAR DYSTROPHY, DUCHENNE TYPE DMD None None HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE DMP1 None None METHYLGLUTACONIC ACIDURIA, TYPE V DNAJC19 None None IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME DNMT3B None None HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE DOCK8 None none FETAL AKINESIA DEFORMATION SEQUENCE DOK7 Exon 2, 7 below 75% sens CONGENITAL DISORDER OF GLYCOSYLATION TYPE Im DOLK None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij DPAGT1 None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie DPM1 None None DIHYDROPYRIMIDINE DEHYDROGENASE DPYD None None EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC DSP Exon 23 moderate (75-95%) sensitivity ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 None None ECTODERMAL DYSPLASIA, HYPOHIDROTIC, X-LINKED EDA None None WAARDENBURG-SHAH SYNDROME EDN3 None None WAARDENBURG-SHAH SYNDROME EDNRB None None CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I EFEMP2 None None CRANIOFRONTONASAL SYNDROME EFNB1 None None HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS EGR2 None None EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS EIF2AK3 Exon 1 95% or better ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY ENPP1 Exon 1 95% or better MYOCLONIC EPILEPSY OF LAFORA EPM2A Exon 1 below 75% sens LETHAL CONGENITAL CONTRACTURE SYNDROME 2 ERBB3 None None XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D ERCC2 None None XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B ERCC3 None None XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F ERCC4 None None XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G ERCC5 None None COCKAYNE SYNDROME TYPE B ERCC6 None None COCKAYNE SYNDROME, TYPE A ERCC8 None None ROBERTS SYNDROME ESCO2 None None MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFA None None MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFB None None MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY ETFDH None None ENCEPHALOPATHY, ETHYLMALONIC ETHE1 None None ELLIS-VAN CREVELD SYNDROME; EVC EVC None none ELLIS-VAN CREVELD SYNDROME EVC2 Exon 1 95% or better HEMOPHILIA A; HEMA F8 None None HEMOPHILIA B; HEMB F9 None None TYROSINEMIA, TYPE I FAH None None LEUKODYSTROPHY, HYPOMYELINATING, 5 FAM126A None None RAINE SYNDROME FAM20C Exon 1 95% or better Fanconi anemia type C FANCC None None Autoimmune Lymphoproliferative Syndrome, Type Ia FAS None None Autoimmune Lymphoproliferative Syndrome, Type Ib FASLG None None Complex IV deficiency FASTKD2 None None CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I FBLN5 None None LEUKOCYTE ADHESION DEFICIENCY TYPE III FERMT3 None None Afibrinogenemia, congenital FGA None None FACIOGENITAL DYSPLASIA FGD1 Exon 1 95% or better CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H FGD4 None None FUMARASE DEFICIENCY FH None None MUSCLE-EYE-BRAIN DISEASE FKRP Exon 1 below 75% sens FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY FKTN None None NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY FOLR1 None None RETT SYNDROME, CONGENITAL VARIANT FOXG1 Exon 1 moderate (75-95%) sensitivity T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY FOXN1 None None IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X- LINKED FOXP3 None None FRASER SYNDROME FRAS1 None None FRASER SYNDROME FREM2 None None MENTAL RETARDATION, X-LINKED 9 FTSJ1 None None FUCOSIDOSIS FUCA1 None None GLYCOGEN STORAGE DISEASE Ia G6PC None None GLYCOGEN STORAGE DISEASE I VON GIERKE DISEASE G6PC3 None None GLUCOSE-6-PHOSPHATE DEHYDROGENASE G6PD None None GLYCOGEN STORAGE DISEASE II (pompe) GAA None None KRABBE DISEASE GALC Exon 1 95% or better

4 Page 4 of GALACTOKINASE DEFICIENCY GALK1 None None GALACTOSEMIA GALT None None GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY GAMT Exons 1, 6 moderate (75-95%) sensitivity GLYCOGEN STORAGE DISEASE IV GBE1 None None GLUTARIC ACIDEMIA I GCDH None None GLYCINE ENCEPHALOPATHY GCSH Exon 1 moderate (75-95%) sensitivity CHARCOT-MARIE-TOOTH DISEASE TYPE 4A GDAP1 None None MENTAL RETARDATION, X-LINKED 41, 48 GDI1 Exon 1 95% or better COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 GFM1 None None DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES GJB2 None None LEUKODYSTROPHY, HYPOMYELINATING, 2 GJC2 Exon 2 below 75% sens FABRY DISEASE GLA None None GM1-GANGLIOSIDOSIS, TYPE I GLB1 None None GLYCINE ENCEPHALOPATHY GLDC Exon 1 95% or better LETHAL CONGENITAL CONTRACTURE SYNDROME 1 GLE1 None None MUCOLIPIDOSIS II ALPHA/BETA GNPTAB None None HYPOGONADOTROPIC HYPOGONADISM GNRHR None None SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 GPC3 None None USHER SYNDROME, TYPE IIC GPR98 None None MENTAL RETARDATION AUTOSOMAL RECESSIVE 6 GRIK2 None None GLUTATHIONE SYNTHETASE DEFICIENCY GSS None None TRICHOTHIODYSTROPHY, PHOTOSENSITIVE GTF2H5 None None HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY HADH None None HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, HADHA None None TRIFUNCTIONAL PROTEIN DEFICIENCY HADHB None None HEMOCHROMATOSIS, JUVENILE, TYPE 2B HAMP None None NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3 HAX1 None None THALASSEMIA MAJOR HBB None None PITUITARY DWARFISM III HESX1 None None TAY-SACHS DISEASE HEXA None None SANDHOFF DISEASE HEXB None None HEMOCHROMATOSIS, JUVENILE, TYPE 2A HFE2 None None Mucopolysaccharidosis type IIIC (Sanfilippo C) HGSNAT Exon 1 95% or better BETA-HYDROXYISOBUTYRYL CoA DEACYLASE, DEFICIENCY OF HIBCH None None HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HLCS None None HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMGCL None None TYROSINEMIA, TYPE III HPD None None LESCH-NYHAN SYNDROME HPRT1 Exon 1 95% or better CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY HSD11B2 Exon 1 95% or better MENTAL RETARDATION, X-LINKED, SYNDROMIC 10 HSD17B10 None None @BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY HSD17B3 None None D-BIFUNCTIONAL PROTEIN DEFICIENCY HSD17B4 None None BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY TYPE II HSD3B2 None None DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE HSPG2 None None MENTAL RETARDATION X-LINKED SYNDROMIC TURNER TYPE HUWE1 None None ANTIBODY DEFICIENCY DUE TO ICOS DEFECT ICOS None None HURLER SYNDROME IDUA None none ATYPICAL MYCOBACTERIOSIS, FAMILIAL IFNGR1 None None ATYPICAL MYCOBACTERIOSIS, FAMILIAL IFNGR2 Exon 1 95% or better ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 None None SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 IGHMBP2 Exon 1 95% or better NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III IKBKAP None None ATYPICAL MYCOBACTERIOSIS, FAMILIAL IKBKG None None ATYPICAL MYCOBACTERIOSIS, FAMILIAL IL12B None None ATYPICAL MYCOBACTERIOSIS, FAMILIAL IL12RB1 None none MENTAL RETARDATION, X-LINKED 21 IL1RAPL1 None None Deficiency of Interleukin-1-receptor antagonist IL1RN None None SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED IL2RG None None DONOHUE SYNDROME INSR Exon 1 95% or better NEPHRONOPHTHISIS 2 INVS None None SENIOR-LOKEN SYNDROME 5 IQCB1 None None EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA ITGA6 None None EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE ITGB4 None None ISOVALERIC ACIDEMIA IVD None None SEVERE COMBINED IMMUNODEFICIENCY, AUT REC, T CELLˉ, B CELL +, NK CELLˉ JAK3 None None BARTTER SYNDROME, ANTENATAL, TYPE 2 KCNJ1 None None MENTAL RETARDATION, X-LINKED, SYNDROMIC KDM5C None None MASA SYNDROME L1CAM None None MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A LAMA2 None None EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE LAMA3 Exon 1 95% or better

5 Page 5 of PIERSON SYNDROME LAMB2 None None EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE LAMB3 None None EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE LAMC2 None None MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D LARGE None None HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA LBR None None OSTEOGENESIS IMPERFECTA, TYPE VIII LEPRE1 Exon 1 moderate (75-95%) sensitivity PRECOCIOUS PUBERTY, MALE-LIMITED LHCGR None None PITUITARY DWARFISM III LHX3 None None STUVE-WIEDEMANN SYNDROME LIFR None None SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION LIG4 None None MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED LMNA Exon 1 moderate (75-95%) sensitivity DONNAI-BARROW SYNDROME LRP2 None None LEIGH SYNDROME, FRENCH-CANADIAN TYPE LRPPRC Exon 1 95% or better CHEDIAK HIGASHI SYNDROME LYST None None MANNOSIDOSIS, ALPHA B, LYSOSOMAL MAN2B1 None None ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA SYNDROME MBTPS2 None None MUCOLIPIDOSIS IV MCOLN1 Exon 1 95% or better RETT SYNDROME MECP2 None None LUJAN-FRYNS SYNDROME MED12 None None FAMILIAL MEDITERRANEAN FEVER MEFV None None CEROID LIPOFUSCINOSIS, NEURONAL, 7 MFSD8 None None CONGENITAL DISORDER OF GLYCOSYLATIO, TYPE IIa MGAT2 None None OPITZ GBBB SYNDROME, X-LINKED MID1 None None MECKEL SYNDROME TYPE 1 MKS1 None None MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS MLC1 None None METHYLMALONIC ACIDURIA, cbla TYPE MMAA None None METHYLMALONIC ACIDURIA, cblb TYPE MMAB None None METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblc TYPE MMACHC None None MOLYBDENUM COFACTOR DEFICIENCY MOCS1 None None MOLYBDENUM COFACTOR DEFICIENCY MOCS2 None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIb MOGS None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If MPDU1 None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib MPI None None AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL MPL None None MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM MPV17 None None HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS MPZ None None COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2 MRPS16 None None COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 MRPS22 None None MYOTUBULAR MYOPATHY 1 MTM1 None None METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY MUT None None MEVALONIC ACIDURIA MVK None None MYD88 DEFICIENCY MYD88D None None GRISCELLI SYNDROME, TYPE 1 MYO5A None None USHER SYNDROME, TYPE I MYO7A None None Mucopolysaccharidosis type IIIB (Sanfilippo B) NAGLU Exon 1 95% or better N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY NAGS Exon 1 95% or better NIJMEGEN BREAKAGE SYNDROME NBN None None NORRIE DISEASE NDP None None Complex I Deficiency NDUFA1 None None Complex I Deficiency NDUFA7 None None Complex I Deficiency NDUFAF2 None None Complex I Deficiency NDUFAF4 None None Complex I Deficiency NDUFS3 None None Complex I Deficiency NDUFS4 None None Complex I Deficiency NDUFS5 None None Complex I Deficiency NDUFS6 None None Complex I Deficiency NDUFS7 None None Complex I Deficiency NDUFS8 None None Complex I Deficiency NDUFV1 None None NEMALINE MYOPATHY 2 NEB None None NEURAMINIDASE DEFICIENCY NEU1 None None DIARRHEA 4, MALABSORPTIVE, CONGENITAL NEUROG3 None None SCID W MICROCEPHALY, GROWTH RETARDATION, & SENS TO IONIZING RADIATION NHEJ1 None None MYOCLONIC EPILEPSY OF LAFORA NHLRC1 None None NANCE-HORAN SYNDROME; NHS NHS Exon 1 moderate (75-95%) sensitivity X-linked Asperger syndrome-2 NLGN4X None None NIEMANN-PICK DISEASE, TYPE C1 NPC1 None None NIEMANN-PICK DISEASE, TYPE C2 NPC2 None None JOUBERT SYNDROME 4 NPHP1 None None RENAL-HEPATIC-PANCREATIC DYSPLASIA NPHP3 Exon 1 95% or better

6 Page 6 of NEPHRONOPHTHISIS 4 NPHP4 None None NEPHROSIS 1, CONGENITAL, FINNISH TYPE NPHS1 None None NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE NPHS2 None None GONADAL DYSGENESIS WITH ADRENAL FAILURE NR5A1 None None SOTOS SYNDROME NSD1 Exon 3 95% or better Autosomal mental retardation NSUN2 None none INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS NTRK1 Exon 1 95% or better STRIATONIGRAL DEGENERATION, INFANTILE NUP62 None None LOWE OCULOCEREBRORENAL SYNDROME OCRL None None SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 OFD1 None None @METHYLGLUTACONIC ACIDURIA, TYPE III OPA3 Exon 2 95% or better MENTAL RETARDATION, XLR, W CEREBELLAR HYPOPLASIA & DISTINCTIVE FACIAL APPEARANCE OPHN1 None None IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 ORAI1 Exon 1 moderate (75-95%) sensitivity OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 OSTM1 None none ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO OTC None None SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY OXCT1 None None PHENYLKETONURIA PAH None None MENTAL RETARDATION, X-LINKED 30 PAK3 None None NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (Hallervorden-Spatz) PANK2 Exon 1 moderate (75-95%) sensitivity PYRUVATE CARBOXYLASE DEFICIENCY PC None None PROPIONIC ACIDEMIA PCCA None None PROPIONIC ACIDEMIA PCCB None None EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION PCDH19 None None LEIGH SYNDROME, X-LINKED PDHA1 None None PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY PDHX Exon 1 95% or better PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY PDP1 None None COENZYME Q10 DEFICIENCY PDSS1 Exon 1 95% or better COENZYME Q10 DEFICIENCY PDSS2 None None ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM PEX1 None None ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM PEX10 PEX10 Exon 1 95% or better ZELLWEGER SYNDROME PEX12 None None ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM PEX13 PEX13 None None ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM PEX26 PEX26 None None ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM PEX5 PEX5 None None RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 PEX7 Exon 1 moderate (75-95%) sensitivity POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE PKHD1 None None PYRUVATE KINASE DEFICIENCY OF RED CELLS PKLR None None INFANTILE NEUROAXONAL DYSTROPHY PLA2G6 None None NEPHROTIC SYNDROME, TYPE 3 PLCE1 None None Hermansky Pudlak Syndrome, 9 PLDN (aka BLOC1S6) None None EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY PLEC None None SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 PLEKHG5 None None PLASMINOGEN DEFICIENCY TYPE I PLG None None NEVO SYNDROME PLOD1 None None PELIZAEUS-MERZBACHER DISEASE PLP1 None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE Ia PMM2 None None HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS PMP22 None None PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY PNPO None None ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS POLG None None MUSCLE-EYE-BRAIN DISEASE POMGNT1 None None WALKER-WARBURG SYNDROME POMT1 None None WALKER-WARBURG SYNDROME POMT2 None None DISORDERED STEROIDOGENESIS POR None None PITUITARY DWARFISM III POU1F1 None None NEURONAL CEROID LIPOFUSCINOSIS 1 PPT1 None None RENPENNING SYNDROME 1 PQBP1 None None HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 PRF1 Exon 2 95% or better PITUITARY DWARFISM III PROP1 None None ARTS SYNDROME PRPS1 None None MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 PRSS12 Exon 1 95% or better HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS PRX Exon 7 moderate (75-95%) sensitivity METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY PSAP None None Macrocephaly/autism syndrome PTEN None None CHONDRODYSPLASIA, BLOMSTRAND TYPE PTH1R None None GLYCOGEN STORAGE DISEASE V (McArdle) PYGM Exon 2 95% or better CARPENTER SYNDROME RAB23 None None GRISCELLI SYNDROME, TYPE 2 RAB27A None None

7 Page 7 of MENTAL RETARDATION X-LINKED 72 RAB39B None None WARBURG MICRO SYNDROME RAB3GAP1 None None MARTSOLF SYNDROME RAB3GAP2 None None SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL- NEGATIVE, RAG1 None None OMENN SYNDROME RAG2 None None FETAL AKINESIA DEFORMATION SEQUENCE RAPSN None None LISSENCEPHALY 2 RELN Exon 16 95% or better CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In RFT1 None None CARTILAGE-HAIR HYPOPLASIA RMRP None None AICARDI-GOUTIERES SYNDROME 4 RNASEH2A None None AICARDI-GOUTIERES SYNDROME 2 RNASEH2B Exon 1 95% or better AICARDI-GOUTIERES SYNDROME 3 RNASEH2C None none MECKEL SYNDROME, TYPE 5 RPGRIP1L None None X-linked mental retardation RPL10 None None COFFIN-LOWRY SYNDROME RPS6KA3 None None mtdna depletion, encephalomyopathic form RRM2B None None SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE SACS None None AICARDI-GOUTIERES SYNDROME 5 SAMDH1 None None LATHOSTEROLOSIS SC5DL None None PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE SCNN1A None None PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE SCNN1B None None PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE SCNN1G None None Complex IV deficiency SCO1 None None Complex IV deficiency SCO2 None None RIGID SPINE MUSCULAR DYSTROPHY 1 SEPN1 Exon 1 95% or better RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS SFTPB None None RESPIRATORY DISTRESS SYNDROME IN PREMATURE INFANTS SFTPC None None MUCOPOLYSACCHARIDOSIS TYPE IIIA (Sanfilippo type A) SGSH None None LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 SH2D1A None None STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME SHROOM4 None None Marinesco-Sjogren Syndrome SIL1 None None BARTTER SYNDROME, ANTENATAL, TYPE 1 SLC12A1 None None AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY SLC12A6 None None ALLAN-HERNDON-DUDLEY SYNDROME SLC16A2 None None INFANTILE SIALIC ACID STORAGE DISORDER SLC17A5 None None CARNITINE DEFICIENCY, SYSTEMIC PRIMARY SLC22A5 None None HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME SLC25A15 None None CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY SLC25A20 None None EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 SLC25A22 None None DIASTROPHIC DYSPLASIA SLC26A2 None None CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iif SLC35A1 None None CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIc SLC35C1 None None SCHNECKENBECKEN DYSPLASIA SLC35D1 None None GLYCOGEN STORAGE DISEASE Ib SLC37A4 None None CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS SLC4A11 None None CREATINE DEFICIENCY SYNDROME, X-LINKED SLC6A8 None None MENTAL RETARDATION, X-LINKED ANGELMAN, SYNDROMIC, CHRISTIANSON SLC9A6 None None NIEMANN-PICK DISEASE, TYPE B SMPD1 None None MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE SMS None None CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SNAP29 None None MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM SOX3 Exon 1 moderate (75-95%) sensitivity HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY SP110 None None PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH SRD5A2 None None Autosomal mental retardation CDG 1Q SRD5A3 None None Autosomal mental retardation ST3GAL3 None None AMISH INFANTILE EPILEPSY SYNDROME ST3GAL5 Exon 1 95% or better ATYPICAL MYCOBACTERIOSIS, FAMILIAL STAT1 None None IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2 STIM1 None None MICROPHTHALMIA, SYNDROMIC 9 (Matthew-Wood syndrome) STRA6 None None HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 STX11 None None

8 Page 8 of HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 STXBP2 Exon 1 95% or better mtdna depletion, encephalomyopathic form SUCLA2 None None LACTIC ACIDOSIS, FATAL INFANTILE (mtdna depletion) SUCLG1 None None SULFOCYSTEINURIA SUOX None None LEIGH SYNDROME SURF1 Exon 1 95% or better MENTAL RETARDATION X-LINKED SYP-RELATED SYP Exon 6 95% or better TYROSINEMIA, TYPE II TAT None None BARTH SYNDROME TAZ Exon 1 95% or better HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME TBCE None None PITT-HOPKINS SYNDROME TCF4 None None OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 TCIRG1 None None ICHTHYOSIS, LAMELLAR, 1 TGM1 None None SEGAWA SYNDROME, AUTOSOMAL RECESSIVE TH None None OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA TIMM8A None None MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM TK2 Exon 1 95% or better HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 TLR3 None None JOUBERT SYNDROME 6 TMEM67 None None PAGET DISEASE, JUVENILE TNFRSF11B None None NEURONAL CEROID LIPOFUSCINOSIS 2 TPP1 None None MENTAL RETARDATION AUTOSOMAL RECESSIVE 13 TRAPPC9 None None AICARDI-GOUTIERES SYNDROME 1 TREX1 None None MULIBREY NANISM TRIM37 None None PONTOCEREBELLAR HYPOPLASIA TYPE 4 TSEN54 Exon 1 95% or better COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 TSFM None None HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4 TSHB None None SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME TSPYL1 None None VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF TTPA Exon 1 95% or better LISSENCEPHALY 3 TUBA1a None None COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 TUFM None None MENTAL RETARDATION AUTOSOMAL RECESSIVE 7 TUSC3 None None ATYPICAL MYCOBACTERIOSIS, FAMILIAL TYK2 None None MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME TYMP Exons 8-10 moderate (75-95%) sensitivity SPINAL MUSCULAR ATROPHY, X-LINKED 2 UBA1 None None MENTAL RETARDATION X-LINKED SYNDROMIC UBE2A-RELATED UBE2A None None ANGELMAN SYNDROME UBE3A None None JOHANSON-BLIZZARD SYNDROME UBR1 None None HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 UNC13D None None HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1 UNC93B1 None None MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 UPF3B None None MITOCHONDRIAL COMPLEX III DEFICIENCY UQCRB None None PORPHYRIA, CONGENITAL ERYTHROPOIETIC UROS None None USHER SYNDROME, TYPE IC USH1C None None USHER SYNDROME, TYPE IG USH1G None None USHER SYNDROME, TYPE IIA USH2A None None VITAMIN D-DEPENDENT RICKETS, TYPE II VDR None None ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 VIPAR (aka VIPAS39) None None CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL VLDLR Exon 1 moderate (75-95%) sensitivity COHEN SYNDROME VPS13B None None ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS VPS33B None None WISKOTT-ALDRICH SYNDROME WAS None None ODONTOONYCHODERMAL DYSPLASIA WNT10A Exon 4 moderate (75-95%) sensitivity TETRA-AMELIA, AUTOSOMAL RECESSIVE WNT3 None None FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND WNT7A None None LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2 XIAP None None XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A XPA None None XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C XPC None None MENTAL RETARDATION X-LINKED SYNDROMIC ZDHHC9-RELATED ZDHHC9 None None MOWAT-WILSON SYNDROME ZEB2 None None HETEROTAXY, VISCERAL, 1, X-LINKED ZIC3 None None TIGHT SKIN CONTRACTURE SYNDROME, LETHAL ZMPSTE24 None None

9 Page 9 of BRITTLE CORNEA SYNDROME (Ehlers-Danlos syndrome type VIB) ZNF469 Exons 1, 2 moderate (75-95%) sensitivity MENTAL RETARDATION X-LINKED ZNF711-RELATED ZNF711 None None MITOCHONDRIAL COMPLEX III DEFICIENCY UQCRQ None None MITOCHONDRIAL GENOME MT-ATP6 None None MITOCHONDRIAL GENOME MT-ATP8 None None MITOCHONDRIAL GENOME MT-CO1 None None MITOCHONDRIAL GENOME MT-CO2 None None MITOCHONDRIAL GENOME MT-CO3 None None MITOCHONDRIAL GENOME MT-CYB None None MITOCHONDRIAL GENOME MT-ND1 None None MITOCHONDRIAL GENOME MT-ND2 None None MITOCHONDRIAL GENOME MT-ND3 None None MITOCHONDRIAL GENOME MT-ND4 None None MITOCHONDRIAL GENOME MT-ND4L None None MITOCHONDRIAL GENOME MT-ND5 None None MITOCHONDRIAL GENOME MT-ND6 None None MITOCHONDRIAL GENOME MT-RNR1 None None MITOCHONDRIAL GENOME MT-RNR2 None None MITOCHONDRIAL GENOME MT-TA None None MITOCHONDRIAL GENOME MT-TC None None MITOCHONDRIAL GENOME MT-TD None None MITOCHONDRIAL GENOME MT-TE None None MITOCHONDRIAL GENOME MT-TF None None MITOCHONDRIAL GENOME MT-TG None None MITOCHONDRIAL GENOME MT-TH None None MITOCHONDRIAL GENOME MT-TI None None MITOCHONDRIAL GENOME MT-TK None None MITOCHONDRIAL GENOME MT-TL1 None None MITOCHONDRIAL GENOME MT-TL2 None None MITOCHONDRIAL GENOME MT-TM None None MITOCHONDRIAL GENOME MT-TN None None MITOCHONDRIAL GENOME MT-TP None None MITOCHONDRIAL GENOME MT-TQ None None MITOCHONDRIAL GENOME MT-TR None None MITOCHONDRIAL GENOME MT-TS1 None None MITOCHONDRIAL GENOME MT-TS2 None None MITOCHONDRIAL GENOME MT-TT None None MITOCHONDRIAL GENOME MT-TV None None MITOCHONDRIAL GENOME MT-TW None None MITOCHONDRIAL GENOME MT-TY None None