Individual Genome Sequence Gene List (By Disease)

Transcription

1 Page 1 of 75 Individual Genome Sequence Gene List (By Disease) Disease Gene Symbol Inheritance Transcript Callability 17 Beta Hydroxysteroid Dehydrogenase III Deficiency HSD17B3 RECESSIVE NM_ Hydroxy 3 Methylglutaryl CoA Synthase 2 Deficiency HMGCS2 RECESSIVE NM_ Hydroxy 3 Methylglutaryl Coenzyme A Lyase Deficiency HMGCL RECESSIVE NM_ Hydroxyacyl Coenzyme A Dehydrogenase Deficiency HADH RECESSIVE NM_ M Syndrome CUL7 RECESSIVE NM_ OBSL1 RECESSIVE NM_ MCC Deficiency MCCC1 RECESSIVE NM_ MCCC2 RECESSIVE NM_ Methylglutaconic Aciduria, Type 1 AUH RECESSIVE NM_ Methylglutaconic Aciduria, Type 2 TAZ X_LINKED NM_ Methylglutaconic Aciduria, Type 3 OPA3 RECESSIVE NM_ Methylglutaconic Aciduria, Type 5 DNAJC19 RECESSIVE NM_ ,XY DSD/46,XY CGD DHH RECESSIVE NM_ Pyruvoyltetrahydropterin Synthase Deficiency PTS RECESSIVE NM_ ABCA4 Related Disorders ABCA4 RECESSIVE (Rec/Dom) NM_ Abetalipoproteinemia MTTP RECESSIVE NM_ ACAD9 Deficiency ACAD9 RECESSIVE NM_ Aceruloplasminemia CP RECESSIVE NM_ Achalasia Addisonianism Alacrima Syndrome AAAS RECESSIVE NM_ Achondrogenesis SLC26A2 RECESSIVE NM_ TRIP11 RECESSIVE NM_ Achromatopsia CNGA3 RECESSIVE NM_

2 Page 2 of 75 CNGB3 RECESSIVE NM_ Achromatopsia GNAT2 RECESSIVE NM_ PDE6C RECESSIVE NM_ Acid Sphingomyelinase Deficiency SMPD1 RECESSIVE NM_ Acid Labile Subunit Deficiency IGFALS RECESSIVE NM_ Acrocallosal Syndrome KIF7 RECESSIVE NM_ Acrodermatitis Enteropathica SLC39A4 RECESSIVE NM_ Acrodysostosis PDE4D DOMINANT NM_ PRKAR1A DOMINANT NM_ Acromesomelic Dysplasia GDF5 RECESSIVE NM_ NPR2 RECESSIVE NM_ Acromicric Dysplasia FBN1 DOMINANT NM_ ACTH Deficiency TBX19 RECESSIVE NM_ Acute Hepatic Porphyria ALAD RECESSIVE NM_ Acute Infantile Liver Failure TRMU RECESSIVE NM_ Acute Recurrent Myoglobinuria LPIN1 RECESSIVE NM_ Acyl CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB RECESSIVE NM_ Adams Oliver Syndrome ARHGAP31 DOMINANT NM_ Adenine Phosphoribosyltransferase Deficiency APRT RECESSIVE NM_ Adenosine Deaminase Deficiency ADA RECESSIVE NM_ Adenylosuccinase Deficiency ADSL RECESSIVE NM_ Adrenoleukodystrophy, X linked ABCD1 X_LINKED NM_ Adult i Blood Group With or Without Congenital Cataract GCNT2 RECESSIVE NM_ Adult Polyglucosan Body Disease GBE1 RECESSIVE NM_ Agammaglobulinemia, X linked BTK X_LINKED NM_ Age Related Cortical Cataract EPHA2 DOMINANT NM_ RNASEH2A RECESSIVE NM_ RNASEH2B RECESSIVE NM_ Aicardi Goutieres Syndrome RNASEH2C RECESSIVE NM_ SAMHD1 RECESSIVE NM_ TREX1 RECESSIVE NM_

3 Page 3 of 75 Alagille Syndrome JAG1 DOMINANT NM_ Aldolase A Deficiency ALDOA RECESSIVE NM_ Alexander Disease GFAP DOMINANT NM_ Alkaptonuria HGD RECESSIVE NM_ Alopecia and T Cell Immunodeficiency FOXN1 RECESSIVE NM_ Alopecia Universalis HR RECESSIVE NM_ Alpha 1 Antitrypsin Deficiency SERPINA1 RECESSIVE NM_ Alpha B Crystallinopathy CRYAB RECESSIVE NM_ Alpha Mannosidosis MAN2B1 RECESSIVE NM_ Alpha Methylacyl CoA Racemase Deficiency AMACR RECESSIVE NM_ Alpha Sarcoglycanopathy SGCA RECESSIVE NM_ Alport Syndrome COL4A3 RECESSIVE (Rec/Dom) NM_ COL4A4 RECESSIVE (Rec/Dom) NM_ ALS2 Related Spectrum Disorders ALS2 RECESSIVE NM_ Alstrom Syndrome ALMS1 RECESSIVE NM_ Alternating Hemiplegia of Childhood ATP1A2 DOMINANT NM_ ATP1A3 DOMINANT NM_ Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins FOXF1 DOMINANT NM_ Amelogenesis Imperfecta, Dominant DLX3 RECESSIVE (Rec/Dom) NM_ ENAM RECESSIVE (Rec/Dom) NM_ Amelogenesis Imperfecta, Recessive MMP20 RECESSIVE (Rec/Dom) NM_ WDR72 RECESSIVE (Rec/Dom) NM_ Amish Infantile Epilepsy Syndrome ST3GAL5 RECESSIVE NM_ Amish Lethal Microcephaly SLC25A19 RECESSIVE NM_ Amyloidosis GSN DOMINANT NM_ ANG DOMINANT NM_ FIG4 DOMINANT NM_ Amyotrophic Lateral Sclerosis, Dominant FUS DOMINANT NM_ SETX DOMINANT NM_ SOD1 DOMINANT NM_

4 Page 4 of 75 TARDBP DOMINANT NM_ Amyotrophic Lateral Sclerosis, Dominant UBQLN2 X_LINKED NM_ VAPB DOMINANT NM_ VCP DOMINANT NM_ Amyotrophic Lateral Sclerosis, Recessive ALS2 RECESSIVE NM_ OPTN RECESSIVE NM_ Amyotrophic Lateral Sclerosis/Frontotemporal Dementia C9orf72 DOMINANT NM_ Andersen Tawil Syndrome KCNJ2 DOMINANT NM_ Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas KRIT1 DOMINANT NM_ Aniridia PAX6 DOMINANT NM_ Aniridia, Cerebellar Ataxia, And Intellectual Disability PAX6 RECESSIVE (Rec/Dom) NM_ ANO5 Related Muscle Diseases ANO5 RECESSIVE NM_ Anophthalmia PAX6 RECESSIVE NM_ Anophthalmia/Microphthalmia RAX RECESSIVE (Rec/Dom) NM_ SIX6 RECESSIVE (Rec/Dom) NM_ Antenatal Bartter Syndrome KCNJ1 RECESSIVE NM_ SLC12A1 RECESSIVE NM_ Anterior Segment Mesenchymal Dysgenesis PITX2 DOMINANT NM_ Antithrombin III Deficiency SERPINC1 DOMINANT NM_ APC Associated Polyposis Disorders APC DOMINANT NM_ Apert Syndrome FGFR2 DOMINANT NM_ Aplasia of Lacrimal and Salivary Glands FGF10 DOMINANT NM_ Aplastic Anemia IFNG RECESSIVE NM_ Apolipoprotein A II Deficiency APOA2 RECESSIVE NM_ TERT RECESSIVE NM_ Apolipoprotein C II Deficiency APOC2 RECESSIVE NM_ Arginase Deficiency ARG1 RECESSIVE NM_ Argininosuccinate Lyase Deficiency ASL RECESSIVE NM_ Aromatase Deficiency CYP19A1 RECESSIVE NM_ Aromatic L Amino Acid Decarboxylase Deficiency DDC RECESSIVE NM_ ARSACS SACS RECESSIVE NM_

5 Page 5 of 75 Arterial Tortuosity Syndrome SLC2A10 RECESSIVE NM_ MYH3 DOMINANT NM_ Arthrogryposis Multiplex Congenita TNNI2 DOMINANT NM_ TNNT3 DOMINANT NM_ TPM2 DOMINANT NM_ Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome VPS33B RECESSIVE NM_ Arts Syndrome PRPS1 X_LINKED NM_ Arylsulfatase A Deficiency ARSA RECESSIVE NM_ Aspartylglucosaminuria AGA RECESSIVE NM_ Asphyxiating Thoracic Dystrophy DYNC2H1 RECESSIVE NM_ C10orf2 DOMINANT NM_ Ataxia Neuropathy Spectrum Disorders IFT80 RECESSIVE NM_ TTC21B RECESSIVE NM_ WDR19 RECESSIVE NM_ Ataxia with Oculomotor Apraxia APTX RECESSIVE NM_ SETX RECESSIVE NM_ Ataxia with Vitamin E Deficiency TTPA RECESSIVE NM_ Ataxia Telangiectasia ATM RECESSIVE NM_ Ataxia Telangiectasia Like Disorder MRE11A RECESSIVE NM_ Atelosteogenesis SLC26A2 RECESSIVE NM_ Athabaskan Brainstem Dysgenesis Syndrome HOXA1 RECESSIVE NM_ Atransferrinemia TF RECESSIVE NM_ Atrial Septal Defect ACTC1 DOMINANT NM_ MYH6 DOMINANT NM_ Atrichia with Papular Lesions HR RECESSIVE NM_ Atypical Gaucher Disease PSAP DOMINANT NM_ C3 DOMINANT NM_ CD46 RECESSIVE (Rec/Dom) NM_ Atypical Hemolytic Uremic Syndrome CFB DOMINANT NM_ CFH DOMINANT (Dom/Rec) NM_ CFI DOMINANT NM_

6 Page 6 of 75 Atypical Hemolytic Uremic Syndrome THBD DOMINANT NM_ Atypical Werner Syndrome LMNA DOMINANT NM_ Auriculocondylar Syndrome PLCB4 DOMINANT NM_ Autoimmune Lymphoproliferative Syndrome CASP10 DOMINANT NM_ PSMB8 RECESSIVE NM_ Autoinflammation, Lipodystrophy, and Dermatosis Syndrome FAS DOMINANT NM_ FASLG DOMINANT NM_ Axenfeld Rieger Syndrome PITX2 DOMINANT NM_ Axonal Neuropathy GARS DOMINANT NM_ ARL6 RECESSIVE NM_ BBS1 RECESSIVE NM_ BBS10 RECESSIVE NM_ BBS12 RECESSIVE NM_ BBS2 RECESSIVE NM_ BBS4 RECESSIVE NM_ BBS7 RECESSIVE NM_ Bardet Biedl Syndrome BBS9 RECESSIVE NM_ CEP290 RECESSIVE NM_ MKKS RECESSIVE NM_ MKS1 RECESSIVE NM_ SDCCAG8 RECESSIVE NM_ TRIM32 RECESSIVE NM_ TTC8 RECESSIVE NM_ WDPCP RECESSIVE NM_ CIITA RECESSIVE NM_ Bare Lymphocyte Syndrome, Type II RFX5 RECESSIVE NM_ RFXAP RECESSIVE NM_ Bartter Syndrome BSND RECESSIVE NM_ Basal Laminar Drusen CFH DOMINANT NM_ Beare Stevenson Syndrome FGFR2 DOMINANT NM_ Benign Chronic Pemphigus ATP2C1 DOMINANT NM_

7 Page 7 of 75 Benign Familial Neonatal Infantile Seizures SCN2A DOMINANT NM_ Benign Familial Neonatal Seizures KCNQ3 DOMINANT NM_ Benign Hereditary Chorea NKX2 1 DOMINANT NM_ Benign Neonatal Epilepsy KCNQ3 DOMINANT NM_ Berardinelli Seip Congenital Lipodystrophy AGPAT2 RECESSIVE NM_ BSCL2 RECESSIVE NM_ Bernard Soulier Syndrome GP9 RECESSIVE (Rec/Dom) NM_ Best Vitelliform Macular Dystrophy BEST1 DOMINANT (Dom/Rec) NM_ Beta Mannosidosis MANBA RECESSIVE NM_ Beta Sarcoglycanopathy SGCB RECESSIVE NM_ Beta Thalassemia HBB RECESSIVE NM_ Beta Ureidopropionase Deficiency UPB1 RECESSIVE NM_ BH4 Deficient Hyperphenylalaninemia PCBD1 RECESSIVE NM_ QDPR RECESSIVE NM_ Bietti Crystalline Dystrophy CYP4V2 RECESSIVE NM_ Biotinidase Deficiency BTD RECESSIVE NM_ Birk Barel Intellectual Disability Dysmorphism Syndrome KCNK9 DOMINANT NM_ Birt Hogg Dube Syndrome FLCN DOMINANT NM_ Blau Syndrome NOD2 DOMINANT NM_ Bloom Syndrome BLM RECESSIVE NM_ BMP4 Related Syndromic Microphthalmia BMP4 DOMINANT NM_ Bohring Opitz Syndrome ASXL1 DOMINANT (Dom/Rec) NM_ Bosley Salih Alorainy Syndrome HOXA1 RECESSIVE NM_ BMPR1B DOMINANT (Dom/Rec) NM_ GDF5 DOMINANT (Dom/Rec) NM_ Brachydactyly IHH DOMINANT NM_ ROR2 DOMINANT NM_ TRPV4 DOMINANT NM_ Brain Small Vessel Disease with Hemorrhage COL4A1 DOMINANT NM_ Branchiootorenal Spectrum Disorders EYA1 DOMINANT NM_ SIX1 DOMINANT NM_

8 Page 8 of 75 Breast and Ovarian Cancer Susceptibility RAD51C DOMINANT NM_ RAD51D DOMINANT NM_ BARD1 DOMINANT NM_ Breast Cancer BRIP1 DOMINANT NM_ CHEK2 DOMINANT NM_ Brittle Cornea Syndrome PRDM5 RECESSIVE NM_ ZNF469 RECESSIVE NM_ Brody Myopathy ATP2A1 RECESSIVE (Rec/Dom) NM_ Brooke Spiegler Syndrome CYLD DOMINANT NM_ Bruck Syndrome PLOD2 RECESSIVE NM_ CACNA1C DOMINANT NM_ CACNB2 DOMINANT NM_ GPD1L DOMINANT NM_ Brugada Syndrome HCN4 DOMINANT NM_ KCNE3 DOMINANT NM_ SCN1B DOMINANT NM_ SCN3B DOMINANT NM_ SCN5A DOMINANT NM_ Budd Chiari Syndrome F5 RECESSIVE (Rec/Dom) NM_ JAK2 RECESSIVE (Rec/Dom) NM_ Buschke Ollendorff Syndrome LEMD3 DOMINANT NM_ Butyrylcholinesterase Deficiency BCHE RECESSIVE NM_ C Syndrome CD96 DOMINANT (Dom/Rec) NM_ C3 Deficiency C3 RECESSIVE NM_ Caffey Disease COL1A1 DOMINANT NM_ Calpainopathy CAPN3 RECESSIVE NM_ Campomelic Dysplasia SOX9 DOMINANT NM_ Canavan Disease ASPA RECESSIVE NM_ Capillary Malformation Arteriovenous Malformation Syndrome RASA1 DOMINANT NM_ Carbamoylphosphate Synthetase I Deficiency CPS1 RECESSIVE NM_ Cardiofaciocutaneous Syndrome BRAF DOMINANT NM_

9 Page 9 of 75 Cardiofaciocutaneous Syndrome KRAS DOMINANT NM_ MAP2K1 DOMINANT NM_ DSC2 DOMINANT NM_ DSG2 DOMINANT NM_ DSP DOMINANT NM_ Cardiomyopathy, ARVC JUP DOMINANT NM_ PKP2 DOMINANT NM_ RYR2 DOMINANT NM_ TGFB3 DOMINANT NM_ TMEM43 DOMINANT NM_ Carney Complex PRKAR1A DOMINANT NM_ Carnitine Palmitoyltransferase II Deficiency CPT2 RECESSIVE NM_ Carnitine Acylcarnitine Translocase Deficiency SLC25A20 RECESSIVE NM_ Carpenter Syndrome RAB23 RECESSIVE NM_ Caspase 8 Deficiency CASP8 RECESSIVE NM_ Cataract Microcornea Syndrome GJA8 DOMINANT NM_ BFSP2 DOMINANT NM_ CRYGD DOMINANT NM_ Cataracts HSF4 DOMINANT NM_ MIP DOMINANT NM_ PITX2 DOMINANT NM_ CASQ2 RECESSIVE NM_ Catecholaminergic Polymorphic Ventricular Tachycardia RYR2 DOMINANT NM_ TRDN RECESSIVE NM_ Caudal Dysgenesis Syndrome VANGL1 DOMINANT NM_ Caveolinopathies CAV3 DOMINANT (Dom/Rec) NM_ Cenani Lenz Syndactyly Syndrome LRP4 RECESSIVE NM_ Central Core Disease (Dominant/Recessive) RYR1 DOMINANT (Dom/Rec) NM_ Centronuclear Myopathy, Dominant DNM2 DOMINANT NM_ MYF6 RECESSIVE (Rec/Dom) NM_ Centronuclear Myopathy, Recessive BIN1 RECESSIVE (Rec/Dom) NM_

10 Page 10 of 75 Cerebellar Ataxia SYNE1 RECESSIVE NM_ Cerebellar Ataxia, Cayman type ATCAY RECESSIVE NM_ Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) NOTCH3 DOMINANT NM_ Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome SNAP29 RECESSIVE NM_ Cerebrooculofacioskeletal Syndrome ERCC6 RECESSIVE NM_ Cerebrotendinous Xanthomatosis CYP27A1 RECESSIVE NM_ CFTR Related Disorders CFTR RECESSIVE NM_ Chanarin Dorfman Syndrome ABHD5 RECESSIVE NM_ Char Syndrome TFAP2B DOMINANT NM_ Charcot Marie Tooth with Vocal Cord Paresis GDAP1 RECESSIVE NM_ DNM2 DOMINANT NM_ GDAP1 RECESSIVE NM_ Charcot Marie Tooth, Intermediate KARS RECESSIVE NM_ MPZ DOMINANT NM_ YARS DOMINANT NM_ EGR2 DOMINANT NM_ LITAF DOMINANT NM_ Charcot Marie Tooth, Type 1 MPZ DOMINANT NM_ NEFL DOMINANT NM_ PMP22 DOMINANT NM_ AARS DOMINANT NM_ DYNC1H1 DOMINANT NM_ GARS DOMINANT NM_ HSPB1 DOMINANT NM_ Charcot Marie Tooth, Type 2 HSPB8 DOMINANT NM_ KIF1B DOMINANT NM_ LMNA DOMINANT NM_ LRSAM1 DOMINANT (Dom/Rec) NM_ MED25 RECESSIVE NM_

11 Page 11 of 75 MFN2 DOMINANT (Dom/Rec) NM_ Charcot Marie Tooth, Type 2 RAB7A DOMINANT NM_ TRPV4 DOMINANT NM_ FGD4 RECESSIVE NM_ FIG4 RECESSIVE NM_ MTMR2 RECESSIVE NM_ Charcot Marie Tooth, Type 4 NDRG1 RECESSIVE NM_ PRX RECESSIVE NM_ SBF2 RECESSIVE NM_ SH3TC2 RECESSIVE NM_ Charcot Marie Tooth, X linked GJB1 X_LINKED NM_ PRPS1 X_LINKED NM_ CHARGE Syndrome CHD7 DOMINANT NM_ Chediak Higashi Syndrome LYST RECESSIVE NM_ Cherubism SH3BP2 DOMINANT (Dom/Rec) NM_ Chilblain Lupus SAMHD1 DOMINANT NM_ Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter Childhood Restrictive Cardiomyopathy EIF2B1 RECESSIVE NM_ EIF2B2 RECESSIVE NM_ EIF2B3 RECESSIVE NM_ EIF2B4 RECESSIVE NM_ EIF2B5 RECESSIVE NM_ ACTA1 DOMINANT NM_ ACTC1 DOMINANT NM_ Chitotriosidase Deficiency CHIT1 RECESSIVE NM_ Cholesterol Ester Storage Disease LIPA RECESSIVE NM_ Chondrocalcinosis ANKH DOMINANT NM_ GDF5 RECESSIVE NM_ Chondrodysplasia IMPAD1 RECESSIVE NM_ PTH1R RECESSIVE NM_ Chorea acanthocytosis VPS13A RECESSIVE NM_

12 Page 12 of 75 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress NKX2 1 DOMINANT NM_ Choroidal Dystrophy PRPH2 DOMINANT (Dom/Rec) NM_ Chronic Granulomatous Disease NCF2 RECESSIVE NM_ NCF4 RECESSIVE NM_ Chronic Infantile Neurological Cutaneous and Articular Syndrome NLRP3 DOMINANT NM_ CHST3 Related Skeletal Dysplasia CHST3 RECESSIVE NM_ Citrin Deficiency SLC25A13 RECESSIVE NM_ Citrullinemia ASS1 RECESSIVE NM_ BMP4 DOMINANT NM_ Cleft Lip +/ Cleft Palate, Autosomal Dominant IRF6 DOMINANT NM_ SUMO1 DOMINANT NM_ TP63 DOMINANT NM_ Cleft Lip +/ Cleft Palate, Autosomal Recessive NECTIN1 RECESSIVE NM_ Cleft Palate, X Linked TBX22 X_LINKED NM_ Cleidocranial Dysplasia RUNX2 DOMINANT NM_ Cockayne Syndrome ERCC6 RECESSIVE NM_ ERCC8 RECESSIVE NM_ Coenzyme Q10 deficiency, Oculomotor Apraxia Type APTX RECESSIVE NM_ Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type ADCK3 RECESSIVE NM_ Coffin Siris Syndrome SMARCA4 DOMINANT NM_ SMARCB1 DOMINANT NM_ Cohen Syndrome VPS13B RECESSIVE NM_ COL6A1 DOMINANT (Dom/Rec) NM_ Collagen Type VI Related Disorders COL6A2 DOMINANT (Dom/Rec) NM_ COL6A3 DOMINANT (Dom/Rec) NM_ Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies PIGL RECESSIVE NM_ Syndrome Colorectal Cancer CHEK2 DOMINANT NM_

13 Page 13 of 75 Combined Deficiency of Factor V and Factor VIII LMAN1 RECESSIVE NM_ MCFD2 RECESSIVE NM_ AARS2 RECESSIVE NM_ AIFM1 X_LINKED NM_ C12orf65 RECESSIVE NM_ EARS2 RECESSIVE NM_ Combined Oxidative Phosphorylation Deficiency GFM1 RECESSIVE NM_ MRPS16 RECESSIVE NM_ MRPS22 RECESSIVE NM_ TSFM RECESSIVE NM_ TUFM RECESSIVE NM_ Combined Pituitary Hormone Deficiency, Dominant LHX4 DOMINANT NM_ OTX2 DOMINANT NM_ Combined Pituitary Hormone Deficiency, Dominant/Recessive HESX1 RECESSIVE (Rec/Dom) NM_ LHX3 RECESSIVE NM_ Combined Pituitary Hormone Deficiency, Recessive POU1F1 RECESSIVE (Rec/Dom) NM_ PROP1 RECESSIVE NM_ Combined Saposin Deficiency PSAP RECESSIVE NM_ Common Variable Immune Deficiency, Dominant TNFRSF13B DOMINANT (Dom/Rec) NM_ CD19 DOMINANT (Dom/Rec) NM_ Common Variable Immune Deficiency, Recessive ICOS RECESSIVE NM_ TNFRSF13C RECESSIVE NM_ Complement Component C2 Deficiency C2 RECESSIVE NM_ Cone Dystrophy GUCA1A DOMINANT NM_ CRX DOMINANT NM_ PITPNM3 DOMINANT NM_ PROM1 DOMINANT NM_ Cone Rod Dystrophy, Dominant PRPH2 DOMINANT NM_ RAX2 DOMINANT NM_ RIMS1 DOMINANT NM_ UNC119 DOMINANT NM_

14 Page 14 of 75 ADAM9 RECESSIVE NM_ C8orf37 RECESSIVE NM_ Cone Rod Dystrophy, Recessive CDHR1 RECESSIVE NM_ PDE6C RECESSIVE NM_ RPGRIP1 RECESSIVE NM_ SEMA4A RECESSIVE NM_ CYP11B1 RECESSIVE NM_ Congenital Adrenal Hyperplasia CYP17A1 RECESSIVE NM_ HSD3B2 RECESSIVE NM_ STAR RECESSIVE NM_ Congenital Adrenal Insufficiency CYP11A1 RECESSIVE (Rec/Dom) NM_ FGA RECESSIVE NM_ Congenital Afibrinogenemia FGB RECESSIVE NM_ FGG RECESSIVE NM_ Congenital Amegakaryocytic Thrombocytopenia MPL RECESSIVE NM_ Congenital Aural Atresia TSHZ1 DOMINANT NM_ Congenital Bile Acid Synthesis Defect AKR1D1 RECESSIVE NM_ CYP7B1 RECESSIVE NM_ AGK RECESSIVE NM_ Congenital Cataract CRYAA RECESSIVE NM_ FYCO1 RECESSIVE NM_ TDRD7 RECESSIVE NM_ Congenital Central Hypoventilation Syndrome PHOX2B DOMINANT NM_ Congenital Contractural Arachnodactyly FBN2 DOMINANT NM_ ALG11 RECESSIVE NM_ ALG12 RECESSIVE NM_ ALG2 RECESSIVE NM_ Congenital Disorders of Glycosylation ALG3 RECESSIVE NM_ ALG6 RECESSIVE NM_ ALG8 RECESSIVE NM_ ALG9 RECESSIVE NM_

15 Page 15 of 75 B4GALT1 RECESSIVE NM_ COG1 RECESSIVE NM_ COG4 RECESSIVE NM_ COG5 RECESSIVE NM_ COG6 RECESSIVE NM_ COG7 RECESSIVE NM_ COG8 RECESSIVE NM_ DDOST RECESSIVE NM_ DOLK RECESSIVE NM_ DPAGT1 RECESSIVE NM_ DPM1 RECESSIVE NM_ DPM2 RECESSIVE NM_ Congenital Disorders of Glycosylation DPM3 RECESSIVE NM_ MGAT2 RECESSIVE NM_ MOGS RECESSIVE NM_ MPDU1 RECESSIVE NM_ MPI RECESSIVE NM_ PGM1 RECESSIVE NM_ PMM2 RECESSIVE NM_ RFT1 RECESSIVE NM_ SLC35A1 RECESSIVE NM_ SLC35C1 RECESSIVE NM_ SRD5A3 RECESSIVE NM_ TMEM165 RECESSIVE NM_ TUSC3 RECESSIVE NM_ CDAN1 RECESSIVE NM_ Congenital Dyserythropoietic Anemia KLF1 DOMINANT NM_ SEC23B RECESSIVE NM_ Congenital Erythropoietic Porphyria UROS RECESSIVE NM_ Congenital Fiber Type Disproportion ACTA1 DOMINANT NM_ TPM3 RECESSIVE NM_

16 Page 16 of 75 Congenital Fibrosis of the Extraocular Muscles KIF21A DOMINANT NM_ Congenital Finnish Nephrosis NPHS1 RECESSIVE NM_ Congenital Glutamine Deficiency GLUL RECESSIVE NM_ Congenital heart defects 1, Nonsyndromic, 1 ZIC3 X LINKED NM_ Congenital Hypomyelinating Neuropathy MPZ RECESSIVE NM_ Congenital Hypomyelination MPZ RECESSIVE NM_ DUOX2 RECESSIVE NM_ IYD RECESSIVE NM_ Congenital Hypothyroidism PAX8 RECESSIVE NM_ TPO RECESSIVE NM_ TSHB RECESSIVE NM_ TSHR RECESSIVE NM_ ABCA12 RECESSIVE NM_ ALOX12B RECESSIVE NM_ ALOXE3 RECESSIVE NM_ Congenital Ichthyosis CYP4F22 RECESSIVE NM_ NIPAL4 RECESSIVE NM_ PNPLA1 RECESSIVE NM_ TGM1 RECESSIVE NM_ Congenital Indifference to Pain SCN9A RECESSIVE NM_ Congenital Insensitivity to Pain with Anhidrosis NTRK1 RECESSIVE NM_ Congenital Lactase Deficiency LCT RECESSIVE NM_ ISPD RECESSIVE NM_ Congenital Muscular Dystrophy, alpha dystroglycan related LARGE RECESSIVE NM_ POMGNT1 RECESSIVE NM_ Congenital Muscular Dystrophy, CHKB related CHKB RECESSIVE NM_ Congenital Muscular Dystrophy, ITGA7 related ITGA7 RECESSIVE NM_ Congenital Muscular Dystrophy, LAMA2 related LAMA2 RECESSIVE NM_ Congenital Muscular Dystrophy, LMNA related LMNA DOMINANT NM_ Congenital Myasthenic Syndrome, Dominant/Recessive CHRNA1 RECESSIVE NM_ CHRNB1 RECESSIVE NM_

17 Page 17 of 75 Congenital Myasthenic Syndrome, Dominant/Recessive CHRND RECESSIVE NM_ CHRNE RECESSIVE NM_ COLQ RECESSIVE NM_ GFPT1 RECESSIVE NM_ Congenital Myasthenic Syndrome, Recessive MUSK RECESSIVE NM_ RAPSN RECESSIVE NM_ SCN4A RECESSIVE NM_ Congenital Neuromuscular Disease with Uniform Type 1 Fiber RYR1 RECESSIVE NM_ Congenital Nuclear Cataract CRYBB1 RECESSIVE NM_ CRYBB3 RECESSIVE NM_ GNAT1 DOMINANT NM_ Congenital Stationary Night Blindness, Dominant PDE6B DOMINANT NM_ RHO DOMINANT NM_ CABP4 RECESSIVE NM_ GPR179 RECESSIVE NM_ Congenital Stationary Night Blindness, Recessive LRIT3 RECESSIVE NM_ SLC24A1 RECESSIVE NM_ TRPM1 RECESSIVE NM_ Congenital Stationary Night Blindness, X linked NYX X LINKED NM_ Congenital Stromal Corneal Dystrophy DCN DOMINANT NM_ Congenital Sucrase Isomaltase Deficiency SI RECESSIVE NM_ Congenital Vertical Talus HOXD10 DOMINANT NM_ Corneal Dystrophy, Dominant TGFBI DOMINANT NM_ Corneal Dystrophy, Dominant/Recessive TACSTD2 DOMINANT (Dom/Rec) NM_ Corneal Dystrophy, Recessive CYP4V2 RECESSIVE NM_ SLC4A11 RECESSIVE NM_ Corneal Fleck Dystrophy PIKFYVE DOMINANT NM_ NIPBL DOMINANT NM_ Cornelia de Lange Syndrome SMC1A X_LINKED NM_ SMC3 DOMINANT NM_ Cortical Dysplasia Focal Epilepsy Syndrome CNTNAP2 RECESSIVE NM_

18 Page 18 of 75 Cortical Pulverulent Cataract LIM2 RECESSIVE NM_ Corticosterone Methyloxidase Type I Deficiency CYP11B2 RECESSIVE NM_ Corticosterone Methyloxidase Type II Deficiency CYP11B2 RECESSIVE NM_ IFT122 RECESSIVE NM_ Cranioectodermal Dysplasia IFT43 RECESSIVE NM_ WDR19 RECESSIVE NM_ WDR35 RECESSIVE NM_ Craniofacial Deafness Hand Syndrome PAX3 DOMINANT NM_ Craniometaphyseal Dysplasia ANKH DOMINANT NM_ FGFR1 DOMINANT NM_ Craniosynostosis FGFR2 DOMINANT NM_ MSX2 DOMINANT NM_ Crigler Najjar Syndrome UGT1A1 RECESSIVE NM_ Crohn Disease NOD2 DOMINANT NM_ Crouzon Syndrome FGFR2 DOMINANT NM_ Cutaneous Malignant Melanoma, Dominant CDK4 DOMINANT NM_ Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities LTBP4 RECESSIVE NM_ Cutis Laxa, Dominant ELN DOMINANT NM_ Cutis Laxa, Dominant/Recessive FBLN5 DOMINANT (Dom/Rec) NM_ ALDH18A1 RECESSIVE NM_ Cutis Laxa, Recessive ATP6V0A2 RECESSIVE NM_ EFEMP2 RECESSIVE NM_ PYCR1 RECESSIVE NM_ Cystathioninuria CTH RECESSIVE NM_ Cystic Fibrosis Like Syndrome SCNN1A DOMINANT NM_ Cystinosis CTNS RECESSIVE NM_ Cystinuria SLC3A1 RECESSIVE NM_ SLC7A9 RECESSIVE NM_ Cytochrome P450 Oxidoreductase Deficiency POR RECESSIVE NM_ D 2 Hydroxyglutaric Aciduria D2HGDH RECESSIVE NM_

19 Page 19 of 75 Danon Disease LAMP2 X_LINKED NM_ Darier White Disease ATP2A2 DOMINANT NM_ Delta Sarcoglycanopathy SGCD RECESSIVE NM_ Dementia, Deafness, and Sensory Neuropathy DNMT1 DOMINANT NM_ Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFH RECESSIVE NM_ CFHR5 RECESSIVE NM_ Dent Disease CLCN5 X_LINKED NM_ Desbuquois Dysplasia CANT1 RECESSIVE NM_ Desminopathy DES RECESSIVE (Rec/Dom) NM_ Desmosterolosis DHCR24 RECESSIVE NM_ Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans INSR RECESSIVE (Rec/Dom) NM_ Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism GLIS3 RECESSIVE NM_ Diabetes Mellitus, Noninsulin Dependent, with Acanthosis Nigricans and Hypertension PPARG DOMINANT NM_ RPL11 DOMINANT NM_ RPL35A DOMINANT NM_ RPL5 DOMINANT NM_ Diamond Blackfan Anemia RPS10 DOMINANT NM_ RPS19 DOMINANT NM_ RPS24 DOMINANT NM_ RPS26 DOMINANT NM_ RPS7 DOMINANT NM_ Diaphanospondylodysostosis BMPER RECESSIVE NM_ Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma MTAP DOMINANT NM_ Diarrhea with Microvillus Atrophy MYO5B RECESSIVE NM_ Diastrophic Dysplasia SLC26A2 RECESSIVE NM_ Dicarboxylicaminoaciduria SLC1A1 RECESSIVE NM_ Diffuse Mesangial Sclerosis Syndromes (DMS) WT1 DOMINANT NM_ Dihydropyrimidinase Deficiency DPYS RECESSIVE NM_ Dihydropyrimidine Dehydrogenase Deficiency DPYD RECESSIVE NM_

20 Page 20 of 75 Dilated Cardiomyopathy, Dominant Dilated Cardiomyopathy, Recessive ABCC9 DOMINANT NM_ ACTC1 DOMINANT NM_ ACTN2 DOMINANT NM_ ANKRD1 DOMINANT NM_ BAG3 DOMINANT NM_ CSRP3 DOMINANT NM_ CTF1 DOMINANT NM_ DES DOMINANT NM_ DSG2 DOMINANT NM_ EYA4 DOMINANT NM_ LDB3 DOMINANT NM_ LMNA DOMINANT NM_ MYBPC3 DOMINANT NM_ MYH6 DOMINANT NM_ MYH7 DOMINANT NM_ NEXN DOMINANT NM_ PLN DOMINANT NM_ PSEN1 DOMINANT NM_ PSEN2 DOMINANT NM_ RBM20 DOMINANT NM_ SCN5A DOMINANT NM_ SGCD DOMINANT NM_ TCAP DOMINANT NM_ TMPO DOMINANT NM_ TNNC1 DOMINANT NM_ TNNT2 DOMINANT NM_ TPM1 DOMINANT NM_ TTN DOMINANT NM_ VCL DOMINANT NM_ FKTN RECESSIVE NM_ TNNI3 RECESSIVE NM_

21 Page 21 of 75 Dilated Cardiomyopathy, X Linked DMD X_LINKED NM_ TAZ X_LINKED NM_ LMBRD1 RECESSIVE NM_ MMACHC RECESSIVE NM_ Disorders of Intracellular Cobalamin Metabolism MMADHC RECESSIVE NM_ MTR RECESSIVE NM_ MTRR RECESSIVE NM_ Distal Arthrogryposis MYBPC1 DOMINANT NM_ Distal Arthrogryposis Multiplex Congenita TNNI2 DOMINANT NM_ TNNT3 DOMINANT NM_ Distal Congenital Nonprogressive Spinal Muscular Atrophy TRPV4 DOMINANT NM_ DCTN1 DOMINANT NM_ Distal Hereditary Motor Neuronopathy HSPB1 DOMINANT NM_ HSPB3 DOMINANT NM_ HSPB8 DOMINANT NM_ Distal Myopathy MATR3 DOMINANT NM_ Distal Renal Tubular Acidosis with Progressive Nerve Deafness ATP6V1B1 RECESSIVE NM_ Distal Renal Tubular Acidosis, Dominant SLC4A1 DOMINANT NM_ Distal Renal Tubular Acidosis, Recessive ATP6V0A4 RECESSIVE NM_ Distal Spinal Muscular Atrophy GARS DOMINANT NM_ PLEKHG5 RECESSIVE NM_ Donnai Barrow Syndrome LRP2 RECESSIVE NM_ Donohue Syndrome INSR RECESSIVE NM_ Dopamine Beta Hydroxylase Deficiency DBH RECESSIVE NM_ Dopa Responsive Dystonia GCH1 DOMINANT NM_ SPR RECESSIVE (Rec/Dom) NM_ Doyne Honeycomb Retinal Dystrophy EFEMP1 DOMINANT NM_ Dravet Syndrome GABRG2 DOMINANT NM_ SCN9A DOMINANT NM_ Duane Syndrome CHN1 DOMINANT NM_ Dubin Johnson Syndrome ABCC2 RECESSIVE NM_

22 Page 22 of 75 Dyggve Melchior Clausen Syndrome DYM RECESSIVE NM_ Dysalbuminemic Hyperthyroxinemia ALB DOMINANT NM_ Dyschromatosis Symmetrica Hereditaria ADAR DOMINANT NM_ Dysferlinopathy DYSF RECESSIVE NM_ Dyskeratosis Congenita, Dominant TINF2 DOMINANT NM_ CTC1 RECESSIVE NM_ NHP2 RECESSIVE NM_ Dyskeratosis Congenita, Recessive NOP10 RECESSIVE NM_ TERT RECESSIVE NM_ WRAP53 RECESSIVE NM_ Dyssegmental Dysplasia HSPG2 RECESSIVE NM_ PRKRA RECESSIVE NM_ Dystonia SLC2A1 DOMINANT NM_ THAP1 DOMINANT NM_ TUBB4A DOMINANT NM_ Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease SLC30A10 RECESSIVE NM_ Dystrophic Epidermolysis Bullosa COL7A1 RECESSIVE (Rec/Dom) NM_ SCN2A DOMINANT NM_ Early Infantile Epileptic Encephalopathy, Autosomal Dominant SCN8A DOMINANT NM_ SPTAN1 DOMINANT NM_ STXBP1 DOMINANT NM_ Early Infantile Epileptic Encephalopathy, Autosomal Recessive PLCB1 RECESSIVE NM_ SLC25A22 RECESSIVE NM_ APP DOMINANT NM_ Early Onset Familial Alzheimer Disease PSEN1 DOMINANT NM_ PSEN2 DOMINANT NM_ Early Onset Primary Dystonia TOR1A DOMINANT NM_ Ectodermal Dysplasia, Anhidrotic, with T cell Immunodeficiency NFKBIA DOMINANT NM_ Ectodermal Dysplasia/Skin Fragility Syndrome DSP RECESSIVE NM_ PKP1 RECESSIVE NM_

23 Page 23 of 75 Ectopia Lentis ADAMTSL4 RECESSIVE NM_ FBN1 DOMINANT NM_ Ectrodactyly TP63 DOMINANT NM_ EEM Syndrome CDH3 RECESSIVE NM_ Ehlers Danlos Syndrome, Arthrochalasia Type COL1A2 DOMINANT NM_ Ehlers Danlos Syndrome, Dermatosparaxis Type ADAMTS2 RECESSIVE NM_ Ehlers Danlos Syndrome, Kyphoscoliotic Form PLOD1 RECESSIVE NM_ COL1A1 DOMINANT NM_ Ehlers Danlos Syndrome, Type VIIA COL5A1 DOMINANT NM_ COL5A2 DOMINANT NM_ Ehlers Danlos Syndrome, Vascular Type COL3A1 DOMINANT NM_ Elliptocytosis SPTA1 DOMINANT NM_ SPTB DOMINANT NM_ Ellis van Creveld Syndrome EVC RECESSIVE NM_ EVC2 RECESSIVE NM_ LMNA DOMINANT NM_ Emery Dreifuss Muscular Dystrophy SYNE1 DOMINANT NM_ SYNE2 DOMINANT NM_ Endocardial Fibroelastosis TAZ X_LINKED NM_ Enhanced S Cone Syndrome NR2E3 RECESSIVE NM_ Enlarged Parietal Foramina ALX4 DOMINANT NM_ MSX2 DOMINANT NM_ Epidermolysis Bullosa Simplex KRT5 DOMINANT NM_ Epidermolysis Bullosa with Pyloric Atresia ITGA6 RECESSIVE NM_ ITGB4 RECESSIVE NM_ Epidermolysis Bullosa, Lethal Acantholytic DSP RECESSIVE NM_ Epidermolytic Hyperkeratosis KRT1 DOMINANT NM_ Epidermolytic Palmoplantar Keratoderma KRT9 DOMINANT NM_ Epilepsy with Neurodevelopmental Defects GRIN2A DOMINANT NM_ Epileptic Encephalopathy MAPK10 DOMINANT NM_ PNKP RECESSIVE NM_

24 Page 24 of 75 Epimerase Deficiency Galactosemia GALE RECESSIVE NM_ CACNB4 DOMINANT NM_ Episodic Ataxia KCNA1 DOMINANT NM_ SLC1A3 DOMINANT NM_ Erosive Vitreoretinopathy VCAN DOMINANT NM_ Erythrocyte AMP Deaminase Deficiency AMPD3 RECESSIVE NM_ Erythrokeratodermia Variabilis GJB3 DOMINANT (Dom/Rec) NM_ Erythropoietic Protoporphyria FECH DOMINANT (Dom/Rec) NM_ Escobar Syndrome CHRNG RECESSIVE NM_ Essential Fructosuria KHK RECESSIVE NM_ Essential Thrombocythemia MPL DOMINANT NM_ THPO DOMINANT NM_ Ethylmalonic Encephalopathy ETHE1 RECESSIVE NM_ Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis COX4I2 RECESSIVE NM_ Fabry Disease GLA X_LINKED NM_ Factor V Cambridge Thrombophilia F5 DOMINANT NM_ Factor V Deficiency F5 RECESSIVE NM_ Factor V Leiden Thrombophilia F5 DOMINANT NM_ Factor V R2 Mutation Thrombophilia F5 DOMINANT NM_ Factor VII Deficiency F7 RECESSIVE NM_ Factor VII Marburg I Variant Thrombophilia HABP2 DOMINANT NM_ Factor X Deficiency F10 RECESSIVE NM_ Factor XI Deficiency (Dominant/Recessive) F11 RECESSIVE (Rec/Dom) NM_ Factor XII Deficiency F12 RECESSIVE NM_ Factor XIII Subunit A Deficiency F13A1 RECESSIVE NM_ Factor XIII Subunit B Deficiency F13B RECESSIVE NM_ ABCC9 DOMINANT NM_ Familial Atrial Fibrillation GJA5 DOMINANT NM_ KCNA5 DOMINANT NM_ KCNE2 DOMINANT NM_

25 Page 25 of 75 Familial Atrial Fibrillation KCNJ2 DOMINANT NM_ KCNQ1 DOMINANT NM_ Familial Atypical Mycobacteriosis, Autosomal Dominant STAT1 DOMINANT NM_ IFNGR1 RECESSIVE NM_ Familial Atypical Mycobacteriosis, Autosomal Recessive IL12B RECESSIVE NM_ IL12RB1 RECESSIVE NM_ TYK2 RECESSIVE NM_ Familial Bone Marrow Failure SRP72 DOMINANT NM_ Familial Candidiasis, Dominant IL17F DOMINANT NM_ Familial Candidiasis, Recessive CARD9 RECESSIVE NM_ IL17RA RECESSIVE NM_ Familial Cerebral Cavernous Malformation KRIT1 DOMINANT NM_ PDCD10 DOMINANT NM_ Familial Chloride Diarrhea SLC26A3 RECESSIVE NM_ Familial Cold Autoinflammatory Syndrome NLRP12 DOMINANT NM_ NLRP3 DOMINANT NM_ Familial Cylindromatosis CYLD DOMINANT NM_ Familial Dysautonomia IKBKAP RECESSIVE NM_ Familial Encephalopathy with Neuroserpin Inclusion Bodies SERPINI1 DOMINANT NM_ EGLN1 DOMINANT NM_ Familial Erythrocytosis EPAS1 DOMINANT NM_ EPOR DOMINANT NM_ Familial Exudative Vitreoretinopathy FZD4 DOMINANT NM_ TSPAN12 DOMINANT NM_ Familial Febrile Seizures SCN9A DOMINANT NM_ Familial Hemiplegic Migraine ATP1A2 DOMINANT NM_ SCN1A DOMINANT NM_ PRF1 RECESSIVE NM_ Familial Hemophagocytic Lymphohistiocytosis STX11 RECESSIVE NM_ STXBP2 RECESSIVE NM_ UNC13D RECESSIVE NM_

26 Page 26 of 75 Familial High Density Lipoprotein Deficiency ABCA1 DOMINANT NM_ APOA1 DOMINANT NM_ Familial Horizontal Gaze Palsy with Progressive Scoliosis ROBO3 RECESSIVE NM_ Familial Hyperaldosteronism KCNJ5 DOMINANT NM_ APOB DOMINANT NM_ Familial Hypercholesterolemia LDLR DOMINANT NM_ LDLRAP1 RECESSIVE NM_ PCSK9 DOMINANT NM_ Familial Hypertrophic Cardiomyopathy with Wolff Parkinson PRKAG2 DOMINANT NM_ White Syndrome TNNI3 DOMINANT NM_ Familial Hypobetalipoproteinemia APOB RECESSIVE (Rec/Dom) NM_ PCSK9 DOMINANT (Dom/Rec) NM_ Familial Hypocalciuric Hypercalcemia CASR DOMINANT NM_ Familial Idiopathic Basal Ganglia Calcification SLC20A2 DOMINANT NM_ Familial Infantile Myoclonic Epilepsy TBC1D24 RECESSIVE NM_ ABCB11 RECESSIVE NM_ Familial Intrahepatic Cholestasis ABCB4 RECESSIVE NM_ ATP8B1 RECESSIVE NM_ CASR DOMINANT NM_ Familial Isolated Hypoparathyroidism GCM2 RECESSIVE NM_ PTH DOMINANT (Dom/Rec) NM_ Familial Isolated Pituitary Adenomas AIP DOMINANT NM_ Familial Juvenile Hyperuricemic Nephropathy REN DOMINANT NM_ Familial Lipoprotein Lipase Deficiency LPL RECESSIVE NM_ Familial Mediterranean Fever MEFV RECESSIVE NM_ Familial Paroxysmal Nonkinesigenic Dyskinesia PNKD DOMINANT NM_ LMNA DOMINANT NM_ Familial Partial Lipodystrophy PPARG DOMINANT NM_ PTRF RECESSIVE NM_ Familial Periodic Fever TNFRSF1A DOMINANT NM_

27 Page 27 of 75 Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia RUNX1 DOMINANT NM_ Familial Pulmonary Fibrosis SFTPC DOMINANT NM_ TERT DOMINANT NM_ Familial Restrictive Cardiomyopathy TNNI3 DOMINANT NM_ TNNT2 DOMINANT NM_ Familial Spinal Neurofibromatosis NF1 DOMINANT NM_ Familial Temporal Lobe Epilepsy CPA6 DOMINANT NM_ Familial Thrombotic Thrombocytopenia Purpura ADAMTS13 RECESSIVE NM_ Familial Transthyretin Amyloidosis TTR DOMINANT NM_ APOA1 DOMINANT NM_ Familial Visceral Amyloidosis FGA DOMINANT NM_ LYZ DOMINANT NM_ BRCA2 RECESSIVE NM_ BRIP1 RECESSIVE NM_ FANCA RECESSIVE NM_ FANCC RECESSIVE NM_ FANCD2 RECESSIVE NM_ FANCE RECESSIVE NM_ Fanconi Anemia FANCF RECESSIVE NM_ FANCG RECESSIVE NM_ FANCI RECESSIVE NM_ FANCL RECESSIVE NM_ FANCM RECESSIVE NM_ PALB2 RECESSIVE NM_ RAD51C RECESSIVE NM_ SLX4 RECESSIVE NM_ Fanconi Anemia, X Linked FANCB X_LINKED NM_ Fanconi Bickel Syndrome SLC2A2 RECESSIVE NM_ Farber Lipogranulomatosis ASAH1 RECESSIVE NM_ Fatal Infantile Cardioencephalomyopathy SCO2 RECESSIVE NM_

28 Page 28 of 75 Fatal Infantile Lactic Acidosis SUCLG1 RECESSIVE NM_ Fatty Acid Hydroxylase Associated Neurodegeneration FA2H RECESSIVE NM_ Fetal Akinesia Deformation Sequence RAPSN RECESSIVE NM_ Fibrochondrogenesis COL11A1 RECESSIVE (Rec/Dom) NM_ COL11A2 RECESSIVE (Rec/Dom) NM_ Fibrodysplasia Ossificans Progressiva ACVR1 DOMINANT NM_ Fibular Hypoplasia and Complex Brachydactyly GDF5 RECESSIVE NM_ FLNB Related Spectrum Disorders FLNB DOMINANT (Dom/Rec) NM_ Floating Harbor Syndrome SRCAP DOMINANT NM_ Focal Cortical Dysplasia of Taylor TSC1 DOMINANT NM_ CD2AP DOMINANT NM_ Focal Segmental Glomerulosclerosis INF2 DOMINANT NM_ TRPC6 DOMINANT NM_ Formiminotransferase Deficiency FTCD RECESSIVE NM_ Foveal Hypoplasia and Presenile Cataract Syndrome PAX6 DOMINANT NM_ Frank ter Haar Syndrome SH3PXD2B RECESSIVE NM_ FRAS1 RECESSIVE NM_ Fraser Syndrome FREM2 RECESSIVE NM_ GRIP1 RECESSIVE NM_ Free Sialic Acid Storage Disorders SLC17A5 RECESSIVE NM_ Freeman Sheldon Syndrome MYH3 DOMINANT (Dom/Rec) NM_ CHMP2B DOMINANT NM_ Frontotemporal Dementia GRN DOMINANT NM_ TARDBP DOMINANT NM_ Fructose 1,6 Bisphosphatase Deficiency FBP1 RECESSIVE NM_ Fucosidosis FUCA1 RECESSIVE NM_ Fukuyama Congenital Muscular Dystrophy FKTN RECESSIVE NM_ Fumarate Hydratase Deficiency FH RECESSIVE NM_ PRPH2 DOMINANT (Dom/Rec) NM_ Fundus Albipunctatus RDH5 DOMINANT (Dom/Rec) NM_ RLBP1 DOMINANT (Dom/Rec) NM_

29 Page 29 of 75 Furlong Syndrome TGFBR1 DOMINANT NM_ GABA Transaminase Deficiency ABAT RECESSIVE NM_ Galactokinase Deficiency GALK1 RECESSIVE NM_ Galactosemia GALT RECESSIVE NM_ Galactosialidosis CTSA RECESSIVE NM_ Gamma Sarcoglycanopathy SGCG RECESSIVE NM_ Gastrointestinal Stromal Tumor KIT DOMINANT NM_ PDGFRA DOMINANT NM_ Geleophysic Dysplasia ADAMTSL2 RECESSIVE NM_ FBN1 DOMINANT NM_ Generalized Arterial Calcification of Infancy ENPP1 RECESSIVE (Rec/Dom) NM_ Generalized Epilepsy and Paroxysmal Dyskinesia KCNMA1 DOMINANT NM_ GABRG2 DOMINANT NM_ Generalized Epilepsy with Febrile Seizures Plus SCN1B DOMINANT NM_ SCN9A DOMINANT NM_ Generalized Pustular Psoriasis IL36RN RECESSIVE NM_ Genetic Prion Diseases PRNP DOMINANT NM_ Geroderma Osteodysplasticum GORAB RECESSIVE NM_ Giant Axonal Neuropathy GAN RECESSIVE NM_ Gilbert Syndrome UGT1A1 RECESSIVE NM_ Gingival Fibromatosis SOS1 DOMINANT NM_ Gitelman Syndrome SLC12A3 RECESSIVE NM_ Glaucoma MYOC DOMINANT NM_ Global Cerebral Hypomyelination SLC25A12 RECESSIVE NM_ Glomuvenous Malformation GLMN DOMINANT NM_ Glucocorticoid Deficiency MC2R RECESSIVE NM_ MRAP RECESSIVE NM_ Glucocorticoid Resistance NR3C1 DOMINANT NM_ Glucocorticoid Remediable Aldosteronism CYP11B1 DOMINANT NM_ CYP11B2 DOMINANT NM_ Glucose Transporter Type 1 Deficiency Syndrome SLC2A1 DOMINANT NM_

30 Page 30 of 75 Glucose 6 Phosphate Dehydrogenase Deficiency G6PD X_LINKED NM_ Glucose Galactose Malabsorption SLC5A1 RECESSIVE NM_ Glutaric Acidemia GCDH RECESSIVE NM_ Glutathione Synthetase Deficiency GSS RECESSIVE NM_ Glycine Encephalopathy AMT RECESSIVE NM_ GLDC RECESSIVE NM_ Glycogen Storage Disease of Heart, Lethal Congenital PRKAG2 RECESSIVE NM_ Glycogen Storage Disease Type 0, Liver GYS2 RECESSIVE NM_ Glycogen Storage Disease Type 0, Muscle GYS1 RECESSIVE NM_ Glycogen Storage Disease Type I G6PC RECESSIVE NM_ SLC37A4 RECESSIVE NM_ Glycogen Storage Disease Type III AGL RECESSIVE NM_ Glycogen Storage Disease Type IV GBE1 RECESSIVE NM_ Glycogen Storage Disease Type V PYGM RECESSIVE NM_ Glycogen Storage Disease Type VI PYGL RECESSIVE NM_ Glycogen Storage Disease Type VII PFKM RECESSIVE NM_ Glycogen Storage Disease Type X PGAM2 RECESSIVE NM_ Glycogen Storage Disease Type XIII ENO3 RECESSIVE NM_ Glycogen Storage Disease Type XIV PGM1 RECESSIVE NM_ Glycogen Storage Disease XI LDHA RECESSIVE NM_ Glycogen Storage Disease, Type II GAA RECESSIVE NM_ Glycoprotein 1a Deficiency ITGA2 DOMINANT NM_ GM1 Gangliosidosis GLB1 RECESSIVE NM_ GM2 Activator Deficiency GM2A RECESSIVE NM_ GNE Related Myopathy GNE RECESSIVE NM_ Goldberg Shprintzen Megacolon Syndrome KIF1BP RECESSIVE NM_ Gracile Syndrome BCS1L RECESSIVE NM_ Gray Platelet Syndrome NBEAL2 RECESSIVE NM_ Greenberg Dysplasia LBR RECESSIVE NM_ Greig Cephalopolysyndactyly Syndrome GLI3 DOMINANT NM_ Griscelli Syndrome RAB27A RECESSIVE NM_

31 Page 31 of 75 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death FTO RECESSIVE NM_ GTP Cyclohydrolase 1 Deficiency (GTPCH) GCH1 RECESSIVE NM_ Guanidinoacetate Methyltransferase Deficiency GAMT RECESSIVE NM_ Haim Munk Syndrome CTSC RECESSIVE NM_ Hawkinsinuria HPD DOMINANT NM_ Hemoglobin E HBB RECESSIVE NM_ Hemolytic Anemia SLC4A1 DOMINANT NM_ Hemophilia A, FVIII Deficiency F8 X_LINKED NM_ Hemophilia B, Factor IX Deficiency F9 X_LINKED NM_ Hennekam Lymphangiectasia Lymphedema Syndrome CCBE1 RECESSIVE NM_ Hepatic Failure, Early Onset, and Neurologic Disorder due to Cytochrome C Oxidase Deficiency SCO1 RECESSIVE NM_ Hepatic Lipase Deficiency LIPC RECESSIVE NM_ Hepatic Veno occlusive Disease with Immunodeficiency SP110 RECESSIVE NM_ Hepatocerebral Mitochondrial DNA Depletion Syndrome MPV17 RECESSIVE NM_ Hereditary Angioedema F12 DOMINANT NM_ SERPING1 DOMINANT NM_ Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps COL4A1 DOMINANT NM_ Hereditary Breast and Ovarian Cancer BRCA1 DOMINANT NM_ BRCA2 DOMINANT NM_ Hereditary Coproporphyria CPOX DOMINANT NM_ Hereditary Diffuse Gastric Cancer CDH1 DOMINANT NM_ Hereditary Diffuse Leukoencephalopathy with Spheroids CSF1R DOMINANT NM_ Hereditary Essential Tremor DRD3 DOMINANT NM_ Hereditary Folate Malabsorption SLC46A1 RECESSIVE NM_ Hereditary Fructose Intolerance ALDOB RECESSIVE NM_ HFE RECESSIVE NM_ Hereditary Hemochromatosis SLC40A1 DOMINANT NM_ TFR2 RECESSIVE NM_