MULTIPLE CONGENITAL ANOMALIES GENE PANEL

Transcription

1 MULTIPLE CONGENITAL ANOMALIES GENE PANEL Gene Depth Coverage OMIM symbol (reads) (avg %) disease Description A4GALT NOR polyagglutination syndrome AAAS Achalasia-addisonianism-alacrimia syndrome AAGAB Keratoderma palmoplantar punctate type IA AARS Charcot-Marie-Tooth disease axonal type 2N AARS Combined oxidative phosphorylation deficiency 8 AASS Hyperlysinemia ABAT GABA-transaminase deficiency ABCA HDL deficiency type 2 ABCA Ichthyosis autosomal recessive 4B (harlequin) ABCA Surfactant metabolism dysfunction pulmonary 3 ABCA Cone-rod dystrophy 3 ABCB Cholestasis benign recurrent intrahepatic 2 ABCB Cholestasis intrahepatic of pregnancy 3 ABCB Microphthalmia isolated with coloboma 7 ABCB Anemia sideroblastic with ataxia ABCC Dubin-Johnson syndrome ABCC Arterial calcification generalized of infancy 2 ABCC Diabetes mellitus noninsulin-dependent ABCC Atrial fibrillation familial 12 ABCD Adrenoleukodystrophy ABCD Methylmalonic aciduria and homocystinuria cblj type ABCG Sitosterolemia ABCG Gallbladder disease 4 ABHD Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract ABHD Chanarin-Dorfman syndrome ABL Leukemia Philadelphia chromosome-positive ACAD Isobutyryl-CoA dehydrogenase deficiency ACAD ACAD9 deficiency

2 ACADM Acyl-CoA dehydrogenase medium chain deficiency of ACADS Acyl-CoA dehydrogenase short-chain deficiency of ACADSB methylbutyrylglycinuria ACADVL VLCAD deficiency ACAN Osteochondritis dissecans short stature and early-onset osteoarthritis ACAT Alpha-methylacetoacetic aciduria ACE Renal tubular dysgenesis ACO Infantile cerebellar-retinal degeneration ACOX Peroxisomal acyl-coa oxidase deficiency ACP Spondyloenchondrodysplasia with immune dysregulation ACSF Combined malonic and methylmalonic aciduria ACSL Mental retardation X-linked 63 ACSL Myelodysplastic syndrome ACTA Myopathy actin congenital with cores ACTA Aortic aneurysm familial thoracic 6 ACTB Baraitser-Winter syndrome 1 ACTC Atrial septal defect 5 ACTG Baraitser-Winter syndrome 2 ACTN Bleeding disorder platelet-type 15 ACTN Cardiomyopathy dilated 1AA ACTN Glomerulosclerosis focal segmental 1 ACVR Fibrodysplasia ossificans progressiva ACVR1B Pancreatic cancer ACVR2B Heterotaxy visceral 4 autosomal ACVRL Telangiectasia hereditary hemorrhagic type 2 ACY Aminoacylase 1 deficiency ADA Adenosine deaminase deficiency partial ADAM Inflammatory skin and bowel disease neonatal ADAM Cone-rod dystrophy 9 ADAMTS Weill-Marchesani syndrome 1 recessive ADAMTS Thrombotic thrombocytopenic purpura familial ADAMTS Weill-Marchesani-like syndrome ADAMTS Knobloch syndrome 2

3 ADAMTS Ehlers-Danlos syndrome type VIIC ADAMTSL Geleophysic dysplasia 1 ADAMTSL Ectopia lentis isolated autosomal recessive ADAR Aicardi-Goutieres syndrome 6 ADAT Mental retardation autosomal recessive 36 ADCK ADCY Dyskinesia familial with facial myokymia ADIPOQ Adiponectin deficiency ADK Hypermethioninemia due to adenosine kinase deficiency ADRB Beta-2-adrenoreceptor agonist ADSL Adenylosuccinase deficiency AFF Mental retardation X-linked FRAXE type AFG3L Ataxia spastic 5 autosomal recessive AGA Aspartylglucosaminuria AGK Cataract 38 autosomal recessive AGL Glycogen storage disease IIIa AGPAT Lipodystrophy congenital generalized type 1 AGPS Rhizomelic chondrodysplasia punctata type 3 AGRN Myasthenia limb-girdle familial AGT Renal tubular dysgenesis AGTR Hypertension essential AGTR Mental retardation X-linked 88 AGXT Hyperoxaluria primary type 1 AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AHI Joubert syndrome-3 AICDA Immunodeficiency with hyper-igm type 2 AIFM Combined oxidative phosphorylation deficiency 6 AIMP Leukodystrophy hypomyelinating 3 AIP Pituitary adenoma ACTH-secreting AIPL Cone-rod dystrophy AIRE Autoimmune polyendocrinopathy syndrome type I with or without reversible metaphyseal dysplasia AK Hemolytic anemia due to adenylate kinase deficiency AK Reticular dysgenesis

4 AKAP Long QT syndrome-11 AKR1C XY sex reversal 8 AKR1D Bile acid synthesis defect congenital 2 AKT Breast cancer somatic AKT Diabetes mellitus type II AKT Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ALAD Porphyria acute hepatic ALAS Anemia sideroblastic X-linked ALB ALDH18A Cutis laxa autosomal recessive type IIIA ALDH1A Microphthalmia isolated 8 ALDH Alcohol sensitivity acute ALDH3A Sjogren-Larsson syndrome ALDH4A Hyperprolinemia type II ALDH5A Succinic semialdehyde dehydrogenase deficiency ALDH6A Methylmalonate semialdehyde dehydrogenase deficiency ALDH7A Epilepsy pyridoxine-dependent ALDOA Glycogen storage disease XII ALDOB Fructose intolerance ALG Congenital disorder of glycosylation type Ik ALG Congenital disorder of glycosylation type Ip ALG Congenital disorder of glycosylation type Ig ALG Congenital disorder of glycosylation type Is ALG Congenital disorder of glycosylation type Ii ALG Congenital disorder of glycosylation type Id ALG Congenital disorder of glycosylation type Ic ALG Congenital disorder of glycosylation type Ih ALG Congenital disorder of glycosylation type Il ALMS Alstrom syndrome ALOX12B Ichthyosis congenital autosomal recessive 2 ALOXE Ichthyosis congenital autosomal recessive 3 ALPL Hypophosphatasia adult ALS Amyotrophic lateral sclerosis 2 juvenile

5 ALX Frontonasal dysplasia 3 ALX Frontonasal dysplasia 1 ALX Frontonasal dysplasia 2 AMACR Alpha-methylacyl-CoA racemase deficiency AMELX Amelogenesis imperfecta hypoplastic/hypomaturation type 1E AMH Persistent Mullerian duct syndrome type I AMHR Persistent Mullerian duct syndrome type II AMN Megaloblastic anemia-1 Norwegian type AMPD AMT Glycine encephalopathy ANG Amyotrophic lateral sclerosis 9 ANGPTL Hypobetalipoproteinemia familial 2 ANK Spherocytosis type 1 ANK Cardiac arrhythmia ankyrin-b-related ANKH Chondrocalcinosis 2 ANKK Dopamine receptor D2 ANKRD KBG syndrome ANKRD Thrombocytopenia 2 ANO Spinocerebellar ataxia autosomal recessive 10 ANO Dystonia 24 ANO Gnathodiaphyseal dysplasia ANO Scott syndrome ANTXR Hyaline fibromatosis syndrome AP1S MEDNIK syndrome AP1S Mental retardation X-linked syndromic Fried type AP2S Hypocalciuric hypercalcemia familial type III AP3B Hermansky-Pudlak syndrome 2 AP4B Spastic paraplegia 47 autosomal recessive AP4E Spastic paraplegia 51 autosomal recessive AP4M Spastic paraplegia 50 autosomal recessive AP4S Spastic paraplegia 52 autosomal recessive AP5Z Spastic paraplegia 48 autosomal recessive APC Adenoma periampullary

6 APCDD Hypotrichosis simplex APOA Amyloidosis 3 or more types APOA APOA Hyperchylomicronemia late-onset APOB Hypercholesterolemia due to ligand-defective apo B APOC Hyperlipoproteinemia type Ib APOC Hyperalphalipoproteinemia 2 APOE Alzheimer disease-2 APP Alzheimer disease 1 familial APRT Adenine phosphoribosyltransferase deficiency APTX Ataxia early-onset with oculomotor apraxia and hypoalbuminemia AQP Diabetes insipidus nephrogenic AR Androgen insensitivity ARFGEF Periventricular heterotopia with microcephaly ARG Argininemia ARHGAP Leukemia juvenile myelomonocytic ARHGAP Adams-Oliver syndrome 1 ARHGEF Slowed nerve conduction velocity AD ARHGEF Leukemia acute myeloid ARHGEF Mental retardation X-linked 46 ARHGEF Epileptic encephalopathy early infantile 8 ARID1A Mental retardation autosomal dominant 14 ARID1B Mental retardation autosomal dominant 12 ARL13B Joubert syndrome 8 ARL Bardet-Biedl syndrome 3 ARNT Leukemia ARSA Metachromatic leukodystrophy ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy) ARSE Chondrodysplasia punctata X-linked recessive ARX Epileptic encephalopathy early infantile 1 ASAH Farber lipogranulomatosis ASB Glaucoma 1 open angle F ASCC Barrett esophagus/esophageal adenocarcinoma

7 ASCL Central hypoventilation syndrome congenital ASL Argininosuccinic aciduria ASPA Canavan disease ASPM Microcephaly 5 primary autosomal recessive ASPSCR Alveolar soft-part sarcoma ASS Citrullinemia ASXL Bohring-Opitz syndrome ATCAY Ataxia cerebellar Cayman type ATIC AICA-ribosiduria due to ATIC deficiency ATL Neuropathy hereditary sensory type ID ATM Ataxia-telangiectasia ATN Dentatorubro-pallidoluysian atrophy ATP13A Parkinson disease 9 ATP1A Alternating hemiplegia of childhood ATP1A Alternating hemiplegia of childhood 2 ATP2A Brody myopathy ATP2A Acrokeratosis verruciformis ATP2B Spinocerebellar ataxia X-linked 1 ATP2C Hailey-Hailey disease ATP5E Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 ATP6AP Mental retardation X-linked with epilepsy ATP6V0A Cutis laxa autosomal recessive type IIA ATP6V0A Renal tubular acidosis distal autosomal recessive ATP6V1B ATP7A Menkes disease ATP7B Wilson disease ATP8B Cholestasis benign recurrent intrahepatic ATPAF Mitochondrial complex V (ATP synthase) deficiency nuclear type 1 ATR Cutaneous telangiectasia and cancer syndrome familial ATRX Alpha-thalassemia myelodysplasia syndrome somatic ATXN Spinocerebellar ataxia 1 ATXN Spinocerebellar ataxia 10 ATXN Spinocerebellar ataxia 2

8 ATXN Machado-Joseph disease ATXN Machado-Joseph disease ATXN Machado-Joseph disease ATXN Machado-Joseph disease ATXN Spinocerebellar ataxia 7 ATXN8OS Spinocerebellar ataxia 8 AUH methylglutaconic aciduria type I AVP Diabetes insipidus neurohypophyseal AVPR Diabetes insipidus nephrogenic AXIN Caudal duplication anomaly AXIN Colorectal cancer somatic B2M Hypoproteinemia hypercatabolic B3GALNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A 11 B3GALT Ehlers-Danlos syndrome progeroid type 2 B3GALTL Peters-plus syndrome B3GAT Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects B3GNT Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 13 B4GALNT Spastic paraplegia 26 autosomal recessive B4GALT Congenital disorder of glycosylation type IId B4GALT Ehlers-Danlos syndrome progeroid type 1 B9D Meckel syndrome 9 B9D Meckel syndrome 10 BAAT Hypercholanemia familial BAG Cardiomyopathy dilated 1HH BANF Nestor-Guillermo progeria syndrome BAP Tumor predisposition syndrome BAX T-cell acute lymphoblastic leukemia BBS Bardet-Biedl syndrome 1 BBS Bardet-Biedl syndrome 10 BBS Bardet-Biedl syndrome 12 BBS Bardet-Biedl syndrome 2 BBS Bardet-Biedl syndrome 4 BBS Bardet-Biedl syndrome 5

9 BBS Bardet-Biedl syndrome 7 BBS Bardet-Biedl syndrome 9 BCHE Apnea BCKDHA Maple syrup urine disease type Ia BCKDHB Maple syrup urine disease type Ib BCKDK Branched-chain ketoacid dehydrogenase kinase deficiency BCL Lymphoma MALT somatic BCL Leukemia/lymphoma B-cell BCL7A B-cell non-hodgkin lymphoma BCMO Hypercarotenemia and vitamin A deficiency autosomal dominant BCOR Microphthalmia syndromic 2 BCR Leukemia acute lymphocytic BCS1L Bjornstad syndrome BDNF Central hypoventilation syndrome congenital BEST Best macular dystrophy BFSP Cataract 33 BFSP Cataract 12 multiple types BICD Spinal muscular atrophy lower extremity-predominant 2 AD BIN Myopathy centronuclear autosomal recessive BLK Maturity-onset diabetes of the young type 11 BLM Bloom syndrome BLNK Agammaglobulinemia 4 BLOC1S Hermansky-Pudlak syndrome 8 BLOC1S Hermansky-pudlak syndrome 9 BLVRA Hyperbiliverdinemia BMP Osteogenesis imperfecta type XIII BMP Ovarian dysgenesis 2 BMP Brachydactyly type A2 BMP Microphthalmia syndromic 6 BMPER Diaphanospondylodysostosis BMPR1A Juvenile polyposis syndrome infantile form BMPR1B Brachydactyly type A2 BMPR Pulmonary hypertension familial primary 1 with or without HHT

10 BOLA Multiple mitochondrial dysfunctions syndrome 2 BPGM Erythrocytosis due to bisphosphoglycerate mutase deficiency BRAF Adenocarcinoma of lung somatic BRAT Rigidity and multifocal seizure syndrome lethal neonatal BRCA Fanconi anemia complementation group D1 BRIP Breast cancer early-onset BRWD Mental retardation X-linked 93 BSCL Lipodystrophy congenital generalized type 2 BSND Bartter syndrome type 4a BTD Biotinidase deficiency BTK Agammaglobulinemia and isolated hormone deficiency BUB Colorectal cancer with chromosomal instability BUB1B Colorectal cancer somatic C10orf Albinism oculocutaneous type V C10orf Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) C12orf Temtamy syndrome C12orf Combined oxidative phosphorylation deficiency 7 C19orf Neurodegeneration with brain iron accumulation 4 C1GALT1C Tn polyagglutination syndrome somatic C1QA C1q deficiency C1QB C1q deficiency C1QC C1q deficiency C1QTNF Retinal degeneration late-onset autosomal dominant C1S C1s deficiency C C2 deficiency C2orf Retinitis pigmentosa 54 C C3 deficiency C4B C4B deficiency C4orf Amelogenesis imperfecta hypomaturation type IIA4 C C5 deficiency C5orf Joubert syndrome 17 C C6 deficiency C C7 deficiency

11 C8A C8 deficiency type I C8B C8 deficiency type II C8orf Cone-rod dystrophy 16 C C9 deficiency with dermatomyositis C9orf Amyotrophic lateral sclerosis and/or frontotemporal dementia CA Hyperchlorhidrosis isolated CA Osteopetrosis autosomal recessive 3 with renal tubular acidosis CA Retinitis pigmentosa 17 CA Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 CABP Deafness autosomal recessive 93 CABP Night blindness congenital stationary (incomplete) 2B autosomal recessive CACNA1A Episodic ataxia type 2 CACNA1C Brugada syndrome 3 CACNA1C Brugada syndrome 3 CACNA1C Brugada syndrome 3 CACNA1D Sinoatrial node dysfunction and deafness CACNA1F Aland Island eye disease CACNA1S Hypokalemic periodic paralysis type 1 CACNA2D Retinal cone dystrophy 4 CACNB Brugada syndrome 4 CACNB Episodic ataxia type 5 CACNG Mental retardation autosomal dominant 10 CALM Ventricular tachycardia catecholaminergic polymorphic 4 CALR Cardiomyopathy familial hypertrophic 19 CAMTA Cerebellar ataxia nonprogressive with mental retardation CANT Desbuquois dysplasia CAPN Muscular dystrophy limb-girdle type 2A CARD Persistent polyclonal B-cell lymphocytosis (3) Immunodeficiency primary autosomal recessive CARD related CARD Pityriasis rubra pilaris CARD Candidiasis familial 2 autosomal recessive CASC Microcephaly 4 primary autosomal recessive CASK FG syndrome 4

12 CASP Autoimmune lymphoproliferative syndrome type II CASP Hepatocellular carcinoma somatic CASQ Ventricular tachycardia catecholaminergic polymorphic 2 CASR Hyperparathyroidism neonatal CAT Acatalasemia CATSPER Spermatogenic failure 7 CAV Lipodystrophy congenital generalized type 3 CAV Cardiomyopathy familial hypertrophic CBL Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia CBS Homocystinuria B6-responsive and nonresponsive types CBX XY sex reversal 5 CC2D1A Mental retardation autosomal recessive 3 CC2D2A COACH syndrome CCBE Hennekam lymphangiectasia-lymphedema syndrome CCDC Ciliary dyskinesia primary 17 CCDC Heterotaxy visceral 6 autosomal recessive CCDC Ciliary dyskinesia primary 20 CCDC Ciliary dyskinesia primary 14 CCDC Ciliary dyskinesia primary 15 CCDC Deafness autosomal dominant 44 CCDC Myopathy centronuclear 4 CCDC Three M syndrome 3 CCDC88C Hydrocephalus nonsyndromic autosomal recessive CCT Neuropathy hereditary sensory with spastic paraplegia CD Nephropathy with pretibial epidermolysis bullosa and deafness CD Immunodeficiency common variable 3 CD Immunodeficiency due to defect in CD3-zeta CD Lymphoproliferative syndrome 2 CD2AP Glomerulosclerosis focal segmental 3 CD Methylmalonic aciduria due to transcobalamin receptor defect CD Platelet glycoprotein IV deficiency CD3D Severe combined immunodeficiency T cell-negative B-cell/natural killer-cell positive CD3E

13 CD3G CD OKT4 epitope deficiency CD Immunodeficiency with hyper-igm type 3 CD40LG Immunodeficiency, X-linked, with hyper-igm CD CD59 deficiency CD79A Agammaglobulinemia 3 CD79B Agammaglobulinemia 6 CD Immunodeficiency common variable 6 CD8A CD8 deficiency familial CD C syndrome CDAN Anemia congenital dyserythropoietic type I CDC Meier-Gorlin syndrome 5 CDC Hyperparathyroidism familial primary CDH Endometrial carcinoma somatic CDH Mental retardation autosomal dominant 3 CDH Deafness autosomal recessive 12 CDH Ectodermal dysplasia ectrodactyly and macular dystrophy CDHR Cone-rod dystrophy 15 CDK5RAP Microcephaly 3 primary autosomal recessive CDKL Angelman syndrome-like CDKN1B Multiple endocrine neoplasia type IV CDKN1C Beckwith-Wiedemann syndrome CDKN2A Melanoma and neural system tumor syndrome CDON Holoprosencephaly 11 CDSN Hypotrichosis simplex of scalp 1 CDT Meier-Gorlin syndrome 4 CEACAM Deafness autosomal dominant 4B CEBPA Leukemia acute myeloid CEBPE Specific granule deficiency CEL Maturity-onset diabetes of the young type VIII CENPJ Microcephaly 6 primary autosomal recessive CEP Microcephaly 8 primary autosomal recessive CEP Microcephaly 9 primary autosomal recessive

14 CEP Nephronophthisis 15 CEP Bardet-Biedl syndrome 14 CEP Joubert syndrome 15 CEP Mosaic variegated aneuploidy syndrome 2 CEP Seckel syndrome 6 CERKL Retinitis pigmentosa 26 CERS Ichthyosis congenital autosomal recessive 9 CES CETP Hyperalphalipoproteinemia CFD Complement factor D deficiency CFH Complement factor H deficiency CFHR Nephropathy due to CFHR5 deficiency CFI Complement factor I deficiency CFL Nemaline myopathy 7 autosomal recessive CFP Properdin deficiency, X-linked CFTR Congenital bilateral absence of vas deferens CHAT Myasthenic syndrome congenital associated with episodic apnea CHD CHARGE syndrome CHEK Li-Fraumeni syndrome CHKB Muscular dystrophy congenital megaconial type CHM Choroideremia CHMP1A Pontocerebellar hypoplasia type 8 CHMP2B Amyotrophic lateral sclerosis 17 CHMP4B Cataract 31 multiple types CHN Duane retraction syndrome 2 CHRDL Megalocornea 1 CHRM Eagle-Barrett syndrome CHRNA Multiple pterygium syndrome lethal type CHRNA Epilepsy nocturnal frontal lobe type 4 CHRNA Epilepsy nocturnal frontal lobe 1 CHRNB Myasthenic syndrome congenital associated with acetylcholine receptor deficiency CHRNB Epilepsy nocturnal frontal lobe 3 CHRND Multiple pterygium syndrome lethal type

15 CHRNE Myasthenic syndrome congenital associated with acetylcholine receptor deficiency CHRNG Escobar syndrome CHST Ehlers-Danlos syndrome musculocontractural type CHST Spondyloepiphyseal dysplasia with congenital joint dislocations CHST Macular corneal dystrophy CHSY Temtamy preaxial brachydactyly syndrome CHUK Cocoon syndrome CIB Deafness autosomal recessive 48 CIITA Bare lymphocyte syndrome, type II, complementation group A CIITA {Rheumatoid arthritis, susceptibility to} CIRH1A Cirrhosis North American Indian childhood type CISD Wolfram syndrome 2 CITED Atrial septal defect 8 CLCF Cold-induced sweating syndrome 1 CLCN Myotonia congenita dominant CLCN Dent disease CLCN Osteopetrosis autosomal dominant 2 CLCNKA Bartter syndrome type 4b digenic CLCNKB Bartter syndrome type 3 CLDN Ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis CLDN Deafness autosomal recessive 29 CLDN Hypomagnesemia 3 renal CLDN Hypomagnesemia 5 renal with ocular involvement CLEC7A Candidiasis familial 4 autosomal recessive CLIC Mental retardation X-linked syndromic 32 CLMP Congenital short bowel syndrome CLN Ceroid lipofuscinosis neuronal 3 CLN Ceroid lipofuscinosis neuronal 5 CLN Ceroid lipofuscinosis neuronal 6 CLN Ceroid lipofuscinosis neuronal 8 CLPP Perrault syndrome 3 CLRN Retinitis pigmentosa 61 CNGA Retinitis pigmentosa 49

16 CNGA Achromatopsia-2 CNGB Retinitis pigmentosa 45 CNGB Achromatopsia-3 CNNM Hypomagnesemia 6 renal CNNM Jalili syndrome CNTN Myopathy congenital Compton-North CNTNAP Cortical dysplasia-focal epilepsy syndrome COA Mitochondrial complex IV deficiency COCH Deafness autosomal dominant 9 COG Congenital disorder of glycosylation type IIg COG Congenital disorder of glycosylation type IIj COG Congenital disorder of glycosylation type IIi COG Shaheen syndrome COG Congenital disorder of glycosylation type IIe COG Congenital disorder of glycosylation type IIh COL10A Metaphyseal chondrodysplasia Schmid type COL11A Fibrochondrogenesis COL11A Deafness autosomal dominant 13 COL17A Epidermolysis bullosa junctional non-herlitz type COL18A Knobloch syndrome type 1 COL1A Caffey disease COL1A Ehlers-Danlos syndrome cardiac valvular form COL2A Achondrogenesis type II or hypochondrogenesis COL3A Ehlers-Danlos syndrome type III COL4A Angiopathy hereditary with nephropathy aneurysms and muscle COL4A Porencephaly 2 COL4A Alport syndrome autosomal dominant COL4A Alport syndrome autosomal recessive COL4A Alport syndrome COL5A Ehlers-Danlos syndrome type I COL5A Ehlers-Danlos syndrome type I COL6A Bethlem myopathy COL6A Bethlem myopathy

17 COL6A Bethlem myopathy COL7A EBD inversa COL8A Corneal dystrophy polymorphous posterior 2 COL9A Epiphyseal dysplasia multiple 6 COL9A Epiphyseal dysplasia multiple 2 COL9A Epiphyseal dysplasia multiple 3 COLEC MC syndrome 2 COLQ Endplate acetylcholinesterase deficiency COMP Epiphyseal dysplasia multiple 1 COQ Coenzyme Q10 deficiency primary 1 COQ Coenzyme Q10 deficiency primary 6 COQ Coenzyme Q10 deficiency primary 5 CORIN Preeclampsia/eclampsia 5 COX Encephalopathy progressive mitochondrial COX Mitochondrial complex IV deficiency COX Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 2 COX4I Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis COX6B Cytochrome c oxidase deficiency COX7B Aplasia cutis congenita reticulolinear with mmicrocephaly facial dysmorphism and other congenital anomalies CP Cerebellar ataxia CPA Epilepsy familial temporal lobe 5 CPN Carboxypeptidase N deficiency CPOX Coproporphyria CPS Carbamoylphosphate synthetase I deficiency CPT1A CPT deficiency hepatic type IA CPT CPT deficiency hepatic type II CR Immunodeficiency common variable 7 CRADD Mental retardation autosomal recessive 34 CRB Leber congenital amaurosis 8 CRBN Mental retardation autosomal recessive 2 CREB Histiocytoma angiomatoid fibrous somatic CREBBP Rubinstein-Taybi syndrome CRELD Atrioventricular septal defect partial with heterotaxy syndrome

18 CRLF Cold-induced sweating syndrome CRTAP Osteogenesis imperfecta type VII CRTC Mucoepidermoid salivary gland carcinoma CRX Cone-rod retinal dystrophy-2 CRYAA Cataract 9 multiple types CRYAB Cardiomyopathy dilated 1II CRYBA Cataract 10 multiple types CRYBA Cataract 23 CRYBB Cataract 17 multiple types CRYBB Cataract 3 multiple types CRYBB Cataract 22 autosomal recessive CRYGB Cataract 39 multiple types CRYGC Cataract 2 multiple types CRYGD Cataract 4 multiple types CRYGS Cataract 20 multiple types CRYM Deafness CSF1R Leukoencephalopathy diffuse hereditary with spheroids CSF2RB Surfactant metabolism dysfunction pulmonary 5 CSF3R Neutrophilia hereditary CSNK1D Advanced sleep-phase syndrome familial 2 CSRP Cardiomyopathy dilated 1M CST Cerebral amyloid angiopathy CSTA Exfoliative ichthyosis autosomal recessive ichthyosis bullosa of Siemens-like CSTB Epilepsy progressive myoclonic 1A (Unverricht and Lundborg) CTC Cerebroretinal microangiopathy with calcifications and cysts CTDP Congenital cataracts facial dysmorphism and neuropathy CTH Cystathioninuria CTHRC Barrett esophagus/esophageal adenocarcinoma CTNNB Colorectal cancer somatic CTNS Cystinosis atypical nephropathic CTSA Galactosialidosis CTSC Haim-Munk syndrome CTSD Ceroid lipofuscinosis neuronal 10

19 CTSK Pycnodysostosis CUBN Megaloblastic anemia-1 Finnish type CUL Pseudohypoaldosteronism type IIE CUL4B Mental retardation X-linked syndromic 15 (Cabezas type) CUL M syndrome 1 CXCR Myelokathexis CYB5A Methemoglobinemia type IV CYB5R Methemoglobinemia type I CYBA Chronic granulomatous disease autosomal due to deficiency of CYBA CYBB Atypical mycobacteriosis familial X-linked 2 CYCS Thrombocytopenia 4 CYLD Brooke-Spiegler syndrome CYP11A CYP11B Adrenal hyperplasia congenital due to 11-beta-hydroxylase deficiency CYP11B CYP17A lyase deficiency isolated CYP19A Aromatase deficiency CYP1B Glaucoma 3A primary open angle congenital juvenile or adult onset CYP21A Adrenal hyperplasia congenital due to 21-hydroxylase deficiency CYP24A Hypercalcemia infantile CYP26B Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies CYP26C Focal facial dermal dysplasia 4 CYP27A Cerebrotendinous xanthomatosis CYP27B Vitamin D-dependent rickets type I CYP2A Coumarin resistance CYP2B Efavirenz poor metabolism of CYP2C Rhabdomyolysis CYP2C CYP2R Rickets due to defect in vitamin D 25-hydroxylation CYP2U Spastic paraplegia 56 autosomal recessive CYP4F Ichthyosis congenital autosomal recessive 5 CYP4V Bietti crystalline corneoretinal dystrophy CYP7B Bile acid synthesis defect congenital 3

20 D2HGDH D-2-hydroxyglutaric aciduria DAG Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 9 DARS Hypomyelination with brainstem and spinal cord involvement and leg spasticity DARS Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation DBH Dopamine beta-hydroxylase deficiency DBT Maple syrup urine disease type II DCAF Woodhouse-Sakati syndrome DCC Colorectal cancer somatic DCLRE1C Omenn syndrome DCN Corneal dystrophy congenital stromal DCTN Neuropathy distal hereditary motor type VIIB DCX Lissencephaly X-linked DDB Xeroderma pigmentosum group E DDB-negative subtype DDC Aromatic L-amino acid decarboxylase deficiency DDHD Spastic paraplegia 28 autosomal recessive DDHD Spastic paraplegia 54 autosomal recessive DDOST Congenital disorder of glycosylation type Ir DDR Spondylometaepiphyseal dysplasia short limb-hand type DDX Warsaw breakage syndrome DEPDC Epilepsy familial focal with variable foci DES Cardiomyopathy dilated 1I DFNA Deafness autosomal dominant 5 DFNB Usher syndrome, type 2D DGKE Nephrotic syndrome type 7 DGUOK Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DHCR Desmosterolosis DHCR Smith-Lemli-Opitz syndrome DHDDS Retinitis pigmentosa 59 DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency DHH XY partial gonadal dysgenesis with minifascicular neuropathy DHODH Miller syndrome DHTKD aminoadipic 2-oxoadipic aciduria DIAPH Deafness autosomal dominant 1

21 DIAPH Premature ovarian failure DIAPH Auditory neuropathy autosomal dominant 1 DICER Goiter multinodular 1 with or without Sertoli-Leydig cell tumors DIP2B Mental retardation FRA12A type DIS3L Perlman syndrome DKC Dyskeratosis congenita X-linked DLAT Pyruvate dehydrogenase E2 deficiency DLC Colorectal cancer DLD Dihydrolipoamide dehydrogenase deficiency DLG Mental retardation X-linked 90 DLL Spondylocostal dysostosis autosomal recessive 1 DLX Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism DLX Split-hand/foot malformation 1 with sensorineural hearing loss DMD Becker muscular dystrophy DMGDH Dimethylglycine dehydrogenase deficiency DMP Hypophosphatemic rickets AR DMPK Myotonic dystrophy 1 DNA Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant 6 DNAAF Ciliary dyskinesia primary 2 DNAH Ciliary dyskinesia primary 7 with or without situs inversus DNAH Ciliary dyskinesia primary 3 with or without situs inversus DNAI Ciliary dyskinesia primary 1 with or without situs inversus DNAI Ciliary dyskinesia primary 9 with or without situs inversus DNAJB Spinal muscular atrophy distal autosomal recessive 5 DNAJB Muscular dystrophy limb-girdle type 1E DNAJC methylglutaconic aciduria type V DNAJC Ceroid lipofuscinosis neuronal 4 Parry type DNAL Ciliary dyskinesia primary 16 DNASE1L Systemic lupus erythematosus 16 DNM1L Encephalopahty lethal due to defective mitochondrial peroxisomal fission DNM Charcot-Marie-Tooth disease axonal type 2M DNMT Cerebellar ataxia deafness and narcolepsy autosomal dominant DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1

22 DOCK Adams-Oliver syndrome 2 DOCK Hyper-IgE recurrent infection syndrome autosomal recessive DOK Fetal akinesia deformation sequence DOLK DPAGT Congenital disorder of glycosylation type Ij DPM Congenital disorder of glycosylation type Ie DPM Congenital disorder of glycosylation type Iu DPM Congenital disorder of glycosylation type Io DPP Ventricular fibrillation paroxysmal familial 2 DPY19L Spermatogenic failure 9 DPYD fluorouracil toxicity DPYS Dihydropyrimidinuria DRC Ciliary dyskinesia primary 21 DRD Dystonia myoclonic DRD Autonomic nervous system dysfunction DRD Dystonia DSC Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair DSC Hypotrichosis and recurrent skin vesicles DSG Keratosis palmoplantaris striata I DSG Arrhythmogenic right ventricular dysplasia 10 DSG Hypotrichosis localized autosomal recessive DSP Arrhythmogenic right ventricular dysplasia 8 DSPP Deafness autosomal dominant 36 with dentinogenesis DST Neuropathy hereditary sensory and autonomic type VI DTNA Left ventricular noncompaction 1 with or without congenital heart defects DTNBP Hermansky-Pudlak syndrome 7 DUOX Thryoid dyshormonogenesis 6 DUOXA Thyroid dyshormonogenesis 5 DUSP Hypogonadotropic hypogonadism 19 with or without anosmia DYM Dyggve-Melchior-Clausen disease DYNC1H Charcot-Marie-Tooth disease axonal type 20 DYNC2H Asphyxiating thoracic dystrophy 3 DYRK1A Mental retardation autosomal dominant 7

23 DYSF Miyoshi muscular dystrophy 1 EARS Combined oxidative phosphorylation deficiency 12 EBP Chondrodysplasia punctata X-linked dominant ECE Hirschsprung disease cardiac defects and autonomic dysfunction ECEL Arthrogryposis distal type 5D ECM Urbach-Wiethe disease EDAR Ectodermal dysplasia 10A hypohidrotic/hair/nail type autosomal dominant EDARADD Ectodermal dysplasia 11A hypohidrotic/hair/tooth type EDN Central hypoventilation syndrome congenital EDNRA Migraine resistance to EDNRB ABCD syndrome EFEMP Doyne honeycomb degeneration of retina EFEMP Cutis laxa autosomal recessive type IB EFNB Craniofrontonasal dysplasia EFTUD Mandibulofacial dysostosis Guion-Almeida type EGF Hypomagnesemia 4 renal EGFR Adenocarcinoma of lung response to tyrosine kinase inhibitor in EGLN Erythrocytosis familial 3 EGR Charcot-Marie-Tooth disease type 1D EHMT Kleefstra syndrome EIF2AK Wolcott-Rallison syndrome EIF2B Leukoencephalopathy with vanishing white matter EIF2B Leukoencephalopathy with vanishing white matter EIF2B Leukoencephalopathy with vanishing white matter EIF2B Leukoencephaly with vanishing white matter EIF2B Leukoencephalopathy with vanishing white matter EIF4G Parkinson disease 18 ELANE Neutropenia cyclic ELN Cutis laxa AD ELOVL Ichthyosis spastic quadriplegia and mental retardation EMD Emery-Dreifuss muscular dystrophy 1 X-linked EMG Bowen-Conradi syndrome EMX Schizencephaly

24 ENAM Amelogenesis imperfecta type IB ENG Telangiectasia hereditary hemorrhagic type 1 ENO Glycogen storage disease XIII ENPP Arterial calcification generalized of infancy 1 EOGT Adams-Oliver syndrome 4 EP Colorectal cancer somatic EPAS Erythrocytosis familial 4 EPB Elliptocytosis-1 EPB41L Mental retardation autosomal dominant 11 EPB Spherocytosis hereditary type 5 EPCAM Colorectal cancer hereditary nonpolyposis type 8 EPG Vici syndrome EPHA Cataract 6 multiple types EPHB Prostate cancer progression and metastasis of EPHX Hypercholanemia familial EPM2A Epilepsy progressive myoclonic 2A (Lafora) EPX Eosinophil peroxidase deficiency ERBB Adenocarcinoma of lung somatic ERBB Lethal congenital contractural syndrome 2 ERCC Cerebrooculofacioskeletal syndrome 4 ERCC Cerebrooculofacioskeletal syndrome 2 ERCC Trichothiodystrophy ERCC Fanconi anemia complementation group Q ERCC Xeroderma pigmentosum group G ERCC Cerebrooculofacioskeletal syndrome 1 ERCC Cockayne syndrome type A ERF Craniosynostosis 4 ERLIN Spastic paraplegia 18 autosomal recessive ESCO Roberts syndrome ESPN Deafness autosomal recessive 36 ESR ESRRB Deafness autosomal recessive 35 ETFA Glutaric acidemia IIA

25 ETFB Glutaric acidemia IIB ETFDH Glutaric acidemia IIC ETHE Ethylmalonic encephalopathy ETV Leukemia acute myeloid somatic EVC Ellis-van Creveld syndrome EWSR Ewing sarcoma EXOSC Pontocerebellar hypoplasia type 1B EXPH Epidermolysis bullosa nonspecific autosomal recessive EXT Chondrosarcoma EXT Exostoses multiple type 2 EYA Anterior segment anomalies with or without cataract EYA Cardiomyopathy dilated 1J EYS Retinitis pigmentosa 25 EZH Weaver syndrome F Factor X deficiency F Factor XI deficiency autosomal dominant F Angioedema hereditary type III F13A Factor XIIIA deficiency F13B Factor XIIIB deficiency F Dysprothrombinemia F Factor V deficiency F Factor VII deficiency F Hemophilia A F Hemophilia B FA2H Spastic paraplegia 35 autosomal recessive FADD Infections recurrent with encephalopathy hepatic dysfunction and cardiovasuclar malformations FAH Tyrosinemia type I FAM111A Gracile bone dysplasia FAM126A Leukodystrophy hypomyelinating 5 FAM134B Neuropathy hereditary sensory and autonomic type IIB FAM161A Retinitis pigmentosa 28 FAM20A Amelogenesis imperfecta and gingival fibromatosis syndrome FAM20C Raine syndrome

26 FAM58A STAR syndrome FAM83H Amelogenesis imperfecta type 3 FAN Interstitial nephritis karyomegalic FANCA Fanconi anemia complementation group A FANCB FANCC Fanconi anemia complementation group C FANCD Fanconi anemia complementation group D2 FANCE Fanconi anemia complementation group E FANCF Fanconi anemia complementation group F FANCG FANCI Fanconi anemia complementation group I FANCL FANCM Fanconi anemia complementation group M FARS Combined oxidative phosphorylation deficiency 14 FAS Autoimmune lymphoproliferative syndrome, type IA FASLG {Lung cancer, susceptibility to} FASLG Autoimmune lymphoproliferative syndrome, type IB FASTKD Mitochondrial complex IV deficiency FBLN Synpolydactyly 3/34 associated with metacarpal and metatarsal synostoses FBLN Cutis laxa autosomal dominant 2 FBN Acromicric dysplasia FBN Contractural arachnodactyly congenital FBP Fructose-16-bidphosphatase deficiency FBXO Parkinson disease 15 autosomal recessive FCGR3B Neutropenia FCN Immunodeficiency due to ficolin 3 deficiency FECH Protoporphyria erythropoietic autosomal recessive FERMT Leukocyte adhesion deficiency, type III FGA Afibrinogenemia congenital FGB Afibrinogenemia congenital FGD Aarskog-Scott syndrome FGD Charcot-Marie-Tooth disease type 4H FGF Aplasia of lacrimal and salivary glands

27 FGF Spinocerebellar ataxia 27 FGF Hypogonadotropic hypogonadism 20 with or without anosmia FGF Hypophosphatemic rickets autosomal dominant FGF Deafness congenital with inner ear agenesis microtia and microdontia FGF Hypogonadotropic hypogonadism 6 with or without anosmia FGF Multiple synostoses syndrome 3 FGFR Hypogonadotropic hypogonadism 2 with or without anosmia FGFR Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis FGFR Achondroplasia FGG Dysfibrinogenemia FH Fumarase deficiency FHL Emery-Dreifuss muscular dystrophy 6 X-linked FIG Amyotrophic lateral sclerosis 11 FIGLA Premature ovarian failure 6 FKBP Osteogenesis imperfecta type XI FKBP Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss FKRP Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 5 FKTN Cardiomyopathy dilated 1X FLCN Birt-Hogg-Dube syndrome FLG Ichthyosis vulgaris FLNA Cardiac valvular dysplasia X-linked FLNB Atelosteogenesis type I FLNC Myopathy distal 4 FLRT Hypogonadotropic hypogonadism 21 with anosmia FLT Leukemia FLT Hemangioma capillary infantile somatic FLVCR Ataxia posterior column with retinitis pigmentosa FLVCR Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome FMO Trimethylaminuria FMR Fragile X syndrome FN Glomerulopathy with fibronectin deposits 2 FOLR Neurodegeneration due to cerebral folate transport deficiency FOXC Axenfeld-Rieger syndrome type 3

28 FOXC Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus FOXE Bamforth-Lazarus syndrome FOXE Anterior segment mesenchymal dysgenesis FOXF Alveolar capillary dysplasia with misalignment of pulmonary veins FOXG Rett syndrome congenital variant FOXI Enlarged vestibular aqueduct FOXL Blepharophimosis epicanthus inversus and ptosis type 1 FOXN T-cell immunodeficiency congenital alopecia and nail dystrophy FOXP Mental retardation with language impairment and autistic features FOXP Speech-language disorder-1 FOXP Immunodysregulation polyendocrinopathy and enteropathy X-linked FOXRED Leigh syndrome due to mitochondrial complex I deficiency FRAS Fraser syndrome FREM Bifid nose with or without anorectal and renal anomalies FREM Fraser syndrome FRMD Nystagmus 1 congenital X-linked FSCN Retinitis pigmentosa 30 FSHB Follicle-stimulating hormone deficiency isolated FSHR Ovarian dysgenesis 1 FTCD Glutamate formiminotransferase deficiency FTH Iron overload FTL Hyperferritinemia-cataract syndrome FTO Growth retardation developmental delay coarse facies and early death FTSJ Mental retardation X-linked 9 FUCA Fucosidosis FUS Amyotrophic lateral sclerosis 6 autosomal recessive with or without frontotemporal dementia FUT Fucosyltransferase 6 deficiency FUZ Neural tube defects FXN Friedreich ataxia with retained reflexes FXYD Hypomagnesemia-2 renal FYCO Cataract 18 autosomal recessive FZD Exudative vitreoretinopathy FZD Nail disorder nonsyndromic congenital 10 (claw-shaped nails)

29 G6PC Glycogen storage disease Ia G6PC Dursun syndrome G6PD Favism GAA Glycogen storage disease II GABRB GABRG Epilepsy generalized with febrile seizures plus type 3 GAD Cerebral palsy spastic quadriplegic 1 GALC Krabbe disease GALE Galactose epimerase deficiency GALK Galactokinase deficiency with cataracts GALNS Mucopolysaccharidosis IVA GALNT Tumoral calcinosis hyperphosphatemic familial GALT Galactosemia GAMT Cerebral creatine deficiency syndrome 2 GAN Giant axonal neuropathy-1 GARS Charcot-Marie-Tooth disease type 2D GATA Anemia X-linked with/without neutropenia and/or platelet abnormalities GATA Dendritic cell monocyte B lymphocyte and natural killer lymphocyte deficiency GATA Hypoparathyroidism sensorineural deafness and renal dysplasia GATA Atrial septal defect 2 GATA Atrial septal defect 9 GATAD Cardiomyopathy dilated 2B GATAD2B Mental retardation autosomal dominant 18 GATM Cerebral creatine deficiency syndrome 3 GBA Gaucher disease perinatal lethal GBA Spastic paraplegia 46 autosomal recessive GBE Glycogen storage disease IV GCDH Glutaricaciduria type I GCH Dystonia DOPA-responsive with or without hyperphenylalaninemia GCK Diabetes mellitus gestational GCLC Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency GCNT Adult i phenotype without cataract GCSH Glycine encephalopathy