Whole exome sequencing Gene package Multiple congenital anomalie version 3,

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1 Whole Exome Sequencing Gene package Multiple congenital anomalie, version 3, Technical information After DNA was enriched using Agilent Sureselect Clinical Research Exome (CRE) Capture, samples were run on the Illumina Hiseq platform. The aim is to obtain 50 million total reads per exome with a mapped fraction >0.98. The average coverage of the exome is ~50x. Data are demultiplexed by Illumina software bcl2fastq. Reads are mapped to the genome using BWA (reference: bwa.sourceforge.net/). Variant detection is performed by Genome Analysis Toolkit (reference: Analysis is performed in Cartagenia using The Variant Calling File (VCF) followed by filtering. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved median depth A4GALT [Blood group, P1Pk system, p phenotype], [Blood group, P1Pk system, P phenotype], NOR polyagglutination syndrome, AAAS Achalasia addisonianism alacrimia syndrome, AAGAB Keratoderma, palmoplantar, punctate type IA, AARS Charcot Marie Tooth disease, axonal, type 2N, Epileptic encephalopathy, early infantile, 29, AARS2 Combined oxidative phosphorylation deficiency 8, Leukoencephalopathy, progressive, with ovarian failure, AASS Hyperlysinemia, Saccharopinuria, ABAT GABA transaminase deficiency, ABCA1 Tangier disease, HDL deficiency, type 2, {Coronary artery disease in familial hypercholesterolemia, protection against}, ABCA12 Ichthyosis, congenital, autosomal recessive 4A, Ichthyosis, autosomal recessive 4B (harlequin), ABCA3 Surfactant metabolism dysfunction, pulmonary, 3,

2 median depth ABCA4 Stargardt disease 1, Retinitis pigmentosa 19, Cone rod dystrophy 3, {Macular degeneration, age related, 2}, Fundus flavimaculatus, Retinal dystrophy, early onset severe, ABCB11 Cholestasis, progressive familial intrahepatic 2, Cholestasis, benign recurrent intrahepatic, 2, ABCB4 Cholestasis, progressive familial intrahepatic 3, Cholestasis, intrahepatic, of pregnancy, 3, Gallbladder disease 1, ABCB6 Microphthalmia, isolated, with coloboma 7, [Blood group, Langereis system], Dyschromatosis universalis hereditaria 3, Pseudohyperkalemia, familial, 2, due to red cell leak, ABCB7 Anemia, sideroblastic, with ataxia, ABCC2 Dubin Johnson syndrome, ABCC6 Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, Arterial calcification, generalized, of infancy, 2, ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, Hypoglycemia of infancy, leucine sensitive, Diabetes mellitus, transient neonatal 2, Diabetes mellitus, noninsulin dependent, Diabetes mellitus, permanent neonatal, ABCC9 Cardiomyopathy, dilated, 1O, Atrial fibrillation, familial, 12, Hypertrichotic osteochondrodysplasia, ABCD1 Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, ABCD4 Methylmalonic aciduria and homocystinuria, cblj type, ABCG5 Sitosterolemia, ABCG8 Sitosterolemia, Gallbladder disease 4, ABHD12 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, ABHD5 Chanarin Dorfman syndrome, ABL1 Leukemia, Philadelphia chromosome positive, resistant to imatinib ACAD8 Isobutyryl CoA dehydrogenase deficiency, ACAD9 Mitochondrial complex I deficiency due to ACAD9 deficiency,

3 median depth ACADM Acyl CoA dehydrogenase, medium chain, deficiency of, ACADS Acyl CoA dehydrogenase, short chain, deficiency of, ACADSB 2 methylbutyrylglycinuria, ACADVL VLCAD deficiency, ACAN Spondyloepiphyseal dysplasia, Kimberley type, Spondyloepimetaphyseal dysplasia, aggrecan type, Osteochondritis dissecans, short stature, and early onset osteoarthritis, ACAT1 Alpha methylacetoacetic aciduria, ACE {Myocardial infarction, susceptibility to} {Alzheimer disease, susceptibility to}, {Microvascular complications of diabetes 3}, [Angiotensin I converting enzyme, benign serum increase] {SARS, progression of} Renal tubular dysgenesis, {Stroke, hemorrhagic}, ACO2 Infantile cerebellar retinal degeneration, ?Optic atrophy 9, ACOX1 Peroxisomal acyl CoA oxidase deficiency, ACP5 Spondyloenchondrodysplasia with immune dysregulation, ACSF3 Combined malonic and methylmalonic aciduria, ACSL4 Mental retardation, X linked 63, ACSL6 Myelodysplastic syndrome Myelogenous leukemia, acute ACTA1 Nemaline myopathy 3, autosomal dominant or recessive, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, actin, congenital, with cores, Myopathy, congenital, with fiber type disproportion 1, ?Myopathy, scapulohumeroperoneal, ACTA2 Aortic aneurysm, familial thoracic 6, Multisystemic smooth muscle dysfunction syndrome, Moyamoya disease 5, ACTB?Dystonia, juvenile onset, Baraitser Winter syndrome 1, ACTC1 Cardiomyopathy, dilated, 1R, Cardiomyopathy, hypertrophic, 11, Atrial septal defect 5, Left ventricular noncompaction 4, ACTG1 Deafness, autosomal dominant 20/26, Baraitser Winter syndrome 2,

4 median depth ACTN1 Bleeding disorder, platelet type, 15, ACTN4 Glomerulosclerosis, focal segmental, 1, ACVR1 Fibrodysplasia ossificans progressiva, ACVR1B Pancreatic cancer, somatic ACVR2B Heterotaxy, visceral, 4, autosomal, ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, ACY1 Aminoacylase 1 deficiency, ADA Severe combined immunodeficiency due to ADA deficiency, Adenosine deaminase deficiency, partial, ADAM10 Reticulate acropigmentation of Kitamura, {Alzheimer disease 18, susceptibility to}, ADAM17?Inflammatory skin and bowel disease, neonatal, 1, ADAM9 Cone rod dystrophy 9, ADAMTS10 Weill Marchesani syndrome 1, recessive, ADAMTS13 Thrombotic thrombocytopenic purpura, familial, ADAMTS17 Weill Marchesani like syndrome, ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, ADAMTS2 Ehlers Danlos syndrome, type VIIC, ADAMTSL2 Geleophysic dysplasia 1, ADAMTSL4 Ectopia lentis, isolated, autosomal recessive, Ectopia lentis et pupillae, ADAR Dyschromatosis symmetrica hereditaria, Aicardi Goutieres syndrome 6, ADAT3 Mental retardation, autosomal recessive 36, ADCY5 Dyskinesia, familial, with facial myokymia, ADGRG1 Polymicrogyria, bilateral frontoparietal, Polymicrogyria, bilateral perisylvian, ADGRV1?Febrile seizures, familial, 4, Usher syndrome, type 2C, Usher syndrome, type 2C, GPR98/PDZD7 digenic, ADIPOQ Adiponectin deficiency, ADK Hypermethioninemia due to adenosine kinase deficiency, ADRB2 {Asthma, nocturnal, susceptibility to}, {Obesity, susceptibility to}, Beta 2 adrenoreceptor agonist, reduced response to ADSL Adenylosuccinase deficiency, AFF2 Mental retardation, X linked, FRAXE type, AFG3L2 Spinocerebellar ataxia 28, Ataxia, spastic, 5, autosomal recessive,

5 median depth AGA Aspartylglucosaminuria, AGBL1 Corneal dystrophy, Fuchs endothelial, 8, AGK Sengers syndrome, Cataract 38, autosomal recessive, AGL Glycogen storage disease IIIa, Glycogen storage disease IIIb, AGPAT2 Lipodystrophy, congenital generalized, type 1, AGPS Rhizomelic chondrodysplasia punctata, type 3, AGRN Myasthenic syndrome, congenital, 8, with pre and postsynaptic defects, AGT {Hypertension, essential, susceptibility to}, {Preeclampsia, susceptibility to} Renal tubular dysgenesis, AGTR1 {Hypertension, essential}, Renal tubular dysgenesis, AGXT Hyperoxaluria, primary, type 1, AHCY Hypermethioninemia with deficiency of S adenosylhomocysteine hydrolase, AHI1 Joubert syndrome 3, AICDA Immunodeficiency with hyper IgM, type 2, AIFM1 Combined oxidative phosphorylation deficiency 6, Cowchock syndrome, Deafness, X linked 5, AIMP1 Leukodystrophy, hypomyelinating, 3, AIP Pituitary adenoma, growth hormone secreting, Pituitary adenoma, prolactin secreting, Pituitary adenoma, ACTH secreting, AIPL1 Leber congenital amaurosis 4, Retinitis pigmentosa, juvenile, Cone rod dystrophy, AIRE Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, AK1 Hemolytic anemia due to adenylate kinase deficiency, AK2 Reticular dysgenesis, AKAP9?Long QT syndrome 11, AKR1C2 Obesity, hyperphagia, and developmental delay XY sex reversal 8, AKR1D1 Bile acid synthesis defect, congenital, 2,

6 median depth AKT1 Breast cancer, somatic, Colorectal cancer, somatic, Ovarian cancer, somatic, {Schizophrenia, susceptibility to}, Proteus syndrome, somatic, Cowden syndrome 6, AKT2 Diabetes mellitus, type II, Hypoinsulinemic hypoglycemia with hemihypertrophy, AKT3 Megalencephaly polymicrogyria polydactyly hydrocephalus syndrome 2, ALAD Porphyria, acute hepatic, {Lead poisoning, susceptibility to}, ALAS2 Anemia, sideroblastic, X linked, Protoporphyria, erythropoietic, X linked, ALB Analbuminemia, [Dysalbuminemic hyperthyroxinemia], ALDH18A1 Cutis laxa, autosomal recessive, type IIIA, Spastic paraplegia 9A, autosomal dominant, Spastic paraplegia 9B, autosomal recessive, Cutis laxa, autosomal dominant 3, ALDH1A3 Microphthalmia, isolated 8, ALDH2 Alcohol sensitivity, acute, {Hangover, susceptibility to}, {Sublingual nitroglycerin, susceptibility to poor response to} {Esophageal cancer, alcohol related, susceptibility to} ALDH3A2 Sjogren Larsson syndrome, ALDH4A1 Hyperprolinemia, type II, ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, ALDH6A1 Methylmalonate semialdehyde dehydrogenase deficiency, ALDH7A1 Epilepsy, pyridoxine dependent, ALDOA Glycogen storage disease XII, ALDOB Fructose intolerance, ALG1 Congenital disorder of glycosylation, type Ik, ALG11 Congenital disorder of glycosylation, type Ip, ALG12 Congenital disorder of glycosylation, type Ig, ALG13 Epileptic encephalopathy, early infantile, 36, ALG2?Congenital disorder of glycosylation, type Ii, Myasthenic syndrome, congenital, 14, with tubular aggregates, ALG3 Congenital disorder of glycosylation, type Id, ALG6 Congenital disorder of glycosylation, type Ic,

7 median depth ALG8 Congenital disorder of glycosylation, type Ih, ALG9 Congenital disorder of glycosylation, type Il, ALMS1 Alstrom syndrome, ALOX12B Ichthyosis, congenital, autosomal recessive 2, ALOXE3 Ichthyosis, congenital, autosomal recessive 3, ALPL Hypophosphatasia, infantile, Hypophosphatasia, childhood, Odontohypophosphatasia, Hypophosphatasia, adult, ALS2 Amyotrophic lateral sclerosis 2, juvenile, Primary lateral sclerosis, juvenile, Spastic paralysis, infantile onset ascending, ALX1?Frontonasal dysplasia 3, ALX3 Frontonasal dysplasia 1, ALX4 Parietal foramina 2, Frontonasal dysplasia 2, {Craniosynostosis 5, susceptibility to}, AMACR Alpha methylacyl CoA racemase deficiency, Bile acid synthesis defect, congenital, 4, AMELX Amelogenesis imperfecta, type 1E, AMER1 Osteopathia striata with cranial sclerosis, AMH Persistent Mullerian duct syndrome, type I, AMHR2 Persistent Mullerian duct syndrome, type II, AMN Megaloblastic anemia 1, Norwegian type, AMPD1 Myopathy due to myoadenylate deaminase deficiency, AMT Glycine encephalopathy, ANG Amyotrophic lateral sclerosis 9, ANGPTL3 Hypobetalipoproteinemia, familial, 2, ANK1 Spherocytosis, type 1, ANK2 Long QT syndrome 4, Cardiac arrhythmia, ankyrin B related, ANKH Craniometaphyseal dysplasia, Chondrocalcinosis 2, ANKK1 Dopamine receptor D2, reduced brain density of ANKRD11 KBG syndrome, ANKRD26 Thrombocytopenia 2, ANKS6 Nephronophthisis 16, ANO10 Spinocerebellar ataxia, autosomal recessive 10, ANO3 Dystonia 24,

8 median depth ANO5 Gnathodiaphyseal dysplasia, Muscular dystrophy, limb girdle, type 2L, Miyoshi muscular dystrophy 3, ANO6 Scott syndrome, ANOS1 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), ANTXR1 {Hemangioma, capillary infantile, susceptibility to}, GAPO syndrome, ANTXR2 Hyaline fibromatosis syndrome, AP1S1 MEDNIK syndrome, AP1S2 Mental retardation, X linked syndromic 5, AP2S1 Hypocalciuric hypercalcemia, familial, type III, AP3B1 Hermansky Pudlak syndrome 2, AP4B1 Spastic paraplegia 47, autosomal recessive, AP4E1 Spastic paraplegia 51, autosomal recessive, AP4M1 Spastic paraplegia 50, autosomal recessive, AP4S1 Spastic paraplegia 52, autosomal recessive, AP5Z1 Spastic paraplegia 48, autosomal recessive, APCDD1 Hypotrichosis 1, APOA1 ApoA I and apoc III deficiency, combined Hypoalphalipoproteinemia, Corneal clouding, autosomal recessive Amyloidosis, 3 or more types, APOA2 Apolipoprotein A II deficiency {Hypercholesterolemia, familial, modifier of}, APOA5 {Hypertriglyceridemia, susceptibility to}, Hyperchylomicronemia, late onset, APOB Hypobetalipoproteinemia, Hypercholesterolemia, due to ligand defective apo B, APOC2 Hyperlipoproteinemia, type Ib, APOC3 Apolipoprotein C III deficiency, APRT Adenine phosphoribosyltransferase deficiency, APTX Ataxia, early onset, with oculomotor apraxia and hypoalbuminemia, AQP2 Diabetes insipidus, nephrogenic, AQP5 Palmoplantar keratoderma, Bothnian type, AR Androgen insensitivity, Spinal and bulbar muscular atrophy of Kennedy, Androgen insensitivity, partial, with or without breast cancer, {Prostate cancer, susceptibility to}, Hypospadias 1, X linked,

9 median depth ARFGEF2 Periventricular heterotopia with microcephaly, ARG1 Argininemia, ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, ARHGAP31 Adams Oliver syndrome 1, ARHGEF10?Slowed nerve conduction velocity, AD, ARHGEF12 No phenotype ARHGEF6 Mental retardation, X linked 46, ARHGEF9 Epileptic encephalopathy, early infantile, 8, ARID1A Mental retardation, autosomal dominant 14, ARID1B Mental retardation, autosomal dominant 12, ARL13B Joubert syndrome 8, ARL2BP Retinitis pigmentosa with or without situs inversus, ARL6 Bardet Biedl syndrome 3, {Bardet Biedl syndrome 1, modifier of}, ?Retinitis pigmentosa 55, ARMC4 Ciliary dyskinesia, primary, 23, ARNT No phenotype ARSA Metachromatic leukodystrophy, ARSB Mucopolysaccharidosis type VI (Maroteaux Lamy), ARSE Chondrodysplasia punctata, X linked recessive, ARX Epileptic encephalopathy, early infantile, 1, Lissencephaly, X linked 2, Mental retardation, X linked 29 and others, Proud syndrome, Partington syndrome, Hydranencephaly with abnormal genitalia, ASAH1 Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy, ASB10 Glaucoma 1, open angle, F, ASCC1 Barrett esophagus/esophageal adenocarcinoma, ASCL1 Central hypoventilation syndrome, congenital, Haddad syndrome, ASL Argininosuccinic aciduria, ASNA1 No phenotype ASNS Asparagine synthetase deficiency, ASPA Canavan disease, ASPM Microcephaly 5, primary, autosomal recessive, ASPSCR1 Alveolar soft part sarcoma, ASS1 Citrullinemia,

10 median depth ASXL1 Bohring Opitz syndrome, Myelodysplastic syndrome, somatic, ASXL3 Bainbridge Ropers syndrome, ATCAY Ataxia, cerebellar, Cayman type, ATIC AICA ribosiduria due to ATIC deficiency, ATL1 Spastic paraplegia 3A, autosomal dominant, Neuropathy, hereditary sensory, type ID, ATL3 Neuropathy, hereditary sensory, type IF, ATM Ataxia telangiectasia, Lymphoma, B cell non Hodgkin, somatic {Breast cancer, susceptibility to}, Lymphoma, mantle cell, somatic T cell prolymphocytic leukemia, somatic ATN1 Dentatorubro pallidoluysian atrophy, ATP13A2 Kufor Rakeb syndrome, ?Ceroid lipofuscinosis, neuronal, 12, ATP1A2 Migraine, familial hemiplegic, 2, Alternating hemiplegia of childhood, Migraine, familial basilar, ATP1A3 Dystonia 12, Alternating hemiplegia of childhood 2, CAPOS syndrome, ATP2A1 Brody myopathy, ATP2A2 Darier disease, Acrokeratosis verruciformis, ATP2C1 Hailey Hailey disease, ATP5E?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, Wrinkly skin syndrome, ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, ATP6V1B1 Renal tubular acidosis with deafness, ATP7A Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X linked 3, ATP7B Wilson disease, ATP8B1 Cholestasis, progressive familial intrahepatic 1, Cholestasis, benign recurrent intrahepatic, Cholestasis, intrahepatic, of pregnancy, 1, ATPAF2 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1,

11 median depth ATR Seckel syndrome 1, ?Cutaneous telangiectasia and cancer syndrome, familial, ATRX Alpha thalassemia/mental retardation syndrome, Alpha thalassemia myelodysplasia syndrome, somatic, Mental retardation hypotonic facies syndrome, X linked, ATXN1 Spinocerebellar ataxia 1, ATXN10 Spinocerebellar ataxia 10, ATXN2 Spinocerebellar ataxia 2, {Amyotrophic lateral sclerosis, susceptibility to, 13}, {Parkinson disease, late onset, susceptibility to}, ATXN3 Machado Joseph disease, ATXN7 Spinocerebellar ataxia 7, ATXN8OS Spinocerebellar ataxia 8, No coverage data AUH 3 methylglutaconic aciduria, type I, AURKC Spermatogenic failure 5, AVP Diabetes insipidus, neurohypophyseal, AVPR2 Diabetes insipidus, nephrogenic, Nephrogenic syndrome of inappropriate antidiuresis, AXIN1 Hepatocellular carcinoma, somatic, ?Caudal duplication anomaly, AXIN2 Oligodontia colorectal cancer syndrome, Colorectal cancer, somatic, B2M Immunodeficiency 43, ?Amyloidosis, familial visceral, B3GALNT2 Muscular dystrophy dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, B3GALT6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, Ehlers Danlos syndrome, progeroid type, 2, B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, B3GLCT Peters plus syndrome, B3GNT2 No phenotype B4GALNT1 Spastic paraplegia 26, autosomal recessive, B4GALT1 Congenital disorder of glycosylation, type IId, B4GALT7 Ehlers Danlos syndrome, progeroid type, 1, B4GAT1 Muscular dystrophy dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, B9D1?Meckel syndrome 9, B9D2 Meckel syndrome 10,

12 median depth BAAT Hypercholanemia, familial, BAG3 Myopathy, myofibrillar, 6, Cardiomyopathy, dilated, 1HH, BANF1 Nestor Guillermo progeria syndrome, BAP1 Tumor predisposition syndrome, BAX Colorectal cancer, somatic, T cell acute lymphoblastic leukemia, somatic, BBS1 Bardet Biedl syndrome 1, BBS10 Bardet Biedl syndrome 10, BBS12 Bardet Biedl syndrome 12, BBS2 Bardet Biedl syndrome 2, Retinitis pigmentosa 74, BBS4 Bardet Biedl syndrome 4, BBS5 Bardet Biedl syndrome 5, BBS7 Bardet Biedl syndrome 7, BBS9 Bardet Biedl syndrome 9, BCAP31 Deafness, dystonia, and cerebral hypomyelination, BCHE Apnea, postanesthetic BCKDHA Maple syrup urine disease, type Ia, BCKDHB Maple syrup urine disease, type Ib, BCKDK Branched chain ketoacid dehydrogenase kinase deficiency, BCL10 Lymphoma, MALT, somatic, {Lymphoma, follicular, somatic}, {Male germ cell tumor, somatic}, , {Sezary syndrome, somatic}, {Mesothelioma, somatic}, ?Immunodeficiency 37, BCL2 Leukemia/lymphoma, B cell, BCL7A B cell non Hodgkin lymphoma, high grade BCO1 Hypercarotenemia and vitamin A deficiency, autosomal dominant, BCOR Microphthalmia, syndromic 2, BCR Leukemia, chronic myeloid, somatic, Leukemia, acute lymphocytic, somatic, BCS1L Mitochondrial complex III deficiency, nuclear type 1, Leigh syndrome, Bjornstad syndrome, GRACILE syndrome,

13 BDNF {Memory impairment, susceptibility to} Central hypoventilation syndrome, congenital, {Obsessive compulsive disorder, protection against}, {Bulimia nervosa, age of onset of weight loss in}, {Anorexia nervosa, susceptibility to}, median depth BEAN1 Spinocerebellar ataxia 31, BEST1 Macular dystrophy, vitelliform, 2, Bestrophinopathy, autosomal recessive, Vitreoretinochoroidopathy, Microcornea, rod cone dystrophy, cataract, and posterior staphyloma, Retinitis pigmentosa 50, Retinitis pigmentosa, concentric, BFSP1 Cataract 33, BFSP2 Cataract 12, multiple types, BICD2 Spinal muscular atrophy, lower extremity predominant, 2, AD, BIN1 Myopathy, centronuclear, autosomal recessive, BLK Maturity onset diabetes of the young, type 11, BLM Bloom syndrome, BLNK Agammaglobulinemia 4, BLOC1S3 Hermansky Pudlak syndrome 8, BLOC1S6 Hermansky pudlak syndrome 9, BLVRA Hyperbiliverdinemia, BMP1 Osteogenesis imperfecta, type XIII, BMP15 Ovarian dysgenesis 2, Premature ovarian failure 4, BMP2 {HFE hemochromatosis, modifier of}, Brachydactyly, type A2, BMP4 Microphthalmia, syndromic 6, Orofacial cleft 11, BMPER Diaphanospondylodysostosis, BMPR1A Polyposis, juvenile intestinal, Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, infantile form, BMPR1B Brachydactyly, type A2, Acromesomelic dysplasia, Demirhan type, Brachydactyly, type A1, D, BMPR2 Pulmonary hypertension, familial primary, 1, with or without HHT, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine associated, Pulmonary venoocclusive disease 1,

14 median depth BOLA3 Multiple mitochondrial dysfunctions syndrome 2, BPGM Erythrocytosis due to bisphosphoglycerate mutase deficiency, BRAF Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic, Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome, Noonan syndrome 7, LEOPARD syndrome 3, BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal, BRIP1 Breast cancer, early onset, Fanconi anemia, complementation group J, BRWD3 Mental retardation, X linked 93, BSCL2 Lipodystrophy, congenital generalized, type 2, Silver spastic paraplegia syndrome, Neuropathy, distal hereditary motor, type VA, Encephalopathy, progressive, with or without lipodystrophy, BSND Bartter syndrome, type 4a, Sensorineural deafness with mild renal dysfunction, BTD Biotinidase deficiency, BTK Agammaglobulinemia, X linked 1, Agammaglobulinemia and isolated hormone deficiency, BUB1 Colorectal cancer with chromosomal instability, somatic BUB1B Colorectal cancer, somatic, Mosaic variegated aneuploidy syndrome 1, [Premature chromatid separation trait], C10orf11 Albinism, oculocutaneous, type VII, C10orf2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Perrault syndrome 5, C12orf57 Temtamy syndrome, C12orf65 Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55, autosomal recessive, C15orf41 Dyserythropoietic anemia, congenital, type Ib, C19orf12 Neurodegeneration with brain iron accumulation 4, ?Spastic paraplegia 43, autosomal recessive, C1GALT1C1 Tn polyagglutination syndrome, somatic, C1QA C1q deficiency,

15 median depth C1QB C1q deficiency, C1QC C1q deficiency, C1QTNF5 Retinal degeneration, late onset, autosomal dominant, C1S C1s deficiency, C2 C2 deficiency, {Macular degeneration, age related, 14, reduced risk of}, C21orf59 Ciliary dyskinesia, primary, 26, C2orf71 Retinitis pigmentosa 54, C3 C3 deficiency, {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, {Macular degeneration, age related, 9}, C4A C4a deficiency, [Blood group, Rodgers], C4B C4B deficiency, C4orf26 Amelogenesis imperfecta, type IIA4, C5 C5 deficiency, [Eculizumab, poor response to], C5orf42 Joubert syndrome 17, Orofaciodigital syndrome VI, C6 C6 deficiency, Combined C6/C7 deficiency C7 C7 deficiency, C8A C8 deficiency, type I, C8B C8 deficiency, type II, C8orf37 Retinitis pigmentosa 64, Cone rod dystrophy 16, C9 C9 deficiency, {Macular degeneration, age related, 15, susceptibility to}, C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, CA12 Hyperchlorhidrosis, isolated, CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, CA4 Retinitis pigmentosa 17, CA5A Hyperammonemia due to carbonic anhydrase VA deficiency, CA8 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, CABP2 Deafness, autosomal recessive 93, CABP4 Cone rod synaptic disorder, congenital nonprogressive,

16 median depth CACNA1A Migraine, familial hemiplegic, 1, Episodic ataxia, type 2, Spinocerebellar ataxia 6, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, CACNA1C Timothy syndrome, Brugada syndrome 3, CACNA1D Sinoatrial node dysfunction and deafness, Primary aldosteronism, seizures, and neurologic abnormalities, CACNA1F Night blindness, congenital stationary (incomplete), 2A, X linked, Cone rod dystrophy, X linked, 3, Aland Island eye disease, CACNA1S Hypokalemic periodic paralysis, type 1, {Malignant hyperthermia susceptibility 5}, {Thyrotoxic periodic paralysis, susceptibility to, 1}, CACNA2D4 Retinal cone dystrophy 4, CACNB2 Brugada syndrome 4, CACNB4 {Epilepsy, juvenile myoclonic, susceptibility to, 6}, {Epilepsy, idiopathic generalized, susceptibility to, 9}, Episodic ataxia, type 5, CACNG2 Mental retardation, autosomal dominant 10, CALCOCO1 No phenotype NA CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4, Long QT syndrome 14, CALR Myelofibrosis, somatic, Thrombocythemia, somatic, CALR3?Cardiomyopathy, hypertrophic, 19, CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, CANT1 Desbuquois dysplasia 1, CAPN3 Muscular dystrophy, limb girdle, type 2A, CAPN5 Vitreoretinopathy, neovascular inflammatory, CARD11 B cell expansion with NFKB and T cell anergy, Immunodeficiency 11, CARD14 Psoriasis 2, Pityriasis rubra pilaris, CARD9 Candidiasis, familial, 2, autosomal recessive, CASK Mental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome 4, Mental retardation, with or without nystagmus,

17 median depth CASP10 Autoimmune lymphoproliferative syndrome, type II, Lymphoma, non Hodgkin, somatic, Gastric cancer, somatic, CASP8?Autoimmune lymphoproliferative syndrome, type IIB, Hepatocellular carcinoma, somatic, {Breast cancer, protection against}, {Lung cancer, protection against}, CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, CASR Hypocalciuric hypercalcemia, type I, Hyperparathyroidism, neonatal, Hypocalcemia, autosomal dominant, Hypocalcemia, autosomal dominant, with Bartter syndrome, {Epilepsy idiopathic generalized, susceptibility to, 8}, Hypercalciuric hypercalcemia {Calcium, serum level of} CAT Acatalasemia, CATSPER1 Spermatogenic failure 7, CAV1?Lipodystrophy, congenital generalized, type 3, Pulmonary hypertension, primary, 3, ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, CAV3 Muscular dystrophy, limb girdle, type IC, Rippling muscle disease, Creatine phosphokinase, elevated serum, Myopathy, distal, Tateyama type, Cardiomyopathy, familial hypertrophic, Long QT syndrome 9, CBL Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia, CBS Homocystinuria, B6 responsive and nonresponsive types, Thrombosis, hyperhomocysteinemic, CBX2?46XY sex reversal 5, CC2D1A Mental retardation, autosomal recessive 3, CC2D2A Joubert syndrome 9, Meckel syndrome 6, COACH syndrome, CCBE1 Hennekam lymphangiectasia lymphedema syndrome 1, CCDC103 Ciliary dyskinesia, primary, 17, CCDC114 Ciliary dyskinesia, primary, 20, CCDC39 Ciliary dyskinesia, primary, 14, CCDC40 Ciliary dyskinesia, primary, 15,

18 median depth CCDC50?Deafness, autosomal dominant 44, CCDC65 Ciliary dyskinesia, primary, 27, CCDC78 Myopathy, centronuclear, 4, CCDC8 3 M syndrome 3, CCDC88C Hydrocephalus, nonsyndromic, autosomal recessive, ?Spinocerebellar ataxia 40, CCM2 Cerebral cavernous malformations 2, CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, [Blood group, Raph], CD19 Immunodeficiency, common variable, 3, CD247?Immunodeficiency 25, CD27 Lymphoproliferative syndrome 2, CD2AP Glomerulosclerosis, focal segmental, 3, CD320 Methylmalonic aciduria due to transcobalamin receptor defect, CD36 [Macrothrombocytopenia] Platelet glycoprotein IV deficiency, {Malaria, cerebral, susceptibility to}, {Malaria, cerebral, reduced risk of}, {Coronary heart disease, susceptibility to, 7}, CD3D Immunodeficiency 19, CD3E Immunodeficiency 18, Immunodeficiency 18, SCID variant, CD3G Immunodeficiency 17, CD3 gamma deficient, CD4 OKT4 epitope deficiency, CD40 Immunodeficiency with hyper IgM, type 3, CD40LG Immunodeficiency, X linked, with hyper IgM, CD59 Hemolytic anemia, CD59 mediated, with or without immune mediated polyneuropathy, CD79A Agammaglobulinemia 3, CD79B Agammaglobulinemia 6, CD81 Immunodeficiency, common variable, 6, CD8A CD8 deficiency, familial, CD96 C syndrome, CDAN1 Dyserythropoietic anemia, congenital, type Ia, CDC6 Meier Gorlin syndrome 5, CDC73 Hyperparathyroidism jaw tumor syndrome, Hyperparathyroidism, familial primary, Parathyroid adenoma with cystic changes, Parathyroid carcinoma,

19 median depth CDH1 Endometrial carcinoma, somatic, Ovarian carcinoma, somatic, {Breast cancer, lobular}, Gastric cancer, familial diffuse, with or without cleft lip and/or palate, {Prostate cancer, susceptibility to}, CDH15 Mental retardation, autosomal dominant 3, CDH23 Usher syndrome, type 1D, Deafness, autosomal recessive 12, Usher syndrome, type 1D/F digenic, CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, Ectodermal dysplasia, ectrodactyly, and macular dystrophy, CDHR1 Cone rod dystrophy 15, Retinitis pigmentosa 65, CDK5RAP2 Microcephaly 3, primary, autosomal recessive, CDKL5 Epileptic encephalopathy, early infantile, 2, CDKN1B Multiple endocrine neoplasia, type IV, CDKN1C Beckwith Wiedemann syndrome, IMAGE syndrome, CDKN2A {Melanoma, cutaneous malignant, 2}, Melanoma and neural system tumor syndrome, Pancreatic cancer/melanoma syndrome, Orolaryngeal cancer, multiple, CDON Holoprosencephaly 11, CDSN Hypotrichosis 2, Peeling skin syndrome 1, CDT1 Meier Gorlin syndrome 4, CEACAM16?Deafness, autosomal dominant 4B, CEBPA?Leukemia, acute myeloid, Leukemia, acute myeloid, somatic, CEBPE Specific granule deficiency, CECR1 Polyarteritis nodosa, childhood onset, ?Sneddon syndrome, CEL Maturity onset diabetes of the young, type VIII, CENPJ Microcephaly 6, primary, autosomal recessive, ?Seckel syndrome 4, CEP135?Microcephaly 8, primary, autosomal recessive, CEP152 Microcephaly 9, primary, autosomal recessive, Seckel syndrome 5, CEP164 Nephronophthisis 15,

20 median depth CEP19 Morbid obesity and spermatogenic failure, CEP290 Joubert syndrome 5, Senior Loken syndrome 6, Leber congenital amaurosis 10, Meckel syndrome 4, ?Bardet Biedl syndrome 14, CEP41 Joubert syndrome 15, CEP57 Mosaic variegated aneuploidy syndrome 2, CERKL Retinitis pigmentosa 26, CERS3 Ichthyosis, congenital, autosomal recessive 9, CES1 Carboxylesterase 1 deficiency CETP Hyperalphalipoproteinemia, [High density lipoprotein cholesterol level QTL 10], CFAP53 Heterotaxy, visceral, 6, autosomal recessive, CFC1 Heterotaxy, visceral, 2, autosomal, CFD Complement factor D deficiency, CFH {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, Complement factor H deficiency, {Macular degeneration, age related, 4}, Basal laminar drusen, CFHR5 Nephropathy due to CFHR5 deficiency, CFI Complement factor I deficiency, {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, {Macular degeneration, age related, 13, susceptibility to}, CFL2 Nemaline myopathy 7, autosomal recessive, CFP Properdin deficiency, X linked, CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Sweat chloride elevation without CF {Pancreatitis, idiopathic}, {Hypertrypsinemia, neonatal} {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, CHAT Myasthenic syndrome, congenital, 6, presynaptic, CHD2 Epileptic encephalopathy, childhood onset, CHD7 CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia, CHKB Muscular dystrophy, congenital, megaconial type, CHM Choroideremia, CHMP1A Pontocerebellar hypoplasia, type 8,

21 median depth CHMP2B Dementia, familial, nonspecific, Amyotrophic lateral sclerosis 17, CHMP4B Cataract 31, multiple types, CHN1 Duane retraction syndrome 2, CHRDL1 Megalocornea 1, X linked CHRM3?Prune belly syndrome, CHRNA1 Myasthenic syndrome, congenital, 1A, slow channel, Myasthenic syndrome, congenital, 1B, fast channel, Multiple pterygium syndrome, lethal type, CHRNA2 Epilepsy, nocturnal frontal lobe, type 4, CHRNA4 Epilepsy, nocturnal frontal lobe, 1, {Nicotine addiction, susceptibility to}, CHRNB1 Myasthenic syndrome, congenital, 2A, slow channel, ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, CHRNB2 Epilepsy, nocturnal frontal lobe, 3, CHRND?Myasthenic syndrome, congenital, 3A, slow channel, Myasthenic syndrome, congenital, 3B, fast channel, ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, Multiple pterygium syndrome, lethal type, CHRNE Myasthenic syndrome, congenital, 4A, slow channel, Myasthenic syndrome, congenital, 4B, fast channel, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, CHRNG Escobar syndrome, Multiple pterygium syndrome, lethal type, CHST14 Ehlers Danlos syndrome, musculocontractural type 1, CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, CHST6 Macular corneal dystrophy, CHSY1 Temtamy preaxial brachydactyly syndrome, CHUK Cocoon syndrome, CIB2 Deafness, autosomal recessive 48, Usher syndrome, type IJ, CIITA Bare lymphocyte syndrome, type II, complementation group A, {Rheumatoid arthritis, susceptibility to}, CISD2 Wolfram syndrome 2, CITED2 Ventricular septal defect 2, Atrial septal defect 8, CLCF1 Cold induced sweating syndrome 2,

22 median depth CLCN1 Myotonia congenita, recessive, Myotonia congenita, dominant, Myotonia levior, recessive CLCN2 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, {Epilepsy, juvenile absence, susceptibility to, 2}, {Epilepsy, idiopathic generalized, susceptibility to, 11}, Leukoencephalopathy with ataxia, CLCN5 Dent disease, Nephrolithiasis, type I, Hypophosphatemic rickets, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, CLCN7 Osteopetrosis, autosomal recessive 4, Osteopetrosis, autosomal dominant 2, CLCNKA Bartter syndrome, type 4b, digenic, CLCNKB Bartter syndrome, type 3, Bartter syndrome, type 4b, digenic, CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, CLDN14 Deafness, autosomal recessive 29, CLDN16 Hypomagnesemia 3, renal, CLDN19 Hypomagnesemia 5, renal, with ocular involvement, CLEC7A Candidiasis, familial, 4, autosomal recessive, {Aspergillosis, susceptibility to}, CLIC2?Mental retardation, X linked, syndromic 32, CLMP Congenital short bowel syndrome, CLN3 Ceroid lipofuscinosis, neuronal, 3, CLN5 Ceroid lipofuscinosis, neuronal, 5, CLN6 Ceroid lipofuscinosis, neuronal, 6, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, CLN8 Ceroid lipofuscinosis, neuronal, 8, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, CLPP Perrault syndrome 3, CLRN1 Usher syndrome, type 3A, Retinitis pigmentosa 61, CNBP Myotonic dystrophy 2, CNGA1 Retinitis pigmentosa 49, CNGA3 Achromatopsia 2, CNGB1 Retinitis pigmentosa 45, CNGB3 Achromatopsia 3, Macular degeneration, juvenile,

23 median depth CNNM2 Hypomagnesemia 6, renal, Hypomagnesemia, seizures, and mental retardation, CNNM4 Jalili syndrome, CNTN1?Myopathy, congenital, Compton North, CNTNAP2 Cortical dysplasia focal epilepsy syndrome, {Autism susceptibility 15}, Pitt Hopkins like syndrome 1, CNTNAP4 No phenotype COA5?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, COASY Neurodegeneration with brain iron accumulation 6, COCH Deafness, autosomal dominant 9, COG1 Congenital disorder of glycosylation, type IIg, COG4 Congenital disorder of glycosylation, type IIj, COG5 Congenital disorder of glycosylation, type IIi, COG6 Congenital disorder of glycosylation, type IIl, Shaheen syndrome, COG7 Congenital disorder of glycosylation, type IIe, COG8 Congenital disorder of glycosylation, type IIh, COL10A1 Metaphyseal chondrodysplasia, Schmid type, COL11A1 Stickler syndrome, type II, Marshall syndrome, {Lumbar disc herniation, susceptibility to}, Fibrochondrogenesis 1, COL11A2 Stickler syndrome, type III, Otospondylomegaepiphyseal dysplasia, Weissenbacher Zweymuller syndrome, Deafness, autosomal dominant 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2, COL17A1 Epidermolysis bullosa, junctional, non Herlitz type, Epidermolysis bullosa, junctional, localisata variant, Epithelial recurrent erosion dystrophy, COL18A1 Knobloch syndrome, type 1,