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Mendeliome Panel Versie V3 (4362 Genen) Centrum Voor Medische Genetica Gent

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H9.1-OP2-B24: Genpanel Mendeliome, in voege op 15/09/2020 Mendeliome panel versie V3 (4362 genen) Centrum voor Medische Genetica Gent Associated phenotype, OMIM phenotype ID, phenotype Gene OMIM gene ID mapping key and inheritance pattern {Alzheimer disease, susceptibility to}, 104300 (3), Autosomal A2M 103950 dominant A2ML1 610627 {Otitis media, susceptibility to}, 166760 (3), Autosomal dominant [Blood group, P1Pk system, p phenotype], 111400 (3); NOR A4GALT 607922 polyagglutination syndrome, 111400 (3); [Blood group, P1Pk system, P(2) phenotype], 111400 (3) Achalasia-addisonianism-alacrimia syndrome, 231550 (3), AAAS 605378 Autosomal recessive Keratoderma, palmoplantar, punctate type IA, 148600 (3), AAGAB 614888 Autosomal dominant Epileptic encephalopathy, early infantile, 29, 616339 (3), AARS1 601065 Autosomal recessive; Charcot-Marie-Tooth disease, axonal, type (AARS) 2N, 613287 (3), Autosomal dominant Combined oxidative phosphorylation deficiency 8, 614096 (3), AARS2 612035 Autosomal recessive; Leukoencephalopathy, progressive, with ovarian failure, 615889 (3), Autosomal recessive AASS 605113 Hyperlysinemia, 238700 (3), Autosomal recessive ABAT 137150 GABA-transaminase deficiency, 613163 (3), Autosomal recessive HDL deficiency, familial, 1, 604091 (3); Tangier disease, 205400 ABCA1 600046 (3), Autosomal recessive Ichthyosis, congenital, autosomal recessive 4B (harlequin), ABCA12 607800 242500 (3), Autosomal recessive; Ichthyosis, congenital, autosomal recessive 4A, 601277 (3), Autosomal recessive Intellectual developmental disorder with poor growth and with ABCA2 600047 or without seizures or ataxia, 618808 (3), Autosomal recessive Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3), ABCA3 601615 Autosomal recessive Retinal dystrophy, early-onset severe, 248200 (3), Autosomal recessive; Stargardt disease 1, 248200 (3), Autosomal recessive; Fundus flavimaculatus, 248200 (3), Autosomal recessive; ABCA4 601691 {Macular degeneration, age-related, 2}, 153800 (3), Autosomal dominant; Cone-rod dystrophy 3, 604116 (3); Retinitis pigmentosa 19, 601718 (3), Autosomal recessive ?Hypertrichosis, congenital generalized, with gingival ABCA5 612503 hyperplasia, 135400 (3), Autosomal recessive {Alzheimer disease 9, susceptibility to}, 608907 (3), Autosomal ABCA7 605414 dominant 1/219 H9.1-OP2-B24: Genpanel Mendeliome, in voege op 15/09/2020 {Inflammatory bowel disease 13}, 612244 (3); {Colchicine ABCB1 171050 resistance}, 120080 (3) Cholestasis, progressive familial intrahepatic 2, 601847 (3), ABCB11 603201 Autosomal recessive; Cholestasis, benign recurrent intrahepatic, 2, 605479 (3), Autosomal recessive Gallbladder disease 1, 600803 (3), Autosomal recessive, Autosomal dominant; Cholestasis, intrahepatic, of pregnancy, 3, ABCB4 171060 614972 (3), Autosomal recessive, Autosomal dominant; Cholestasis, progressive familial intrahepatic 3, 602347 (3), Autosomal recessive Dyschromatosis universalis hereditaria 3, 615402 (3), Autosomal dominant; Microphthalmia, isolated, with coloboma 7, 614497 ABCB6 605452 (3), Autosomal dominant; [Blood group, Langereis system], 111600 (3); Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3), Autosomal dominant ABCB7 300135 Anemia, sideroblastic, with ataxia, 301310 (3), X-linked recessive ?Deafness, autosomal dominant 77, 618915 (3), Autosomal ABCC1 158343 dominant [Colostrum secretion, variation in], 117800 (3), Autosomal ABCC11 607040 dominant; [Earwax, wet/dry], 117800 (3), Autosomal dominant; [Axillary odor, variation in], 117800 (3), Autosomal dominant ABCC2 601107 Dubin-Johnson syndrome, 237500 (3), Autosomal recessive Pseudoxanthoma elasticum, 264800 (3), Autosomal recessive; Pseudoxanthoma elasticum, forme fruste, 177850 (3), ABCC6 603234 Autosomal dominant; Arterial calcification, generalized, of infancy, 2, 614473 (3), Autosomal recessive Diabetes mellitus, noninsulin-dependent, 125853 (3), Autosomal dominant; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, 618857 (3), Autosomal recessive, ABCC8 600509 Autosomal dominant; Diabetes mellitus, transient neonatal 2, 610374 (3); Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3), Autosomal recessive, Autosomal dominant; Hypoglycemia of infancy, leucine-sensitive, 240800 (3), Autosomal dominant Hypertrichotic osteochondrodysplasia, 239850 (3), Autosomal dominant; ?Atrial fibrillation, familial, 12, 614050 (3), Autosomal ABCC9 601439 dominant; Cardiomyopathy, dilated, 1O, 608569 (3), Autosomal dominant Adrenomyeloneuropathy, adult, 300100 (3), X-linked recessive; ABCD1 300371 Adrenoleukodystrophy, 300100 (3), X-linked recessive ?Bile acid synthesis defect, congenital, 5, 616278 (3), Autosomal ABCD3 170995 recessive Methylmalonic aciduria and homocystinuria, cblJ type, 614857 ABCD4 603214 (3), Autosomal recessive [Junior blood group system], 614490 (3); [Uric acid ABCG2 603756 concentration, serum, QTL1], 138900 (3), ?Autosomal dominant ABCG5 605459 Sitosterolemia 2, 618666 (3) 2/219 H9.1-OP2-B24: Genpanel Mendeliome, in voege op 15/09/2020 {Gallbladder disease 4}, 611465 (3); Sitosterolemia 1, 210250 (3), ABCG8 605460 Autosomal recessive Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and ABHD12 613599 cataract, 612674 (3), Autosomal recessive ABHD5 604780 Chanarin-Dorfman syndrome, 275630 (3), Autosomal recessive Leukemia, Philadelphia chromosome-positive, resistant to imatinib, 608232 (3), Somatic mutation; Congenital heart defects ABL1 189980 and skeletal malformations syndrome, 617602 (3), Autosomal dominant ABO 110300 [Blood group, ABO system], 616093 (3) Acetyl-CoA carboxylase deficiency, 613933 (1), Autosomal ACACA 200350 recessive Isobutyryl-CoA dehydrogenase deficiency, 611283 (3), ACAD8 604773 Autosomal recessive Mitochondrial complex I deficiency, nuclear type 20, 611126 (3), ACAD9 611103 Autosomal recessive Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 ACADM 607008 (3), Autosomal recessive Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3), ACADS 606885 Autosomal recessive ACADSB 600301 2-methylbutyrylglycinuria, 610006 (3), Autosomal recessive ACADVL 609575 VLCAD deficiency, 201475 (3), Autosomal recessive Short stature and advanced bone age, with or without early- onset osteoarthritis and/or osteochondritis dissecans, 165800 (3), Autosomal dominant; Spondyloepimetaphyseal dysplasia, ACAN 155760 aggrecan type, 612813 (3), Autosomal recessive; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3), Autosomal dominant Alpha-methylacetoacetic aciduria, 203750 (3), Autosomal ACAT1 607809 recessive ACAT2 100678 ?ACAT2 deficiency, 614055 (1), Isolated cases Retinal dystrophy with leukodystrophy, 618863 (3), Autosomal ACBD5 616618 recessive ?Dyskeratosis congenita, autosomal dominant 6, 616553 (3), Autosomal recessive, Autosomal dominant; ?Dyskeratosis ACD 609377 congenita, autosomal recessive 7, 616553 (3), Autosomal recessive, Autosomal dominant Renal tubular dysgenesis, 267430 (3), Autosomal recessive; {Myocardial infarction, susceptibility to} (3); {Microvascular ACE 106180 complications of diabetes 3}, 612624 (3); [Angiotensin I- converting enzyme, benign serum increase] (3); {SARS, progression of} (3); {Stroke, hemorrhagic}, 614519 (3) ?Leukodystrophy, progressive, early childhood-onset, 617762 ACER3 617036 (3), Autosomal recessive ACHE 100740 [Blood group, Yt system], 112100 (3) 3/219 H9.1-OP2-B24: Genpanel Mendeliome, in voege op 15/09/2020 {Malaria, vivax, protection against}, 611162 (3); [Blood group, Duffy system], 110700 (3), Autosomal recessive, Autosomal ACKR1 613665 dominant; [White blood cell count QTL], 611862 (3), Autosomal recessive Infantile cerebellar-retinal degeneration, 614559 (3), Autosomal ACO2 100850 recessive; ?Optic atrophy 9, 616289 (3), Autosomal recessive Mitchell syndrome, 618960 (3); Peroxisomal acyl-CoA oxidase ACOX1 609751 deficiency, 264470 (3), Autosomal recessive Bile acid synthesis defect, congenital, 6, 617308 (3), Autosomal ACOX2 601641 recessive ?Lysosomal acid phosphatase deficiency, 200950 (1), Autosomal ACP2 171650 recessive Amelogenesis imperfecta, type IJ, 617297 (3), Autosomal ACP4 606362 recessive Spondyloenchondrodysplasia with immune dysregulation, ACP5 171640 607944 (3), Autosomal recessive ACR 102480 ?Male infertility due to acrosin deficiency, 102480 (2) ACSF3 614245 Combined malonic and methylmalonic aciduria, 614265 (3) ACSL4 300157 Mental retardation, X-linked 63, 300387 (3), X-linked dominant ACSL6 604443 Myelodysplastic syndrome (3); Myelogenous leukemia, acute (3) ACSM3 145505 {?Hypertension, essential} (1) Myopathy, actin, congenital, with cores, 161800 (3), Autosomal recessive, Autosomal dominant; Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3), Autosomal recessive, Autosomal dominant; Myopathy, congenital, with ACTA1 102610 fiber-type disproportion 1, 255310 (3), Autosomal recessive, Autosomal dominant; Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3), Autosomal recessive, Autosomal dominant; ?Myopathy, scapulohumeroperoneal, 616852 (3), Autosomal dominant Aortic aneurysm, familial thoracic 6, 611788 (3), Autosomal dominant; Multisystemic smooth muscle dysfunction syndrome, ACTA2 102620 613834 (3), Autosomal dominant; Moyamoya disease 5, 614042 (3) ?Dystonia, juvenile-onset, 607371 (3), Autosomal dominant; ACTB 102630 Baraitser-Winter syndrome 1, 243310 (3), Autosomal dominant Left ventricular noncompaction 4, 613424 (3), Autosomal dominant; Atrial septal defect 5, 612794 (3), Autosomal ACTC1 102540 dominant; Cardiomyopathy, dilated, 1R, 613424
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    bioRxiv preprint doi: https://doi.org/10.1101/761718; this version posted September 9, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-ND 4.0 International license. Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses Nolan Kamitaki1,2, Aswin Sekar1,2, Robert E. Handsaker1,2, Heather de Rivera1,2, Katherine Tooley1,2, David L. Morris3, Kimberly E. Taylor4, Christopher W. Whelan1,2, Philip Tombleson3, Loes M. Olde Loohuis5,6, Schizophrenia Working Group of the Psychiatric Genomics Consortium7, Michael Boehnke8, Robert P. Kimberly9, Kenneth M. Kaufman10, John B. Harley10, Carl D. Langefeld11, Christine E. Seidman1,12,13, Michele T. Pato14, Carlos N. Pato14, Roel A. Ophoff5,6, Robert R. Graham15, Lindsey A. Criswell4, Timothy J. Vyse3, Steven A. McCarroll1,2 1 Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA 2 Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA 3 Department of Medical and Molecular Genetics, King’s College London, London WC2R 2LS, UK 4 Rosalind Russell / Ephraim P Engleman Rheumatology Research Center, Division of Rheumatology, UCSF School of Medicine, San Francisco, California 94143, USA 5 Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA 6 Center for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, California 90095, USA 7 A full list of collaborators is in Supplementary Information.
  • Skeletal Dysplasias

    Skeletal Dysplasias

    Skeletal Dysplasias North Carolina Ultrasound Society Keisha L.B. Reddick, MD Wilmington Maternal Fetal Medicine Development of the Skeleton • 6 weeks – vertebrae • 7 weeks – skull • 8 wk – clavicle and mandible – Hyaline cartilage • Ossification – 7-12 wk – diaphysis appears – 12-16 wk metacarpals and metatarsals – 20+ wk pubis, calus, calcaneus • Visualization of epiphyseal ossification centers Epidemiology • Overall 9.1 per 1000 • Lethal 1.1 per 10,000 – Thanatophoric 1/40,000 – Osteogenesis Imperfecta 0.18 /10,000 – Campomelic 0.1 /0,000 – Achondrogenesis 0.1 /10,000 • Non-lethal – Achondroplasia 15 in 10,000 Most Common Skeletal Dysplasia • Thantophoric dysplasia 29% • Achondroplasia 15% • Osteogenesis imperfecta 14% • Achondrogenesis 9% • Campomelic dysplasia 2% Definition/Terms • Rhizomelia – proximal segment • Mezomelia –intermediate segment • Acromelia – distal segment • Micromelia – all segments • Campomelia – bowing of long bones • Preaxial – radial/thumb or tibial side • Postaxial – ulnar/little finger or fibular Long Bone Segments Counseling • Serial ultrasound • Genetic counseling • Genetic testing – Amniocentesis • Postnatal – Delivery center – Radiographs Assessment • Which segment is affected • Assessment of distal extremities • Any curvatures, fracture or clubbing noted • Are metaphyseal changes present • Hypoplastic or absent bones • Assessment of the spinal canal • Assessment of thorax. Skeletal Dysplasia Lethal Non-lethal • Thanatophoric • Achondroplasia • OI type II • OI type I, III, IV • Achondrogenesis • Hypochondroplasia