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Ciliopathies Ciliopathies About Emory Genetics Laboratory (EGL) EGL specializes in genetic diagnostic testing, with 45 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL offers a combined 1100 molecular genetics, biochemical genetics, and cytogenetics tests under one roof and custom testing for all medically relevant genes, for domestic and international clients. Equally important to improving patient care through quality genetic testing is the contribution EGL makes back to the scientific and medical communities. EGL is one of only a few clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>7000 variants on >500 genes) and is also the only laboratory with a free online database (EmVClass), featuring a variant classification search and report request interface, which facilitates rapid interactive curation and reporting of variants. Ciliopathies Panel The ciliopathies are a group of disorders caused by mutation in genes that encode proteins involved in the formation and function of cilia. Cilia are microtubule-based, hair-like cytoplasmic extensions from the cell surface and are found on almost all cell types. They play a part in multiple biological processes, including cellular motility, extracellular fluid movement, and sensory and signal transduction pathways. As many developmental and physiological functions are dependent on cilia, defects in cilia may lead to disorders in many different organ systems and processes, including: • renal disease • cerebral anomalies • congenital fibrocystic diseases • retinal degeneration • skeletal dysplasia of the pancreas and liver • diabetes • obesity There are 112 genes on the Ciliopathies Panel (please see reverse side for a list of genes analyzed). The panel tests for genes involved in numerous ciliopathy disorders, including: • primary ciliary dyskinesia • Senior-Loken syndrome • Bardet-Biedl syndrome • heterotaxy • Leber congenital amaurosis • Meckel-Gruber syndrome • Joubert and related syndromes • Usher syndrome • nephronophthisis EGL offers the Ciliopathies Panel to aid in diagnosis when a ciliopathy is suspected. Ordering the Ciliopathies Panel can be more cost-effective than single-gene analysis when the specific gene involved in a patient’s disorder is not readily apparent. References: 1. Ferkol and Leigh, (2011), J Pediatr, 160:366-371. 2. Hildebrandt et al., (2011), New Engl J Med, 364:1533-1543. 3. Ware et al., (2011), Proc Am Thorac Soc, 8:444-450. 4. Waters and Beales, (2011), Pediatr Nephrol, 26:1039-1056. Ciliopathies Genes Included on the Ciliopathies Panel* ACVR2B BBS12 CRX GLIS2 MKS1 RDH12 TMEM138 VHL AHI1 C2orf71 DFNB31 GPR98 MYO7A RPE65 TMEM216 WDPCP AIPL1 C5orf42 DNAAF1 GUCY2D NEK1 RPGR TMEM231 WDR19 ARL13B CC2D2A DNAAF2 HYLS1 NEK8 RPGRIP1 TMEM237 WDR35 ARL6 CCDC28B DNAAF3 IFT43 NKX2-5 RPGRIP1L TOPORS XPNPEP3 ATXN10 CCDC39 DNAH5 IFT80 NME8 RSPH4A TRIM32 ZIC3 B9D1 CCDC40 DNAH11 IMPDH1 NODAL RSPH9 TSC1 ZNF423 B9D2 CDH23 DNAI1 INVS NPHP1 SCNN1A TSC2 BBS1 CEP164 DNAI2 IQCB1 NPHP3 SCNN1B TTC21B BBS2 CEP290 DNAL1 KCNJ13 NPHP4 SCNN1G TTC8 BBS4 CEP41 DYNC2H1 KIF7 OFD1 SDCCAG8 TULP1 BBS5 CFTR EVC LCA5 PCDH15 SPATA7 UMOD BBS7 CLRN1 EVC2 LEFTY2 PKD2 TCTN1 USH1C BBS9 CRB1 FOXH1 LRAT PKHD1 TCTN2 USH1G BBS10 CRELD1 GDF1 MKKS RD3 TMEM67 USH2A *Please note that deletion/duplication analysis is not completed for all genes in the panel. Some genes on this panel are associated with additional phenotypes. All genes on the next generation sequencing panel may be ordered separately. Genes included on panels are subject to change. Why Choose EGL? • The EGL Ciliopathies Panel is the most comprehensive ciliopathies panel available. • Free parental testing for up to two changes identified on the panel • Guaranteed 100% coverage with Sanger sequencing fill-in for low coverage regions Test Code Test Name CPT®** Codes MCIL1 Ciliopathies: Sequencing Panel 81404 (x1), 81405 (x1), 81406 (x1) DCIL1 Ciliopathies: Deletion/Duplication Panel 81403 (x1), 81405 (x1), 81406 (x1) **CPT® is a registered trademark of the American Medical Association. For more information about EGL and the nearly 1100 tests we offer: EMAIL CALL WEB [email protected] 404-778-8499 www.geneticslab.emory.edu.
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  • Educational Paper Ciliopathies
    Eur J Pediatr (2012) 171:1285–1300 DOI 10.1007/s00431-011-1553-z REVIEW Educational paper Ciliopathies Carsten Bergmann Received: 11 June 2011 /Accepted: 3 August 2011 /Published online: 7 September 2011 # The Author(s) 2011. This article is published with open access at Springerlink.com Abstract Cilia are antenna-like organelles found on the (NPHP) . Ivemark syndrome . Meckel syndrome (MKS) . surface of most cells. They transduce molecular signals Joubert syndrome (JBTS) . Bardet–Biedl syndrome (BBS) . and facilitate interactions between cells and their Alstrom syndrome . Short-rib polydactyly syndromes . environment. Ciliary dysfunction has been shown to Jeune syndrome (ATD) . Ellis-van Crefeld syndrome (EVC) . underlie a broad range of overlapping, clinically and Sensenbrenner syndrome . Primary ciliary dyskinesia genetically heterogeneous phenotypes, collectively (Kartagener syndrome) . von Hippel-Lindau (VHL) . termed ciliopathies. Literally, all organs can be affected. Tuberous sclerosis (TSC) . Oligogenic inheritance . Modifier. Frequent cilia-related manifestations are (poly)cystic Mutational load kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous Introduction system, occurring either isolated or as part of syn- dromes. Characterization of ciliopathies and the decisive Defective cellular organelles such as mitochondria, perox- role of primary cilia in signal transduction and cell isomes, and lysosomes are well-known
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