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Migrasjonsforstyrrelser Og Pontocerebellær Hypoplasi

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Migrasjonsforstyrrelser og pontocerebellær hypoplasi Genpanel, versjon v02 Panelet het tidligere 'Kortikale malformasjoner og pontocerebellær hypoplasi'. Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC Kolonnen >x10 viser andel av genet som vi forventer blir lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering Gen Transkript >10x Fenotype ACTB NM_001101.3 100% ?Dystonia, juvenile-onset OMIM Baraitser-Winter syndrome 1 OMIM ACTG1 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM AKT1 NM_005163.2 100% Cowden syndrome 6 OMIM Proteus syndrome, somatic OMIM AKT3 NM_005465.4 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM AMPD2 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM ?Spastic paraplegia 63 OMIM AP1S2 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM ARFGEF2 NM_006420.2 100% Periventricular heterotopia with microcephaly OMIM ARX NM_139058.2 89% Epileptic encephalopathy, early infantile, 1 OMIM Proud syndrome OMIM Partington syndrome OMIM Mental retardation, X-linked 29 and others OMIM Lissencephaly, X-linked 2 OMIM Hydranencephaly with abnormal genitalia OMIM ASNS NM_133436.3 99% Asparagine synthetase deficiency OMIM ASPM NM_018136.4 100% Microcephaly 5, primary, autosomal recessive OMIM ASXL1 NM_015338.5 100% Bohring-Opitz syndrome OMIM ATP6V0A2 NM_012463.3 100% Cutis laxa, autosomal recessive, type IIA OMIM Wrinkly skin syndrome OMIM ATR NM_001184.3 99% Seckel syndrome 1 OMIM Gen Transkript >10x Fenotype B3GALNT2 NM_152490.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM B3GNT1 NM_006876.2 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 13 OMIM CASC5 NM_170589.4 99% Microcephaly 3, primary, autosomal recessive OMIM CASK NM_003688.3 100% Mental retardation, with or without nystagmus OMIM Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM FG syndrome 4 OMIM CCDC22 NM_014008.4 99% Ritscher-Schinzel syndrome 2 OMIM CCND2 NM_001759.3 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 OMIM CDK5 NM_004935.3 100% Lissencephaly 7 with cerebellar hypoplasia OMIM CDK5RAP2 NM_018249.5 100% Microcephaly 3, primary, autosomal recessive OMIM CENPJ NM_018451.4 100% Microcephaly 6, primary, autosomal recessive OMIM ?Seckel syndrome 4 OMIM CEP152 NM_014985.3 99% Seckel syndrome 5 OMIM Microcephaly 9, primary, autosomal recessive OMIM CHMP1A NM_002768.4 100% Pontocerebellar hypoplasia, type 8 OMIM CLP1 NM_006831.2 100% Pontocerebellar hypoplasia, type 10 OMIM CNTNAP2 NM_014141.5 100% Cortical dysplasia-focal epilepsy syndrome OMIM Pitt-Hopkins like syndrome 1 OMIM COL18A1 NM_130445.3 99% Knobloch syndrome, type 1 OMIM COL4A1 NM_001845.5 99% Porencephaly 1 OMIM Brain small vessel disease with or without ocular anomalies OMIM Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM COL4A2 NM_001846.2 100% Porencephaly 2 OMIM CRB2 NM_173689.6 100% Ventriculomegaly with cystic kidney disease OMIM CUL4B NM_003588.3 99% Mental retardation, X-linked, syndromic 15 (Cabezas type) OMIM Gen Transkript >10x Fenotype DAG1 NM_004393.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 OMIM DCHS1 NM_003737.3 99% Van Maldergem syndrome 1 OMIM DCX NM_178153.2 100% Lissencephaly, X-linked OMIM Subcortical laminal heteropia, X-linked OMIM DEPDC5 NM_001242896.1 100% Epilepsy, familial focal, with variable foci OMIM DKC1 NM_001363.4 100% Dyskeratosis congenita, X-linked OMIM DNMT3A NM_175629.2 99% Tatton-Brown-Rahman syndrome OMIM DYNC1H1 NM_001376.4 100% Mental retardation, autosomal dominant 13 OMIM EMG1 NM_006331.7 100% Bowen-Conradi syndrome OMIM EML1 NM_004434.2 100% Subcortical band heterotopia, atypical PubMed EPG5 NM_020964.2 99% Vici syndrome OMIM ERCC1 NM_202001.2 100% Cerebrooculofacioskeletal syndrome 4 OMIM ERCC5 NM_000123.3 100% Xeroderma pigmentosum, group G/Cockayne syndrome OMIM Xeroderma pigmentosum, group G OMIM Cerebrooculofacioskeletal syndrome 3 OMIM ERCC6 NM_000124.3 100% De Sanctis-Cacchione syndrome OMIM Cockayne syndrome, type B OMIM Cerebrooculofacioskeletal syndrome 1 OMIM ERMARD NM_018341.2 100% ?Periventricular nodular heterotopia 6 OMIM EXOSC3 NM_016042.3 99% Pontocerebellar hypoplasia, type 1B OMIM EXOSC8 NM_181503.2 100% Pontocerebellar hypoplasia, type 1C OMIM EZH2 NM_004456.4 100% Weaver syndrome OMIM FAT4 NM_024582.4 100% Van Maldergem syndrome 2 OMIM Gen Transkript >10x Fenotype FKRP NM_024301.4 100% Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 OMIM FKTN NM_001079802.1 100% Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 OMIM FLNA NM_001456.3 100% FG syndrome 2 OMIM Heterotopia, periventricular, ED variant OMIM Heterotopia, periventricular OMIM Otopalatodigital syndrome, type II OMIM FLVCR2 NM_017791.2 100% Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome OMIM GFAP NM_002055.4 100% Alexander disease OMIM GMPPB NM_021971.2 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM GPR56 NM_005682.6 100% Polymicrogyria, bilateral perisylvian OMIM Polymicrogyria, bilateral frontoparietal OMIM GPSM2 NM_013296.4 100% Chudley-McCullough syndrome OMIM HEPACAM NM_152722.4 97% Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation OMIM Megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM IER3IP1 NM_016097.4 99% Microcephaly, epilepsy, and diabetes syndrome OMIM ISPD NM_001101426.3 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 OMIM JAM3 NM_032801.4 100% Hemorrhagic destruction of the brain, subependymal calcification, and cataracts OMIM KATNB1 NM_005886.2 100% Lissencephaly 6, with microcephaly OMIM KIAA0196 NM_014846.3 100% Ritscher-Schinzel syndrome 1 OMIM KIAA1279 NM_015634.3 100% Goldberg-Shprintzen megacolon syndrome OMIM KIF11 NM_004523.3 99% Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM Gen Transkript >10x Fenotype KIF2A NM_001098511.2 100% Cortical dysplasia, complex, with other brain malformations 3 OMIM KIF5C NM_004522.2 100% Cortical dysplasia, complex, with other brain malformations 2 OMIM KPTN NM_007059.3 100% Mental retardation, autosomal recessive 41 OMIM L1CAM NM_000425.4 99% Hydrocephalus with congenital idiopathic intestinal pseudoobstruction OMIM Hydrocephalus due to aqueductal stenosis OMIM CRASH syndrome OMIM Corpus callosum, partial agenesis of OMIM MASA syndrome OMIM Hydrocephalus with Hirschsprung disease OMIM LAMA2 NM_000426.3 100% Muscular dystrophy, congenital, due to partial LAMA2 deficiency OMIM Muscular dystrophy, congenital merosin-deficient OMIM LAMB1 NM_002291.2 100% Lissencephaly 5 OMIM LAMC3 NM_006059.3 100% Cortical malformations, occipital OMIM LARGE NM_004737.4 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 OMIM MCPH1 NM_024596.3 100% Microcephaly 1, primary, autosomal recessive OMIM MED12 NM_005120.2 99% Opitz-Kaveggia syndrome OMIM Ohdo syndrome, X-linked OMIM Lujan-Fryns syndrome OMIM MLC1 NM_015166.3 100% Megalencephalic leukoencephalopathy with subcortical cysts OMIM MTOR NM_004958.3 100% Smith-Kingsmore syndrome OMIM MYCN NM_005378.5 100% Feingold syndrome OMIM NBN NM_002485.4 100% Nijmegen breakage syndrome OMIM NDE1 NM_001143979.1 100% Lissencephaly 4 (with microcephaly) OMIM ?Microhydranencephaly OMIM NFIX NM_002501.3 100% Marshall-Smith syndrome OMIM Sotos syndrome 2 OMIM Gen Transkript >10x Fenotype NSD1 NM_022455.4 100% Sotos syndrome 1 OMIM NSDHL NM_015922.2 100% CK syndrome OMIM CHILD syndrome OMIM OCLN NM_002538.3 96% Band-like calcification with simplified gyration and polymicrogyria OMIM OFD1 NM_003611.2 95% Simpson-Golabi-Behmel syndrome, type 2 OMIM Orofaciodigital syndrome I OMIM Joubert syndrome 10 OMIM OPHN1 NM_002547.2 100% Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance OMIM PAFAH1B1 NM_000430.3 98% Lissencephaly 1 OMIM Subcortical laminar heterotopia OMIM PCNT NM_006031.5 99% Microcephalic osteodysplastic primordial dwarfism, type II OMIM PIK3CA NM_006218.2 100% Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic OMIM Cowden syndrome 5 OMIM PIK3R2 NM_005027.3 95% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 OMIM PLK4 NM_014264.4 100% Microcephaly and chorioretinopathy, autosomal recessive, 2 OMIM PNKP NM_007254.3 100% Microcephaly, seizures, and developmental delay OMIM Ataxia-oculomotor apraxia 4 OMIM POMGNT1 NM_017739.3 100% Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 OMIM POMGNT2 NM_032806.5 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 OMIM POMK NM_032237.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM POMT1 NM_007171.3
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    US 20160281 166A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2016/0281166 A1 BHATTACHARJEE et al. (43) Pub. Date: Sep. 29, 2016 (54) METHODS AND SYSTEMIS FOR SCREENING Publication Classification DISEASES IN SUBJECTS (51) Int. Cl. (71) Applicant: PARABASE GENOMICS, INC., CI2O I/68 (2006.01) Boston, MA (US) C40B 30/02 (2006.01) (72) Inventors: Arindam BHATTACHARJEE, G06F 9/22 (2006.01) Andover, MA (US); Tanya (52) U.S. Cl. SOKOLSKY, Cambridge, MA (US); CPC ............. CI2O 1/6883 (2013.01); G06F 19/22 Edwin NAYLOR, Mt. Pleasant, SC (2013.01); C40B 30/02 (2013.01); C12O (US); Richard B. PARAD, Newton, 2600/156 (2013.01); C12O 2600/158 MA (US); Evan MAUCELI, (2013.01) Roslindale, MA (US) (21) Appl. No.: 15/078,579 (57) ABSTRACT (22) Filed: Mar. 23, 2016 Related U.S. Application Data The present disclosure provides systems, devices, and meth (60) Provisional application No. 62/136,836, filed on Mar. ods for a fast-turnaround, minimally invasive, and/or cost 23, 2015, provisional application No. 62/137,745, effective assay for Screening diseases, such as genetic dis filed on Mar. 24, 2015. orders and/or pathogens, in Subjects. Patent Application Publication Sep. 29, 2016 Sheet 1 of 23 US 2016/0281166 A1 SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS S{}}\\93? sau36 Patent Application Publication Sep. 29, 2016 Sheet 2 of 23 US 2016/0281166 A1 &**** ? ???zzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzzz??º & %&&zzzzzzzzzzzzzzzzzzzzzzz &Sssssssssssssssssssssssssssssssssssssssssssssssssssssssss & s s sS ------------------------------ Patent Application Publication Sep. 29, 2016 Sheet 3 of 23 US 2016/0281166 A1 23 25 20 FG, 2. Patent Application Publication Sep. 29, 2016 Sheet 4 of 23 US 2016/0281166 A1 : S Patent Application Publication Sep.
  • Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders

    Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders

    Comprehensive Skeletal Dysplasias and Disorders Panel Test code: MA3301 Is a 251 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of disorders involving the skeletal system. About Comprehensive Skeletal Dysplasias and Disorders This panel covers a broad spectrum of skeletal disorders including common and rare skeletal dysplasias (eg. achondroplasia, COL2A1 related dysplasias, diastrophic dysplasia, various types of spondylo-metaphyseal dysplasias), various ciliopathies with skeletal involvement (eg. short rib-polydactylies, asphyxiating thoracic dysplasia dysplasias and Ellis-van Creveld syndrome), various subtypes of osteogenesis imperfecta, campomelic dysplasia, slender bone dysplasias, dysplasias with multiple joint dislocations, chondrodysplasia punctata group of disorders, neonatal osteosclerotic dysplasias, osteopetrosis and related disorders, abnormal mineralization group of disorders (eg hypopohosphatasia), osteolysis group of disorders, disorders with disorganized development of skeletal components, overgrowth syndromes with skeletal involvement, craniosynostosis syndromes, dysostoses with predominant craniofacial involvement, dysostoses with predominant vertebral involvement, patellar dysostoses, brachydactylies, some disorders with limb hypoplasia-reduction defects, ectrodactyly with and without other manifestations, polydactyly-syndactyly-triphalangism group of disorders, and disorders with defects in joint formation and synostoses. Availability 4 weeks Gene Set Description