doclista de genes testados pós – natal
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lista de genes testados pós – natal
Regiões alvo de doenças detectadas por CGH: Doenças Relacionadas Gene DIRAS3 SKI TP73 múltiplo HDAC4 PAK2 FKHL7 CTSB DMRT1 DMRT2 EHMT1 GRD1 GRP1 GPC5 GPC6 PCDH9 CHD8 SUPT16H SIX1 Chr/Banda 1p31 1p36 1p36 2p15-16.1 2q37 3q29 6p24 8p23 9p24 9p24 9q34.3 10q22 12q14 13q31 13q31 13q21 14q11 14q11 14q22 1P31deleção 1p36microdeleção 1p36microdeleção 2p15-16.1microdeleção 2p37.3deleção 3q29microdeleção 6p24microdeleção 8p23deleção 9pdeleção 9pdeleção 9q34.3microdeleção 10q22-23deleção 12q14.1-q15deleção 13qdeleção 13qdeleção 13qdeleção 14q11-q22deleção 14q11-q22deleção 14q11-q22microdeleção (Síndrome Branchicotic 3) 14q11-q22microdeleção SIX4 14q22 14q11-q22microdeleção SIX6 14q22 14q11-q22microdeleção OTX2 14q22 14q22microd/orofacial 11 BMP4 14q22 15q13.3microdeleção CHRNA7 15q13 17q21.31microdeleção CRHR1 17q21.31 17q21.31microduplicação MAPT 17q21.31 18qmicrodeleção TCE838 18q21 18qdeleção ZNF407 18p22 18qdeleção GALR1 18q23 22q11.2 BCR 22q11 Aarskog-Scott FGD1 Xp11 1q44microdeleção AKT3 Adrenal hypoplasia congenital NR081 Xp21 Adult-onset autosomal dominant LMNB1 leukodystrophy 5q23 Agammaglobulnemia ligX BTK Xq22.1 Alagille JAG1 20p12 Alexander disease NDUFV1 11q13 Alfa-talassemia-RM HBA1&HBA2 16p13 Alfa-talassemia-RM SOX8 16p13.3 Alfa-talassemi-RM-LigX ATRX Xq21 Alport lig-X COL4A5 Xq22.3 Androgen insensitivity AR Xq12 Angelman/Prader-Willi MAGEL2 15q11 Angelman/Prader-Willi MKRN3 15q11 OMIM # 605193 607872 607872 612513 600430 609425 612852 116810 158170 158170 610253 610659 604597 602446 604404 603581 613457 613457 608389 608389 212550 610125 600625 612001 610443 613533 609522 301808 600377 611867 305400 300200 169500 300755 118450 203450 141750 141750 300032 301050 300068 105830 105830 Regiões alvo de doenças detectadas por CGH: Angelman/Prader-Willi NDN 15q11 Angelman/Prader-Willi NIPA1 15q11 Angelman/Prader-Willi NIPA2 15q11 Angelman/Prader-Willi PWS IC 15q11 Angelman/Prader-Willi SNORD10/7/64/108 15q11 Angelman/Prader-Willi SNORD10 9B 15q11 Angelman/Prader-Willi SnoRNA 15q11 Angelman/Prader-Willi SNRPN 15q11 Angelman/Prader-Willi SNURF 15q11 Angelman/Prader-Willi UBE3A 15q11 Aniridia PAX6 11p13-p14 Anxiety-related personality traits SLC6A4 17p11 Atrial fibrilation GJA5 1q21 Atrial septal defect NKX2-5 5q35 Autism A2BP1 16p13 Autism ATP10A 15q12 Autism CADPS2 7q31 Autism CNTN4 3p25 Autism CNTNAP2 7q35-36 Autism DLGAP2 8p23 Autism EGR2 10q21 Autism EN2 7q36 Autism GABRB3 15q12 Autism MET 7q31 Autism NLGN3 Xq13 Autism NLGN4X Xp22 Autism SHANK3 22q13 Autism SLC4A10 2q24 Autism DISC1 1q42 Autism NRXN1 2p16 Autism NPTX2 7q22 Bartler 1 SLC12A1 15q21 Bartler 2 KCNJ1 11q24 Bartler 3 CLCNKB 1p36 Bartler 4A BSND 1p32 Bartler 4B CLCNKA 1p36 Bartler AD hipocalcemia CASR 3q13.33Beckwith - Wiedemann H19 IC 11p15 Beckwith - Wiedemann KCNQ1 IC 11p15 Beckwith - Wiedemann CDKN1C 11p15 Beckwith - Wiedemann H19 11p15 Beckwith - Wiedemann IGF2 11p15 Beckwith - Wiedemann INS 11p15 Beckwith - Wiedemann PHLDA2 11p15 Beckwith - Wiedemann SLC22A18 11p15 Bilateral frontparietal polymicrogyria GPR56 16q13 105830 105830 105830 105830 105830 105830 105830 105830 105830 105830 106210 607834 121013 108900 209850 209850 209850 209850 209850 209850 209850 209850 209850 209850 209850 209850 209850 209850 209850 209850 600750 601678 241200 607364 602522 613090 601199 130650 130650 130650 130650 130650 130650 130650 130650 606854 Regiões alvo de doenças detectadas por CGH: Birk-Barel KCNK9 8q24 Blepharophimosis FOXL2 3q22 Borjeson-Forssman-Lehmann PHF6 Xq26 Brachydactyly type C GDF5 20q11 Branchiootorenal EYA1 8q13 Breast cancer BRCA2 13q13 Brunner MAOA Xp11 Campomelic dysplasia SOX9 17q24 Carnitine biosynthesis pathwayPAR2 Xq28 Cataract juvenile with microcornea SLC16A12 A and glucosuria 10q23 Cat Eye Syndrome-typeI ATP6V1E1 22q11 Cerebral amyloid angiopathy APP 21q21 Charcot-marie-Tooth disease lig.X PRPS1 Xq22 Charcot-marie-Tooth disease tipo PMP22 1A 17p11 CHARGE CHD7 8q12 Chondrodysplasia punctatareces. CDPX1 Lig.X Xp22 Choroideremia CHM Xp21 Chronic granulomatous diseaseCYBB Xp11 Chronic pancreatitis SPINK1 5p32 Cleft lip MSX1 4p16 Cleft palate SATB2 2p32 Cleidocranial dysplasia RUNX2 6p21 Coffin-Lowry RPS6KA3 Xp22 Congenital adrenal hyperplasiaCYP21A2 (CAH) 6p21.32 Congenital diaphagmatic herniaNR2F2 15q26 Cornelia de Lange 1 NIPBL 5p13 Cornelia de Lange 2 SMC1L1 Xp11 Cowden BMPR1A 10q23 Craniosynostosis MSX2 5q35 Craniosynostosis SOX6 11p15.1-p15.2 Creatine deficiency/ X-lig.mental SLC6A8 retardation 16p11 Cri-du-chat TERT 5p15 Cryptorchidism idiopathic LGR8 13q13 Currarino HLXB9 7q36 Cystinosis CTNS 17p13 Cystinuria with mitochondrial disease PREPL 2p21 Cystinuria with mitochondrial disease SLC3A1 2p21 Dandy-Walker ZIC1 3q24 Dandy-Walker ZIC4 3q24 Danon disease LAMP2 Xq24 Deafness autos.ressev. 1A GJB2 13q12 Deafness sanscrineural and male CATSPER2 infertlity 15q15 Deafness dystonia optic neuronopathy TIMM8A Xq22 Delayed cranial ossification CBFB 16q22 Diabetes insipidus nephrogenicAVPR2 lig.X Xq28 Diabetes melitus transient neonatal ZAC 1 6q24.2 605874 110100 301900 113100 113650 114480 300615 114290 300777 612018 115470 605714 311070 118220 214800 302950 303100 306400 167800 608874 119540 119600 303600 201910 142340 122470 300590 158350 604757 218350 300352 123450 219050 176450 219800 606407 606407 220200 220200 300257 220290 611102 304700 121360 304800 601410 Regiões alvo de doenças detectadas por CGH: Diabetes melitus transient neonatal HYMAI 1 Diamond Blackfan anemia RPS19 Diaphragmatic hernia 3 ZFPM2 DiGeorge1 CRKL DiGeorge1 GATA4 DiGeorge1 HIRA DiGeorge1 MFHAS1 DiGeorge1 TBX1 DiGeorge2 GATA3 DiGeorge2 NEBL Down syndrome critical regionDSCR1 Down syndrome critical regionDSCR3 Down syndrome critical regionDYRK1A Down syndrome critical regionRUNX1 Duane radial ray SALL4 Duchenne muscular dystrophy DMD Dyggve melchiorClausen disease DYM Dystonia 11 PEG10 Dystonia 11 PEG10IC Dystonia 11 SGCE Ectodemal dysplasia EDA Ehlers-Danlos COL1A2 Exudative vireoretinopathy FZD4 Fabry disease GLA Fanconi anemia FANCA Fanconi anemia FANCB Feingold MYCN FG syndrome 4 CASK Forebrain defects TDGF1 Focal dermal hypoplasia PORCN FMR1 sindrome microdeleção FMR1 FMR1 sindrome microdeleção FMR2 Fryns 1q41 DISP1 Gardner APC Gitelman SLC12A3 Glycerol kinase deficiency GK Gonadal dysgenesis SRY Greig cephalopolysyndactyly GLI3 Hemophilia A F8 Hemophilia B F9 Hepatocellular carcinoma IGF2R Hereditary hemorrhagic leslangiectasia MADH4 Hereditary pancreatitis PRSS1 Heterotopia periventricular dom.lig. FLNA aoX Hirschsprung disease EDNRB Hirschsprung disease plus RET 6q24 19q13 8q23 22q11 8p23 22q11 8p23 22q11 10p14 10p12 21q22 21q22 21q22 21q22 20q13 Xp21.1-p21.2 18q21 7p21 7p21 7p21 Xq13 7q21 11q14 Xq22 16q24 Xp22 2q24 Xp11 3p21 Xp11 Xq27 Xq28 1q41 5q22 16q13 Xp21 Yp11.31 7p14 Xq28 Xq27 6q25 18q21 7q34 Xq28 13q22 10q11 601410 105650 610187 188400 188400 188400 188400 188400 601362 601362 190685 190685 190685 190685 607323 310200 223800 159900 159900 159900 305100 225320 133780 301500 227650 300515 164280 300172 187395 300651 300624 300624 229850 175100 263800 307030 480000 175700 306700 306900 114550 175050 276000 300019 600155 142623 Regiões alvo de doenças detectadas por CGH: Holoprosencephaly 1 LSS Holoprosencephaly 1 TMEM1 Holopronsencephaly 2 SIX3 Holopronsencephaly 3 SHH Holopronsencephaly 4 TGIF1 Holopronsencephaly 5 ZIC2 Holoproncensephaly 7 PTCH1 Holoproncensephaly 9 GLI2 Holopronsencephaly and preaxial FBXW11 polydactly Holt-Oram TBX5 HSAS,MASA,CRASH L1CAM Hunter, mucopolysaccharidosisIDS tipo2 Hyperekplexia and epilepsy ARHGEF9 Hypomyelination global cerebral SLC25A12 Hypophosphatemic rickets PHEX Ichthyosis lig. X STS Ichthyosis lig. X VCX3A IGF-1 resistance IGF1R Incontinentia pigmenti IKBKG Infertility and deafness KIAACB77 Joubert 3 AHI1 Joubert 5 CEP290 Kallmann 1 KAL1 Kallmann 2 FGFR1 Kenny-Caffey TBCE Langer-Giedion EXT1 Leri-Weill Dyschondrosteosis PAR1 Lesch-Nyhan HPRT1 Li-Fraumeni 1 TP53 Lissencephaly with cerebellar RELN Lissencephaly lig.X DCX Loeys-Dietz tipo 1A TGFBR1 Loeys-Dietz tipo 2B TGFBR2 Long QT KCNQ1 Lowe OCRL Macrocefalia/autismo PTEN Major effective disorder IMPA1 Marfan 1 FBN1 Meningioma NF2 Doença de Menkes ATP7A Retardo mental DMXL2 Retardo mental Aut.Dom. 5 SYNGAP1 Retardo mental Aut.Rec. 6 GRIK Metachromatic leukodystrophyARSA Microphthalmia syndromic 2 BCOR Microphthalmia syndromic 7 HCCS 21q22 21q22 2p21 7q36 18p31 13q32 9q22 2q14 5q35 12q14 Xq28 Xq28 Xq11 2q31 Xp22 Xp22.31 Xp22 15q25 Xq28 15q15 6q23 12q21 Xp22.31 8p12 1q42 8q24.11 Xp22 Xq26.2 17p13.1 7q22.1 Xq22.3-q23 9q22 3p24 11p15 Xq25 10q23 8q21 15q21.1 22q12 Xq21.1 15q21 6p21.3 6q16 22q13 Xp11 Xp22 600909 602108 157170 142945 142946 609637 610828 610829 264480 142900 303350 309900 300607 612949 307800 308100 308100 147370 308300 611102 608894 610188 308700 147950 24460 150230 127300 300322 151623 257320 300067 609192 610380 192500 309000 605309 125480 154700 607174 309400 612186 612621 611092 250100 300166 300056 Regiões alvo de doenças detectadas por CGH: Microphthalmia SOX2 Migraine familial hemiplegic 3SCN1A Miller-Dieker ABR Miller-Dieker PAFAH1B1 Miller-Dieker PITPNA Miller-Dieker YWHAE Mitochondrial complex deficiency NDUFA1 Mowat-Wilson ZEB2 Nail-patella LMX1B Nephonophthisis NPHP1 Neurofibromatose tipo 1 JJAZ1 Neurofibromatose tipo 1 NF1 NFIA haploinsuficiency NFIA Noonan 1 PTPN11 Noonan4 SOS1 Noonan5 RAF1 Doença de Norrie NDP Obesidade severa SM1 Oculocutaneous albinism tipo 2OCA2 Oligodontia PAX9 Opitz G MID2 Opitz G MID1 Opitz-Kaveggia MED12 Optic atrophy TP73L Deficiência ornitina transcarbamilase OTC Orofaciodigital 1 OFD1 Osteogenesis imperfecta COL1A1 Osteokilosis LEMD3 Doença Pelizaeus-Merzbacher PLP1 Phosphoglycerate kinase deficiency PGK1 Pitt-Hopkins TCF4 Doença do Rim Policístico PKD1 Doença do Rim Policístico 2 PKD2 Polidactilia preaxial 2 LMER1 Potocki-Shaffer ALX4 Potocki-Shaffer EXT2 Pseudohypoparathyroidism Ia GNAS Pseudohypoparathyroidism Ia GNASIC Pseudovaginal perineoscrotal hypospadias SRD5A2 Pulmonary vencocclusive disease BMPR2 Pyruvate dehydrogenase deficiency PDHA1 Renal cysts and diabetes TCF2 Retinoblastoma RB1 Rett syndrome congenital variant FOXG 1B Rett MECP2 Rieger PITX2 3q26.3-q27 2q24.3 17p13.3 17p13.3 17p13.3 17p13.3 Xq24 2q22 9q33.3 2q13 17q11.2 17q11.2 1p31.3 12q24 2p22.1 3p25 Xp11 6q16 15q13 14q13 Xq22 Xq22 Xq13.1 3q28 Xp11.4 Xp22.2 17q21 12q14.3 Xq22.2 Xp21 18q21.2 16p13 4q22.1 7q36 11p11.2 11p11.2 20q13 20q13 2p23 2q32 Xp22 17q12 13q14.2 14q12 Xq28 4q25 206900 609634 247200 247200 247200 247200 252010 235730 161200 256100 162200 162200 600727 163950 610733 611553 310600 603128 203200 604625 300204 300000 305450 165500 311250 311200 120150 166705 312080 300653 610954 601313 613095 174500 601224 601224 108580 108580 264600 265450 312170 137920 180200 613454 312750 180500 Regiões alvo de doenças detectadas por CGH: Rolandic epilepsy, mental retardation SRPX2and speech Xq22 dysplasia Rubinstein-Taybi CREBBP 16p13 Rubinstein-Taybi DNASE1 16p13 Russel silver CPA4 7q32 Russel silver GRB10 7p12 Schizophrenia 11 NRG3 10p22 Sclerosteosis SOST 17q21.31 Scoliosis CHD2 15q25 Short stature LHX4 1q25.2 SHOX SHOX Xq22.33 Simpson-Golabi-Behmel tipo1 GPC3 Xq26 Smith-Lemli-Opitz DHCR7 11q13.4 Small size PEG3 19q13 Small size PEG3IC 19q13 Small size ZIM2 19q13 Smith-Magenis RAI1 17p11.2 Sotos NSD1 5p35.3 Split-hand/footmalformation1 with DLX5deafness 7q21.3 Split-hand/footmalformation1 with SHFM1 deafness 7q21.3 Split-hand/footmalformation3 BTRC 10q24.32 Split-hand/footmalformation3 FBXW4 10q24.32 Split-hand/footmalformation3 LBX1 10q24.32 Split-hand/footmalformation3 POLL 10q24.32 Spli-hand/footmalformation DLX1 2q31 Spli-hand/footmalformation DLX2 2q31 Stickler 1 COL2A1 12q13.11 Stickler 2 COL11A1 1p21 Synpolydactyly EVX2 2q31 Synpolydactyly HOXD13 2q31.1 Synpolydactyly HOXD9 2q31 Thrombastheria of Glanzmann ITGB3 and Naegeli 17q21 Thrombocytopenia absent radius GJA8 1q21.1 Timdhy CACNA1C 12p13 Treacher collins mandibulofacial TCOF1 dysostosis 5q33 Townes-Brocks SALL1 16q12.1 Trichorhinophalangeal TRPS1 8q23.3 Tuberous sclerosis TSC1 9q34.13 Tuberous sclerosis 2 TSC2 16p13.3 Ulnar-mammary TBX3 12q24.21 Usher ABCC8 11p15 Usher USH1C 11p15 van der Woude IRF6 1q32.2 Vascular endothelial growth factor VEGFA disorders 6p21 Verbal dyspraxia FOXP2 7q31.1 Visceral heterdaxy CFC1 2q21 von Hippel -Lindau VHL 3p25.3 300643 610543 610543 607635 180860 608078 269500 602119 262700 312865 312870 270400 601483 601483 182290 117550 220600 220600 600095 600095 600095 600095 606708 606708 108300 604840 186000 186000 186000 273800 274000 601005 154500 107480 150230 191100 613254 181450 276904 276904 119300 192240 602081 605376 193300 Regiões alvo de doenças detectadas por CGH: WaardenburgI PAX3 Waardenburg IIA MITF WAGR WT1 Williams-Beuren ELN Williams-Beuren GTF2I Williams-Beuren GTF2IRD1 Williams-Beuren LIMK1 Williams-Beuren NCF1 Wolf-Hirschhom LETM1 Wolf-Hirschhom WHSC1 Wolf-Hirschhom WHSC2 Inativação do X- Familial skewed XIST Inativação do X - dyskeratosis DKC1 congenita Heterotaxia lig X ZIC3 Juvenil retinoschisis lig.X RS1 Lymphoproliferativo tipo 1 lig.X SH2D1A Lymphoproliferativo tipo 2 lig.X BIRC4 tipo 2 Retardo mental ligado ao X ARX Retardo mental ligado ao X IL1RAPL1 Retardo mental ligado ao X PAK3 Retardo mental ligado ao X SOX3 Espasmos ligado ao X CDKL5 Retardo mental ligado ao X ACSL4 Retardo mental ligado ao X AGTR2 Retardo mental ligado ao X AP1S2 Retardo mental ligado ao X ARHGEF6 Retardo mental ligado ao X ATP6AP2 Retardo mental ligado ao X BRWD3 Retardo mental ligado ao X CUL4B Retardo mental ligado ao X DLG3 Retardo mental ligado ao X FTSJ1 Retardo mental ligado ao X GDI1 Retardo mental ligado ao X GRIA3 Retardo mental ligado ao X HADH2 Retardo mental ligado ao X JARID1C Retardo mental ligado ao X KIAA2022 Retardo mental ligado ao X OPHN1 Retardo mental ligado ao X PHF8 Retardo mental ligado ao X SLC38A5 Retardo mental ligado ao X SMS Retardo mental ligado ao X SYN1 Retardo mental ligado ao X TM4SF2 Retardo mental ligado ao X UBE2A Retardo mental ligado ao X UPF3B Retardo mental ligado ao X VCX3A Retardo mental ligado ao X ZDHHC15 2p36.1 3p14.1 11p13 7q11.23 7q11.23 7q11.23 7q11.23 7q11.23 4p16.3 4p16.3 4p16.3 Xq13 Xq28 Xq26.3 Xp22 Xq25 Xq25 Xp21 Xp21 Xp22 Xq27 Xp22.13 Xp22 Xq23 Xq22 Xq26 Xp11 Xp21 Xp24 Xq13 Xp11 Xq28 Xq24 Xp11 Xp11 Xq13 Xq12 Xp11 Xp11 Xp22 Xp11 Xp11 Xq23 Xq24 Xp22 Xq13 193500 193510 194072 194050 194050 104050 194050 194050 194190 194190 194190 314670 305000 306955 312700 308240 308240 300419 300143 300558 300123 300672 300387 300084 300630 300436 300423 300659 300354 300189 309549 309541 300699 300220 300534 300524 300486 300263 309549 309583 300491 300210 312180 300676 300533 300577 Regiões alvo de doenças detectadas por CGH: Retardo mental ligado ao X ZDHHC9 Retardo mental ligado ao X ZNF261 Retardo mental ligado ao X ZNF41 Retardo mental ligado ao X ZNF81 Retardo mental ligado ao X GRIA3 Retardo mental lig.X- Allan Herndon SLC16A2 Dudley Retardo mental lig. X - Christianson SLC9A6 type Retardo mental lig.X-Stocco dos SHROOM4 Santos Retardo mental lig. X- Turner HUWE1 Retinoblastoma RB1 Xq28 microdeleção ABCD1 Xq28 microduplicação RPL10 Deleção Xp11.3 RP2 Deleção Xp11.3 ZNF674 XY Sex reversal NR5A1 Unique subtelomeric regions múltiplo Unique pericentromeric regionsmúltiplo Aneuploidia múltiplo Xq25 Xq13 Xp11 Xp11 Xq24 Xq13 Xq26 Xp11 Xp11 13q14.2 Xq28 Xq28 Xp11 Xp11 9q33.3 43 sítios 43 sítios todos 300799 300061 314995 300498 300699 300523 300243 300434 300706 180200 300475 300815 300578 300578 184757 O a-‐CGH HD realiza o rastreamento de todo o genoma para inves7gação de anomalias cromossômicas. Esta lista sofre alterações constantemente, visto que muitas alterações genômicas são descobertas, com a inclusão de novos genes,síndromes e regiões cromossômicas de interesse.
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