PITTSBURGH CYTOGENETICS LABORATORY
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1 PITTSBURGH CYTOGENETICS LABORATORY GENES COVERED BY X-HR AND SYNDROMES DETECTED BY X-HR # GENES LOCI DISORDERS 1 ABCB7 Xq12-q13 Anemia, sideroblastic, with ataxia 2 ABCD1 Xq28 Adrenoleukodystrophy 3 ACSL4 Xq22.3-q23 X-linked mental retardation 4 AFF2 Xq28 Fragile X E (FRAXE) mental retardation 5 AGTR2 Xq22-q23 Mental retardation, X-linked 6 ALAS2 Xp11.21 Anemia, sideroblastic, X-linked 7 AP1S2 Xp22.2 Mental retardation, X-linked 8 AR Xq11.2-q12 Androgen insensitivity syndrome 9 ARHGEF6 Xq26.3 Mental retardation, X-linked 10 ARHGEF9 Xq11.1 X-linked mental retardation (XLMR)//Hyperekplexia and epilepsy 11 ARSE Xp22.3 Chondrodysplasia punctata, X-linked recessive (CDPX) 12 ARX Xp21 Infantile spasm syndrome, X-linked (ISSX), West, Proud, XLAG, Partington, multifocal epilepsy //Early infantile epileptic encephalopathy-1 (EIEE1)( X-linked infantile spasm syndrome-1-issx1) 13 ATP6AP2 Xp11.4 Mental retardation, X-linked, with epilepsy (XMRE) 14 ATP7A Xq13.2-q13.3 Menkes disease (MNK) and occipital horn syndrome 15 ATRX Xq13.1-q21.1 ATRX, XLMR-Hypotonic facies syndrome, ATR-X, and others 16 AVPR2 Xq28 Nephrogenic syndrome of inappropriate antidiuresis; NSI; Diabetes insipidus, nephrogenic 17 BCOR Xp21.2-p11.4 Microphthalmia syndromic (MCOPS2) 18 BMP15 Xp11.2 Ovarian dysgenesis 2 19 BRWD3 Xq21.1 Mental retardation, X-linked BTK Xq21.33-q22 X-linked agammaglobulinemia 21 CACNA1F Xp11.23 Aland Island eye disease 22 CASK Xp11.4 X-linked mental retardation with microcephaly & disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome 23 CD40LG Xq26 Immunodeficiency, X-linked, with hyper-igm 24 CDKL5 Xp22 Early infantile epileptic encephalopathy-2 (EIEE2) 25 CHM Xq21.2 Choroidoremia 26 CLCN5 Xp Dent disease//candidate, chloride channel p COL4A5 Xq22.2 Alport syndrome, X-linked 28 COL4A5, Xq22.3 X-linked Alport plus diffuse leiomyomatosis (ATS-DL) COL4A6 29 CSF2RA Xp22.33 Surfactant metabolism dysfunction, pulmonary, 4 30 CUL4B Xq23 CUL4B, Cabezas syndrome, Mental retardation X-L syndromic CYBB Xp21.1 Chronic granulomatous disease, X-linked 1
2 32 DCX Xq22.3-q23 X-linked lissencephaly-1 (LISX1) 33 DIAPH2 Xq21.33 Premature ovarian failure (POF2A) 34 DKC1 Xq28 Dyskeratosis congenita 35 DLG3 Xq13.1 Discs large, Drosophila homologue 3/Mental retardation X-linked DMD Xp21.2 Duchenne muscular dystrophy/ Becker muscular dystrophy 37 EBP Xp11.23 Chondrodysplasia punctata, X-linked dominant 38 ED1 Xq12-q13.1 Hypohydrotic ectodermal dysplasia (EDA) 39 EFHC2 Xp11.3 Juvenile myoclonic epilepsy(jme) 40 EFNB1 Xq12 Craniofrontonasal dysplasia 41 EMD Xq28 Emery-Dreifuss muscular dystrophy 42 F8 Xq28 Hemophilia A 43 F9 Xq27.1-q27.2 Hemophilia B 44 FAM123B/WTX Xq11.2 Osteopathia striata with cranial sclerosis 45 FAM58A Xq28 STAR syndrome 46 FANCB Xp22.2 Fanconi anemia, complementation group B 47 FGD1 Xp11.21 Faciogenital dysplasia 48 FHL1 Xq26 Cardiac Involvement, Scapuloperoneal myopathy (X-linked dominant) 49 FLNA Xq28 Heterotopia, periventricular, X-linked dominant/ Otopalatodigital syndrome type 1 (OPD)/multifocal epilepsy in females//melnick-needles syndrome; BPNH; OPD; Multifocal epilepsy in females 50 FMR1 Xq27.3 Fragile-X mental retardation syndrome (FMR1)//Fragile X-Syndrome (epilepsy) 51 FOXP3 Xp11.23 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 52 FRMD7 Xq26.2 Nystagmus 1, congenital, X-linked 53 G6PD Xq28 G6PD deficiency 54 GATA1 Xp11.23 Dyserythropoietic anemia with thrombocytopenia 55 GDI1 Xq28 X-linked mental retardation (XLMR) 56 GJB1 Xq13.1 Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 57 GK Xp21.3 Glycerol kinase deficiency (GKD) 58 GLA Xq22.1 Fabry disease 59 GPC3 Xq26.1 Simpson-Golabi-Behmel syndrome type 1;(SGBS1) 60 GPC4 Xq26.1 Simpson-Golabi-Behmel syndrome type 1; Wilms'tumor 61 GPR143 Xp22.2 Ocular albinism, type I, Nettleship-Falls type 62 GRIA3 Xq25-q26 X-linked mental retardation (XLMR) (MRX94)//Candidate, glutamate receptor 63 GRPR Xp22.2-p22.13 Autism 2
3 64 HSD17B10 Xp beta-hydroxysteroid dehydrogenase X deficiency 65 HUWE1 Xp11.22 Mental Retardation, X-linked 66 IDS Xq28 Mucopolysaccharidosis type II (MPS2)/Hunter syndrome 67 IGBP1 Xq13.1-q13.3 Cardiac Involvement, Agenesis of the corpus callosum with MR and ocular coloboma 68 IKBKG Xq28 Ectodermal dysplasia, hypohidrotic, with immune deficiency 69 IL1RAPL1 Xp22.1-p21.3 Autism 70 IL2RG Xq13.1 Severe combined immunodeficiency, X-linked 71 KAL1 Xp22.32 Kallmann syndrome 1 72 KDM5C Xp11.22-p11.21 Mental retardation, X-linked, syndromic, JARID1C-related 73 KDM6A Xp11.3 Kabuki syndrome 2 74 L1CAM Xq28 Hydrocephalus 75 LAMP2 Xq24 Danon disease 76 MAMLD1 Xq28 Hypospadias 2, X-linked 77 MAOA Xp11.3 Brunner syndrome 78 MBTPS2 Xp22.12 Ichthyosis follicularis, atrichia, and photophobia 79 MECP2 Xq28 MECP2 male duplication syndrome/rett syndrome (RTT); MECP2 deletion 80 MED12 Xq13 Opitz-Kaveggia syndrome 81 MID1 Xp22 Opitz BBB syndrome 82 MTM1 Xq28 Myotubular myopathy, X-linked 83 Multiple Xp22.2 Microphthalmia 7 with linear skin defects 84 Multiple Xp11.22 Xp11.22-linked mental retardation 85 Multiple Xp11.3 Xp11.3 Microdeletion 86 Multiple Xp11.1-p21.2 Xp11.4-p21.2 Contiguous gene deletion 87 NDP Xp11.4 Norrie disease 88 NDUFA1 Xq24 Mitochondrial complex I deficiency 89 NHS Xp22.13 Nance-Horan syndrome 90 NLGN3 Xq13.1 Autism / Asperger syndrome-1, susceptibility 91 NLGN4X Xp22.32-p22.31 Autistic features, X-linked, susceptibility to, 1 92 NR0B1/DAX1 Xp21.2 Adrenal hypoplasia congenita (AHC)/Dosage sensitive sex reversal 93 NSDHL Xq28 CHILD syndrome/ck syndrome 94 NXF5 Xq22.1 X-Linked Mental Retardation (XLMR) 95 NYX Xp11.4 Night blindness, congenital stationary, type 1A 96 OCRL Xq25-26 Lowe syndrome/dent disease 97 OFD1 Xp22 Oro-facio-digital 1 (OFD1)/Joubert syndrome 10 3
4 98 OPHN1 Xq12 Cerebellar hypoplasia//syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia 99 OPN1LW Xq28 Colorblindness, protan ; Blue-cone monochromacy, 100 OPN1MW Xq28 Colorblindness, deutan ; Blue-cone monochromacy 101 OTC Xp21.1 Ornithine transcarbamylase deficiency (OTC) 102 PAK3 Xq22.3 X-linked mental retardation PCDH19 Xq22.1 Epileptic encephalopathy, early infantile, PDHA1 Xp22.12 Leigh syndrome, X-linked 105 PGK1 Xq21.1 Phosphoglycerate kinase 1 deficiency 106 PHEX Xp22.11 hosphatemic rickets, X-linked dominant 107 PHF6 Xq26.3 Borjeson-forssman-lehmann syndrome (epilepsy) 108 PHF8 Xp11.22 Siderius type X-linked mental retardation 109 PHKA1 Xq12-q13 Muscle glycogenosis 110 PHKA2 Xp22.2-p22.1 Glycogenosis, X-linked hepatic, type I (3) 111 PLP1 Xq22.2 Pelizaeus-Merzbacher 112 PORCN Xp11.23 Focal dermal hypoplasia/goltz 113 POU3F4 Xq21.1 Deafness, X-linked 2 (DFNX2) 114 PQBP1 Xp11.23 Renpenning syndrome 1 (RENS1)/Sutherland-Haan XLMR syndrome/golabi-ito-hall syndrome 115 PRPS1 Xq22.3 Deafness, X-linked (DFNX1), Arts syndrome 116 PTCHD1 Xp22.11 Autism 117 RP2 Xp11.4-p11.21 X-linked retinitis pigmentosa 118 RPGR Xp11.4 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness 119 RPL10 Xq28 Autism 120 RPS6KA3 Xp22.2-p22.1 Coffin-Lowry syndrome (CLS) 121 RS1 Xp22.13 Retinoschisis 1, X-Linked, Juvenile; Rs1 122 SH2D1A Xq25-q26 X-linked lymphoproliferative disease (XLP) 123 SHROOM4 Xp11.22 Stocco dos Santos XLMR syndrome 124 SLC16A2 Xq13.2 Allan-Herndon-Dudley syndrome 125 SLC6A8 Xq28 Creatine deficiency syndrome /X-linked mental retardation (XLMR)//Xlinked mental retardation with seizures 126 SLC9A6 Xq26.3 X-linked mental retardation (XLMR), syndromic, Chrystianson type//xlinked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome 127 SMC1A Xp11.22-p11.21 Cornelia de Lange syndrome (CDLS), X-linked 128 SMPX Xp22.12 Deafness, X-linked 4 (DFNX4) 4
5 129 SMS Xp22.1 XLMR / Snyder-Robinson syndrome 130 SOX3 Xq27.1 Mental retardation X-linked with isolated growth hormone deficiency (MRGH) 131 SRPX2 Xq21.33-q23 Perisylvian polymicrogyria (Polymicrogyria, bilateral perisylvian; BPP//Rolandic epilepsy, mental retardation, and speech dyspraxia, X- linked (RESDX) 132 STS Xp22.32 Ichthyosis, X-linked (steroid sulfatase deficiency) 133 SYN1 Xp11.23 Epilepsy, X-linked, with variable learning disabilities and behavior disorders 134 SYP Xp11.23-p11.22 Mental retardation, X-linked, with or without epilepsy 135 TAZ Xq28 Barth syndrome 136 TBX22 Xq21.1 Cleft palate with or without ankyloglossia 137 TIMM8A Xq22.1 Mohr-Tranebjaerg syndrome 138 TRAPPC2 Xp22 Spondyloepiphyseal dysplasia tarda 139 TSPAN7 Xp11.4 X-linked mental retardation (XLMR) (MRX58) 140 UBE2A Xq24-q25 Mental retardation, X-linked syndromic 141 UBQLN2 Xp11.21 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 142 UPF3B Xq25-q26 Mental retardation, X-linked, syndromic VBP1 Xq28 Von Hippel-Lindau syndrome 144 VCX3A Xp22 X-linked mental retardation (XLMR) 145 WAS Xp11.4-p11.21 Wiskott-Aldrich syndrome 146 XIAP Xq25 Lymphoproliferative syndrome, X-linked, XIST Xq13.2 X-inactivation, familial skewed, XIST deficiency 148 XK Xp21.1 McLeod syndrome (3); McLeod syndrome with neuroacanthosis (3)] 149 YIPF6 Xq12 severe psychomotor retardation, lack of expressive language, and seizures 150 ZCCHC12 Xq24 X-linked mental retardation (XLMR) 151 ZDHHC15 Xq13.3 X-linked mental retardation (XLMR) (MRX91) 152 ZDHHC9 Xq26.1 X-linked mental retardation (XLMR) 153 ZIC3 Xq26.2 X-linked heterotaxy, ZIC3 154 ZMYM3 Xq13.1 X-linked mental retardation (XLMR) 155 ZNF41 Xp11.23 X-Linked Mental Retardation (XLMR) (MRX89) 156 ZNF674 Xp11.2-p11.3 Xp11.3 deletion with mental retardation( XLMR) 157 ZNF81 Xp11.23 X-linked mental retardation (XLMR) (MRX45) 5
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