PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM

OMIM Update List for November, 2009

November 30, 2009

New Entries:

Clinical Synopsis for 613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2

Clinical Synopsis for 613144 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 3; CACD3

Changed Entries:

102582 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; STAT3

103720 ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE; ADH1B

104300 ALZHEIMER DISEASE; AD

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

133239 ESOPHAGEAL CANCER

147060 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

147582 IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2

159465 MYELIN-OLIGODENDROCYTE GLYCOPROTEIN; MOG

163905 HIGH MOBILITY GROUP BOX 1; HMGB1

163906 HIGH MOBILITY GROUP BOX 2; HMGB2

176941 TYROSINE KINASE 2; TYK2

179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2

181000 SARCOIDOSIS, SUSCEPTIBILITY TO, 1; SS1

243700 HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

300193 HIGH MOBILITY GROUP BOX 3; HMGB3

600038 MEGAKARYOCTYE-ASSOCIATED TYROSINE KINASE; MATK

600863 CASEIN KINASE I, EPSILON; CSNK1E

600864 CASEIN KINASE I, DELTA; CSNK1D

602389 Tu TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL; TUFM

602572 ANNEXIN A11; ANXA11

603892 ELONGATION FACTOR Tu GTP-BINDING DOMAIN-CONTAINING 2; EFTUD2

604253 CASEIN KINASE I, GAMMA-3; CSNK1G3

605655 F-BOX AND LEUCINE-RICH REPEAT PROTEIN 5; FBXL5

611432 DEDICATOR OF CYTOKINESIS 8; DOCK8

611521 TYROSINE KINASE 2 DEFICIENCY

613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2

613144 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 3; CACD3

November 25, 2009

New Entries:

613145 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14; SLEB14

613148 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28

613149 CDKN2B ANTISENSE RNA; CDKN2BAS

Changed Entries:

114010 CARBAMOYL PHOSPHATE SYNTHETASE/ASPARTATE TRANSCARBAMOYLASE/DIHYDROOROTASE;

118950 CITRATE SYNTHASE, MITOCHONDRIAL; CS

120980 INTEGRIN, ALPHA-M; ITGAM

122700 COUMARIN RESISTANCE

123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP

123889 INTERLEUKIN 10 RECEPTOR, BETA; IL10RB

135580 FIBROMUSCULAR DYSPLASIA OF ARTERIES

146933 INTERLEUKIN 10 RECEPTOR, ALPHA; IL10RA

147250 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR; SMMCI

151510 INTEGRIN, ALPHA-X; ITGAX

152700 SYSTEMIC LUPUS ERYTHEMATOSUS; SLE

155755 MELANOMA-ASTROCYTOMA SYNDROME

170500 HYPERKALEMIC PERIODIC PARALYSIS; HYPP

170650 PERIODONTITIS, AGGRESSIVE, 1

178500 PULMONARY FIBROSIS, IDIOPATHIC

179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2

180300 RHEUMATOID ARTHRITIS; RA

202700 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 1; SCN1

216340 CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL

217070 COMPLEMENT COMPONENT 7; C7

253000 MORQUIO SYNDROME A

257350 NUCHAL BLEB, FAMILIAL

266500 REFSUM DISEASE, ADULT

266600 INFLAMMATORY BOWEL DISEASE 1; IBD1

271520 SPONDYLOCOSTAL DYSOSTOSIS WITH ANAL ATRESIA AND UROGENITAL ANOMALIES

300031 FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A

300481 CYTOCHROME b(-245), BETA SUBUNIT; CYBB

300582 SHORT STATURE, IDIOPATHIC, X-LINKED; ISS

300805 ANTISENSE FMR1 GENE

300806 FMR2 GENE; FMR2

300807 THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT

300808 G PROTEIN-COUPLED RECEPTOR 143; GPR143

305990 GLYCINE RECEPTOR, ALPHA-2 SUBUNIT; GLRA2

310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE; XRN

600321 DIABETES MELLITUS, INSULIN-DEPENDENT, 7; IDDM7

600421 GLYCINE RECEPTOR, ALPHA-3 SUBUNIT; GLRA3

600558 SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4

600982 MITOGEN-ACTIVATED KINASE KINASE KINASE 1; MAP3K1

601757 PEROXISOME BIOGENESIS FACTOR 7; PEX7

601817 NONMETASTATIC CELLS 3, PROTEIN EXPRESSED IN; NME3

602026 PHYTANOYL-CoA HYDROXYLASE; PHYH

602991 NOGGIN, MOUSE, HOMOLOG OF; NOG

603167 BCL2 ANTAGONIST OF CELL DEATH; BAD

604271 SHORT STATURE, IDIOPATHIC, AUTOSOMAL

604976 PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-3; PRKAG3

606415 MOVED TO 114580

607218 INTERFERON REGULATORY FACTOR 5; IRF5

608582 EPIDERMAL GROWTH FACTOR-LIKE 7; EGFL7

608944 FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 1; FREM1

608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

609939 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6

610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS

610706 DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA

611139 CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8; CHDS8

611192 ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 11; ANKRD11

612251 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10

612253 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11; SLEB11

612567 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25

613096 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36

613102 HYPOTRICHOSIS AND RECURRENT SKIN VESICLES

613103 SERINE/ARGININE REPETITIVE MATRIX PROTEIN 4; SRRM4

613104 CHROMOSOME 9 OPEN READING FRAME 7; C9ORF7

613106 VERTIGO, BENIGN RECURRENT, 2; BRV2

613107 NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL DOMINANT 2; SCN2

613108 CANDIDIASIS, FAMILIAL, 4; CANDF4

613109 GM2 ACTIVATOR; GM2A

613111 CATHEPSIN A; CTSA

613113 NEUROFIBROMIN 1; NF1

613114 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER B; FAM134B

613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B

613116 THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY

613117 SMALL NUCLEOLAR RNA, C/D BOX, 50A; SNORD50A

613119 BRUGADA SYNDROME 6

613145 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 14; SLEB14

Clinical Synopsis for 235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

November 24, 2009

New Entries:

613105 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2

613144 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 3; CACD3

613146 MICRO RNA 184; MIR184

613147 MICRO RNA 205; MIR205

Changed Entries:

100800 ACHONDROPLASIA; ACH

119300 VAN DER WOUDE SYNDROME; VWS

119500 POPLITEAL PTERYGIUM SYNDROME; PPS

147020 IMMUNOGLOBULIN MU; IGHM

162200 NEUROFIBROMATOSIS, TYPE I; NF1

179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2

180330 REMOVED FROM DATABASE

187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1

215500 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 1; CACD1

230740 GAPO SYNDROME

253300 SPINAL MUSCULAR ATROPHY, TYPE I; SMA1

260400 SHWACHMAN-DIAMOND SYNDROME; SDS

271530 BRACHYOLMIA TYPE 1, HOBAEK TYPE

272460 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME; SCT

300067 LISSENCEPHALY, X-LINKED, 1; LISX1

600138 RETINITIS PIGMENTOSA 11; RP11

600490 NUCLEAR FACTOR OF ACTIVATED T CELLS, CYTOPLASMIC, CALCINEURIN-DEPENDENT

600829 INOSITOL POLYPHOSPHATE PHOSPHATASE-LIKE 1; INPPL1

604395 MutL, E. COLI, HOMOLOG OF, 3; MLH3

605061 TERF2-INTERACTING PROTEIN; TERF2IP

606419 PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF; PRPF31

607093 5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

607199 INTERFERON REGULATORY FACTOR 6; IRF6

609302 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER

609304 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3

611162 MALARIA, SUSCEPTIBILITY TO

612090 MICRO RNA 200A; MIRN200A

612091 MICRO RNA 200B; MIRN200B

612092 MICRO RNA 200C; MIR200C

612093 MICRO RNA 141; MIRN141

612094 MICRO RNA 429; MIRN429

613113 NEUROFIBROMIN 1; NF1

613146 MICRO RNA 184; MIR184

November 23, 2009

New Entries:

613113 NEUROFIBROMIN 1; NF1

613136 TETRASPANIN 5; TSPAN5

613137 TETRASPANIN 9; TSPAN9

613138 TETRASPANIN 12; TSPAN12

613139 TETRASPANIN 13; TSPAN13

613140 TETRASPANIN 15; TSPAN15

613141 DELTEX, DROSOPHILA, HOMOLOG OF, 2; DTX2

613142 DELTEX, DROSOPHILA, HOMOLOG OF, 3; DTX3

613143 DTX3-LIKE; DTX3L

Clinical Synopsis for 613096 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2

102610 ACTIN, ALPHA, SKELETAL MUSCLE 1; ACTA1

103030 ADENYLATE KINASE 3-LIKE 1; AK3L1

103280 H19 GENE; H19

103720 ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE; ADH1B

103780 ALCOHOL DEPENDENCE

104300 ALZHEIMER DISEASE; AD

114030 CAFE-AU-LAIT SPOTS, MULTIPLE

120970 CONE-ROD DYSTROPHY 2; CORD2

123610 CRYSTALLIN, BETA-A1; CRYBA1

131560 FLOTILLIN 2; FLOT2

133239 ESOPHAGEAL CANCER

137142 GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-5; GABRA5

137800 GLIOMA SUSCEPTIBILITY 1; GLM1

138960 COLONY-STIMULATING FACTOR 2; CSF2

147470 INSULIN-LIKE GROWTH FACTOR II; IGF2

151100 LEOPARD SYNDROME 1

156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1

156491 NONMETASTATIC CELLS 2, PROTEIN EXPRESSED IN; NME2

158381 ECOTROPIC VIRAL INTEGRATION SITE 2B; EVI2B

159465 MYELIN-OLIGODENDROCYTE GLYCOPROTEIN; MOG

162030 NERVE GROWTH FACTOR, BETA SUBUNIT; NGFB

162200 NEUROFIBROMATOSIS, TYPE I; NF1

162210 NEUROFIBROMATOSIS, FAMILIAL SPINAL

162260 NEUROFIBROMATOSIS, TYPE III, MIXED CENTRAL AND PERIPHERAL; NF3A

163950 NOONAN SYNDROME 1; NS1

164345 OLIGODENDROCYTE-MYELIN GLYCOPROTEIN; OMG

164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT

176870 ALPHA-1 MICROGLOBULIN/BIKUNIN PRECURSOR; AMBP

176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11

190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS

190100 GENIOSPASM 1; GSM1

191092 TSC2 GENE; TSC2

193520 WATSON SYNDROME

210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II

211980 LUNG CANCER

224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; CDAN2

256700 NEUROBLASTOMA, SUSCEPTIBILITY TO

300191 TETRASPANIN 6; TSPAN6

600050 MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 11; MAP3K11

600064 KERATIN-ASSOCIATED PROTEIN 11-1; KRTAP11-1

600069 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B15; UGT2B15

600086 ALCOHOL DEHYDROGENASE 7; ADH7

600130 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE 1; APOBEC1

600185 BRCA2 GENE; BRCA2

600289 MITOGEN-ACTIVATED PROTEIN KINASE 14; MAPK14

600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6

600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF

601321 NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

601391 CHEMOKINE, CC MOTIF, LIGAND 13; CCL13

601392 CHEMOKINE, CC MOTIF, LIGAND 14; CCL14

601393 CHEMOKINE, CC MOTIF, LIGAND 15; CCL15

601394 CHEMOKINE, CC MOTIF, LIGAND 16; CCL16

601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1; CCL3L1

601817 NONMETASTATIC CELLS 3, PROTEIN EXPRESSED IN; NME3

601818 NONMETASTATIC CELLS 4, PROTEIN EXPRESSED IN; NME4

601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17

601963 TETRATRICOPEPTIDE REPEAT DOMAIN 1; TTC1

601964 DNAJ/HSP40 HOMOLOG, SUBFAMILY C, MEMBER 7; DNAJC7

602076 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 1;

602403 BLEOMYCIN HYDROLASE; BLMH

602582 DELTEX, DROSOPHILA, HOMOLOG OF, 1; DTX1

602644 TETRASPANIN 4; TSPAN4

603667 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ARALAR), MEMBER 12;

603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B

603962 RAS GUANYL NUCLEOTIDE-RELEASING PROTEIN 1; RASGRP1

604167 CCCTC-BINDING FACTOR; CTCF

605284 TSC1 GENE; TSC1

606221 IKAROS FAMILY ZINC FINGER 3; IKZF3

606245 SUPPRESSOR OF ZESTE 12, DROSOPHILA, HOMOLOG OF; SUZ12

606497 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B28; UGT2B28

607110 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B;

607113 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3G;

607379 NEUROFIBROMIN 2; NF2

607785 JUVENILE MYELOMONOCYTIC LEUKEMIA; JMML

608849 U2AF HOMOLOGY MOTIF KINASE 1; UHMK1

609534 CHROMOSOME 17 OPEN READING FRAME 41; C17ORF41

610091 WD REPEAT- AND SOCS BOX-CONTAINING PROTEIN 1; WSB1

610512 SEC23, S. CEREVISIAE, HOMOLOG OF, B; SEC23B

611358 RING FINGER PROTEIN 135; RNF135

611431 LEGIUS SYNDROME

611521 PROTEIN-TYROSINE KINASE 2 DEFICIENCY

612065 POLY(ADP-RIBOSE) POLYMERASE 9; PARP9

612659 REGULATORY FACTOR X, 6; RFX6

612949 HYPOMYELINATION, GLOBAL CEREBRAL

613114 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER B; FAM134B

613139 TETRASPANIN 13; TSPAN13

Clinical Synopsis for 128200 EPISODIC KINESIGENIC DYSKINESIA 1; EKD1

Clinical Synopsis for 142640 HISTIDINE-RICH GLYCOPROTEIN; HRG

Clinical Synopsis for 159001 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B

Clinical Synopsis for 161800 NEMALINE MYOPATHY 3; NEM3

Clinical Synopsis for 176870 ALPHA-1 MICROGLOBULIN/BIKUNIN PRECURSOR; AMBP

Clinical Synopsis for 270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

Clinical Synopsis for 611031 EPISODIC KINESIGENIC DYSKINESIA 2; EKD2

November 20, 2009

New Entries:

613128 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 1;

613129 CHROMOSOME 17 OPEN READING FRAME 68; C17ORF68

613130 CHROMOSOME 17 OPEN READING FRAME 106; C17ORF106

613131 MICRO RNA 449A; MIR449A

613132 MICRO RNA 449B; MIR449B

613133 TETRASPANIN 2; TSPAN2

613134 TETRASPANIN 3; TSPAN3

Changed Entries:

103700 ALCOHOL DEHYDROGENASE 1A, CLASS I, ALPHA POLYPEPTIDE; ADH1A

103710 ALCOHOL DEHYDROGENASE 5, CHI POLYPEPTIDE; ADH5

103720 ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE; ADH1B

103730 ALCOHOL DEHYDROGENASE 1C, GAMMA POLYPEPTIDE; ADH1C

103735 ALCOHOL DEHYDROGENASE 6; ADH6

103780 ALCOHOL DEPENDENCE

104750 SERUM AMYLOID A1; SAA1

124040 CYTOCHROME P450, SUBFAMILY IIE; CYP2E

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

165195 OPIOID RECEPTOR, DELTA-1; OPRD1

180500 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

193520 WATSON SYNDROME

601241 HISTONE DEACETYLASE 1; HDAC1

603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L

603881 NUCLEAR RECEPTOR SUBFAMILY 1, GROUP I, MEMBER 3; NR1I3

613128 OLIGONUCLEOTIDE/OLIGOSACCHARIDE-BINDING FOLD-CONTAINING PROTEIN 1;

613131 MICRO RNA 449A; MIR449A

November 19, 2009

New Entries:

613124 HYDROPS FETALIS, NONIMMUNE, WITH GRACILE BONES AND DYSMORPHIC FEATURES

613125 NUCLEAR RECEPTOR-INTERACTING PROTEIN 3; NRIP3

613126 PROLINE/SERINE-RICH COILED-COIL PROTEIN 1; PSRC1

613127 CHORDIN-LIKE 2; CHRDL2

Changed Entries:

101000 NEUROFIBROMATOSIS, TYPE II; NF2

107300 SERPIN PEPTIDASE INHIBITOR, CLADE C (ANTITHROMBIN), MEMBER 1; SERPINC1

121014 GAP JUNCTION PROTEIN, ALPHA-1; GJA1

131900 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED

142360 HEPARIN COFACTOR II; HCF2

148040 KERATIN 5; KRT5

231675 ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH

231680 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD

234100 HALLERMANN-STREIFF SYNDROME; HSS

256850 GIANT AXONAL NEUROPATHY 1; GAN1

300350 CHORDIN-LIKE 1; CHRDL1

601596 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C; CMT4C

603475 CHORDIN; CHRD

604712 RIBONUCLEOTIDE REDUCTASE, M2 B; RRM2B

605379 GAN GENE; GAN

605429 DEAFNESS, NONSYNDROMIC, MODIFIER 1; DFNM1

605764 TRAF- AND TNF RECEPTOR-ASSOCIATED PROTEIN; TTRAP

607798 TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1-LIKE; TAF1L

608206 SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2; SH3TC2

608526 PERIODONTITIS, AGGRESSIVE, 2

608699 BONE MORPHOGENETIC PROTEIN-BINDING ENDOTHELIAL CELL PRECURSOR-DERIVED

612075 MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH

612356 HEPARIN COFACTOR II DEFICIENCY

613118 ANTITHROMBIN III DEFICIENCY

Clinical Synopsis for 231200 BERNARD-SOULIER SYNDROME; BSS

November 18, 2009

New Entries:

613118 ANTITHROMBIN III DEFICIENCY

613123 BRUGADA SYNDROME 8

Clinical Synopsis for 612954 MYOPATHY, MYOFIBRILLAR, BAG3-RELATED

Changed Entries:

107300 SERPIN PEPTIDASE INHIBITOR, CLADE C (ANTITHROMBIN), MEMBER 1; SERPINC1

108500 EPISODIC ATAXIA, TYPE 2; EA2

116806 CATENIN, BETA-1; CTNNB1

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

124000 MITOCHONDRIAL COMPLEX III DEFICIENCY

134638 TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 6; TNFSF6

160120 EPISODIC ATAXIA, TYPE 1; EA1

163800 SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT; SSS2

164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1

176930 COAGULATION FACTOR II; F2

253601 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B

300523 ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

300653 PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

311800 PHOSPHOGLYCERATE KINASE 1; PGK1

600018 OPIOID RECEPTOR, MU-1; OPRM1

601144 BRUGADA SYNDROME 1

602523 DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM

602579 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B

602926 SYNTAXIN-BINDING PROTEIN 1; STXBP1

603009 DYSFERLIN; DYSF

603303 TRF1-INTERACTING, ANKYRIN-RELATED ADP-RIBOSE POLYMERASE; TNKS

603647 BCS1, S. CEREVISIAE, HOMOLOG-LIKE; BCS1L

603816 AXIS INHIBITOR 1; AXIN1

604261 AUTOPHAGY 5, S. CEREVISIAE, HOMOLOG OF; ATG5

604320 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1

605206 HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED POTASSIUM CHANNEL

607128 TRF1-INTERACTING ANKYRIN-RELATED ADP-RIBOSE POLYMERASE 2; TNKS2

608567 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE; SSS1

608760 AUTOPHAGY 7, S. CEREVISIAE, HOMOLOG OF; ATG7

610064 OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1

612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4

612309 COAGULATION FACTOR V; F5

612356 HEPARIN COFACTOR II DEFICIENCY

613101 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5

November 17, 2009

New Entries:

613122 CARDIOMYOPATHY, DILATED, 1CC; CMD1CC

Changed Entries:

114855 CARBOXYPEPTIDASE E; CPE

115200 CARDIOMYOPATHY, DILATED, 1A; CMD1A

117000 CENTRAL CORE DISEASE OF MUSCLE

136533 FORKHEAD BOX O1A; FOXO1A

147141 TRANSCRIPTION FACTOR 3; TCF3

164280 FEINGOLD SYNDROME

164500 SPINOCEREBELLAR ATAXIA 7; SCA7

164860 MET PROTOONCOGENE; MET

165190 FIBROBLAST GROWTH FACTOR 5; FGF5

169610 PEMPHIGUS VULGARIS, FAMILIAL

171300 PHEOCHROMOCYTOMA

190990 TROPOMYOSIN 2; TPM2

191030 TROPOMYOSIN 3; TPM3

231070 GERODERMA OSTEODYSPLASTICUM; GO

253200 MUCOPOLYSACCHARIDOSIS TYPE VI

255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA

601141 POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, BETA MEMBER

601614 NETRIN 1, MOUSE, HOMOLOG OF; NTN1

602366 INTEGRIN-LINKED KINASE; ILK

602890 KILLER CELL LECTIN-LIKE RECEPTOR, SUBFAMILY B, MEMBER 1; KLRB1

603574 METHYL-CpG-BINDING DOMAIN PROTEIN 4; MBD4

603796 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 2;

604619 LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; LGI1

605397 CD226 ANTIGEN; CD226

606210 SELENOPROTEIN N, 1; SEPN1

607542 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

608120 PARVIN, ALPHA; PARVA

608207 KALA-AZAR, SUSCEPTIBILITY TO, 1

608245 KERATIN 71; KRT71

608980 BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

609284 NEMALINE MYOPATHY 1; NEM1

609285 NEMALINE MYOPATHY 4; NEM4

609506 CYTOCHROME P450, SUBFAMILY XXVIIB, POLYPEPTIDE 1; CYP27B1

609541 SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY; SPOAN

610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2

610951 CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

613121 NEXILIN, RAT, HOMOLOG OF; NEXN

613122 CARDIOMYOPATHY, DILATED, 1CC; CMD1CC

Clinical Synopsis for 215400 CHORDOMA, SUSCEPTIBILITY TO; CHDM

November 17, 2009

New Entries:

613112 MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED

Changed Entries:

109150 MACHADO-JOSEPH DISEASE; MJD

113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF

118425 CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1

153670 BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANT

160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

191840 PLASMINOGEN ACTIVATOR, URINARY; PLAU

210250 SITOSTEROLEMIA

255320 MINICORE MYOPATHY

255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

270800 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE; SPG5A

300135 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7; ABCB7

300377 DYSTROPHIN; DMD

600536 INTEGRIN, ALPHA-7; ITGA7

601065 ALANYL-tRNA SYNTHETASE; AARS

603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE

603711 CYTOCHROME P450, FAMILY 7, SUBFAMILY B, POLYPEPTIDE 1; CYP7B1

603967 SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT; SCN4A

604407 LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1

605078 TAR DNA-BINDING PROTEIN; TARDBP

605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5

605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8

607047 ATAXIN 3; ATXN3

607130 REGULATORY ASSOCIATED PROTEIN OF MTOR; RPTOR

607928 WHIRLIN; WHRN

608390 MYOTONIA, POTASSIUM-AGGRAVATED

608938 RIBOSOMAL PROTEIN S6 KINASE, 70-KD, 1; RPS6KB1

609413 EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6

611409 OCA2 GENE

612901 TUBULIN, BETA-1; TUBB1

November 15, 2009

New Entries:

613110 BLADDER CANCER-ASSOCIATED PROTEIN; BLCAP

Changed Entries:

106490 ANNEXIN A3; ANXA3

121200 EPILEPSY, BENIGN NEONATAL, 1; EBN1

121210 FEBRILE CONVULSIONS, FAMILIAL, 1; FEB1

126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

253800 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD

308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1

600116 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; PARK2

601764 CONVULSIONS, BENIGN FAMILIAL INFANTILE, 1; BFIC1

602544 PARKIN; PARK2

603106 NEURONATIN; NNAT

603210 JERKY, MOUSE, HOMOLOG OF; JRK

603319 ANNEXIN A9; ANXA9

604233 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS; GEFS+

604277 SPG4 GENE; SPG4

605284 TSC1 GENE; TSC1

606439 SPG3A GENE; SPG3A

607208 SEVERE MYOCLONIC EPILEPSY OF INFANCY; SMEI

607440 FUKUTIN; FKTN

611588 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M; LGMD2M

November 12, 2009

New Entries:

613121 NEXILIN, RAT, HOMOLOG OF; NEXN

Changed Entries:

110300 ABO GLYCOSYLTRANSFERASE; ABO

111620 RADIN BLOOD GROUP ANTIGEN; RD

127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD

142640 HISTIDINE-RICH GLYCOPROTEIN; HRG

153670 BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANT

155255 MEDULLOBLASTOMA; MDB

161650 NEBULIN; NEB

164230 OBSESSIVE-COMPULSIVE DISORDER; OCD

176390 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1; PSG1

182389 SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT; SCN1A

185000 STOMATOCYTOSIS I

191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3

211100 FUCOSYLTRANSFERASE 1; FUT1

231200 BERNARD-SOULIER SYNDROME; BSS

238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME

252010 MITOCHONDRIAL COMPLEX I DEFICIENCY

256030 NEMALINE MYOPATHY 2; NEM2

260350 PANCREATIC CARCINOMA

300367 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA

301500 FABRY DISEASE

516000 COMPLEX I, SUBUNIT ND1; MTND1

601098 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C; CMT1C

603795 LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR; LITAF

603861 SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER),

604403 FEBRILE CONVULSIONS, FAMILIAL, 3A; FEB3A

605310 COILED-COIL ALPHA-HELICAL ROD PROTEIN 1; CCHCR1

605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1

605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2

606672 GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE; GP1BA

607834 NEUROTICISM

612434 CYSTEINE-RICH SECRETORY PROTEIN, LCCL DOMAIN-CONTAINING, 2; CRISPLD2

613104 CHROMOSOME 9 OPEN READING FRAME 7; C9ORF7

November 11, 2009

New Entries:

300807 THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT

613117 SMALL NUCLEOLAR RNA, C/D BOX, 50A; SNORD50A

613119 BRUGADA SYNDROME 6

613120 BRUGADA SYNDROME 7

Changed Entries:

114760 CARBONIC ANHYDRASE IV; CA4

114890 CARCINOEMBRYONIC ANTIGEN-RELATED CELL ADHESION MOLECULE 5; CEACAM5

137163 GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA; GABRD

164230 OBSESSIVE-COMPULSIVE DISORDER; OCD

165640 ORNITHINE DECARBOXYLASE 1; ODC1

168600 PARKINSON DISEASE; PD

176870 ALPHA-1 MICROGLOBULIN/BIKUNIN PRECURSOR; AMBP

176930 COAGULATION FACTOR II; F2

180069 RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD; RPE65

191092 TSC2 GENE; TSC2

191163 TUMOR NECROSIS FACTOR-ALPHA-INDUCED PROTEIN 3; TNFAIP3

235400 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

300377 DYSTROPHIN; DMD

300746 COAGULATION FACTOR IX; F9

300807 THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT

310200 MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD

312030 REMOVED FROM DATABASE

600011 EPHRIN RECEPTOR EphB4; EPHB4

600262 PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 2; PTGS2

600354 SURVIVAL OF MOTOR NEURON 1; SMN1

600527 EPHRIN B2; EFNB2

601144 BRUGADA SYNDROME 1

601411 SARCOGLYCAN, DELTA; SGCD

601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN

602253 KRUPPEL-LIKE FACTOR 4; KLF4

602260 PERIOD, DROSOPHILA, HOMOLOG OF; PER1

602394 NUCLEOLAR AND COILED-BODY PHOSPHOPROTEIN 1; NOLC1

603823 G PROTEIN-COUPLED RECEPTOR 43; GPR43

604433 POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3;

605353 GHRELIN; GHRL

606463 GLUCOSIDASE, BETA, ACID; GBA

608214 SODIUM CHANNEL, VOLTAGE-GATED, TYPE III, BETA SUBUNIT; SCN3B

608547 VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1

609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36

613010 RIBOFLAVIN KINASE; RFK

613116 THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY

Clinical Synopsis for 176390 PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1; PSG1

Clinical Synopsis for 312030 REMOVED FROM DATABASE

November 10, 2009

New Entries:

613115 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB; HSAN2B

613116 THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY

Clinical Synopsis for 613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3

Changed Entries:

114217 CALNEXIN; CANX

118507 CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2; CHRNB2

123590 CRYSTALLIN, ALPHA-B; CRYAB

134797 FIBRILLIN 1; FBN1

137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP

138120 HEAT-SHOCK 70-KD PROTEIN 5; HSPA5

142640 HISTIDINE-RICH GLYCOPROTEIN; HRG

143100 HUNTINGTON DISEASE; HD

146110 HYPOGONADOTROPIC HYPOGONADISM

147270 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1; ITIH1

176790 PROCOLLAGEN-PROLINE, 2-OXOGLUTARATE-4-DIOXYGENASE, BETA SUBUNIT; P4HB

176870 ALPHA-1 MICROGLOBULIN/BIKUNIN PRECURSOR; AMBP

188050 THROMBOPHILIA

188055 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE

201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A

203450 ALEXANDER DISEASE

211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1

215400 CHORDOMA, SUSCEPTIBILITY TO; CHDM

254110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H; LGMD2H

600018 OPIOID RECEPTOR, MU-1; OPRM1

600947 HUNTINGTIN-ASSOCIATED PROTEIN 1; HAP1

601023 VALOSIN-CONTAINING PROTEIN; VCP

601241 HISTONE DEACETYLASE 1; HDAC1

601397 T BRACHYURY, MOUSE, HOMOLOG OF; T

601576 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, SIGMA; PTPRS

601725 NEUROGENIC DIFFERENTIATION 2; NEUROD2

601933 CRYPTOCHROME 1; CRY1

602290 TRIPARTITE MOTIF-CONTAINING PROTEIN 32; TRIM32

602329 SUPPRESSOR OF LIN12-LIKE; SEL1L

602434 ANCIENT UBIQUITOUS PROTEIN 1; AUP1

602739 PROTEIN KINASE, AMP-ACTIVATED, CATALYTIC, ALPHA-1; PRKAA1

603618 CELL DIVISION CYCLE 20, S. CEREVISIAE, HOMOLOG OF; CDC20

604327 XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE, POLYPEPTIDE 7; B4GALT7

604509 INTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP

605164 HISTONE DEACETYLASE 2; HDAC2

605375 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3

606223 PROTEASOME 26S SUBUNIT, NON-ATPASE, 2; PSMD2

606829 FRATAXIN; FXN

607092 SPHINGOSINE KINASE 2; SPHK2

607733 SCRIBBLE, DROSOPHILA, HOMOLOG OF; SCRIB

608012 PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 2; PDIA2

608046 SYNOVIAL APOPTOSIS INHIBITOR 1; SYVN1

608473 ANAPHASE-PROMOTING COMPLEX, SUBUNIT 1; ANAPC1

608815 EF-HAND DOMAIN (C-TERMINAL)-CONTAINING 1; EFHC1

609677 AMPLIFIED IN OSTEOSARCOMA 9

610304 DER1-LIKE DOMAIN FAMILY, MEMBER 2; DERL2

612006 CELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8

613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3

613114 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER B; FAM134B

Clinical Synopsis for 158300 TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Clinical Synopsis for 166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2; OPTA2

Clinical Synopsis for 211400 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1

Clinical Synopsis for 214800 CHARGE SYNDROME

Clinical Synopsis for 607872 CHROMOSOME 1p36 DELETION SYNDROME

Clinical Synopsis for 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2

November 9, 2009

New Entries:

300808 G PROTEIN-COUPLED RECEPTOR 143; GPR143

613096 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT; SPG36

Clinical Synopsis for 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2

Changed Entries:

118800 PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1

136470 FOLLISTATIN; FST

145701 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1

146640 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 2; ITIH2

146650 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 3; ITIH3

147270 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1; ITIH1

147796 JANUS KINASE 2; JAK2

156845 MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MITF

174500 POLYDACTYLY, PREAXIAL II; PPD2

176705 PROHIBITIN; PHB

182600 SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL

300196 TRANSDUCIN-BETA-LIKE 1, X-LINKED; TBL1X

300265 ZINC FINGER PROTEIN OF CEREBELLUM, 3; ZIC3

300500 ALBINISM, OCULAR, TYPE I; OA1

300808 G PROTEIN-COUPLED RECEPTOR 143; GPR143

308700 KALLMANN SYNDROME 1; KAL1

600354 SURVIVAL OF MOTOR NEURON 1; SMN1

600564 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 4; ITIH4

600644 POLIOVIRUS RECEPTOR-LIKE 1; PVRL1

600761 SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT; SCNN1G

601128 H3 HISTONE, FAMILY 3A; H3F3A

601395 CHEMOKINE, CC MOTIF, LIGAND 3-LIKE 1; CCL3L1

601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2

601631 IRIDOGONIODYSGENESIS, TYPE 1; IRID1

601674 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 1; EZH1

601739 MEIS1, MOUSE, HOMOLOG OF, 1; MEIS1

602482 AXENFELD-RIEGER SYNDROME, TYPE 3; RIEG3

602820 HISTONE 3, H3; HIST3H3

604386 ZINC FINGER TRANSCRIPTION FACTOR TRPS1; TRPS1

604478 CHROMOBOX HOMOLOG 5; CBX5

605984 EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF; EED

606933 TYROSINASE; TYR

609007 LEUCINE-RICH REPEAT KINASE 2; LRRK2

609023 MYOFIBRILLOGENESIS REGULATOR 1

609297 SEMAPHORIN 5A; SEMA5A

609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1

609656 BONE SIZE QUANTITATIVE TRAIT LOCUS 1

609657 BONE SIZE QUANTITATIVE TRAIT LOCUS 2

609783 INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 5; ITIH5

610649 BONE SIZE QUANTITATIVE TRAIT LOCUS 3

612348 THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN

612374 TRANSMEMBRANE PROTEIN 173; TMEM173

612853 RESTLESS LEGS SYNDROME, SUSCEPTIBILITY TO, 7

613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2

613071 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3; BESC3

Clinical Synopsis for 613021 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2

November 6, 2009

New Entries:

613114 FAMILY WITH SEQUENCE SIMILARITY 134, MEMBER B; FAM134B

Changed Entries:

130070 EHLERS-DANLOS SYNDROME, PROGEROID FORM

146500 MULTIPLE SYSTEM ATROPHY; MSA

157170 HOLOPROSENCEPHALY 2; HPE2

163890 SYNUCLEIN, ALPHA; SNCA

176882 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, BETA; PTPRB

176884 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, ALPHA; PTPRA

190070 V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG; KRAS

192090 CADHERIN 1; CDH1

236750 HYDROPS FETALIS, NONIMMUNE; NIHF

247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS

248600 MAPLE SYRUP URINE DISEASE

256540 GALACTOSIALIDOSIS; GSL

271510 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE

274400 THYROID DYSHORMONOGENESIS 1; TDH1

275200 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

300005 METHYL-CpG-BINDING PROTEIN 2; MECP2

300203 CYCLIN-DEPENDENT KINASE-LIKE 5; CDKL5

300376 MUSCULAR DYSTROPHY, BECKER TYPE; BMD

300401 PROTEOLIPID PROTEIN 1; PLP1

300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2

309900 MUCOPOLYSACCHARIDOSIS TYPE II

312080 PELIZAEUS-MERZBACHER DISEASE; PMD

312750 RETT SYNDROME; RTT

600926 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, EPSILON; PTPRE

601296 MUSCLE, SKELETAL, RECEPTOR TYROSINE KINASE; MUSK

601598 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, DELTA; PTPRD

601665 OBESITY

602501 MACROCEPHALY-CAPILLARY MALFORMATION; M-CM

603387 MEGALANECEPHALY POLYMICROGYRIA-POLYDACTYLY HYDROCEPHALUS SYNDROME;

603714 SINE OCULIS HOMEOBOX, DROSOPHILA, HOMOLOG OF, 3; SIX3

604327 XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE, POLYPEPTIDE 7; B4GALT7

606075 CHROMOSOME 10 OPEN READING FRAME 2; C10ORF2

607014 HURLER SYNDROME

608348 BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE; BCKDHA

608716 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 5; MCPH5

609286 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

609942 NOONAN SYNDROME 3

November 5, 2009

New Entries:

613106 VERTIGO, BENIGN RECURRENT, 2; BRV2

Changed Entries:

112263 BONE MORPHOGENETIC PROTEIN 3; BMP3

112266 BONE MORPHOGENETIC PROTEIN 6; BMP6

114480 BREAST CANCER

115430 CARPAL TUNNEL SYNDROME; CTS1

117210 SPINOCEREBELLAR ATAXIA 31; SCA31

118950 CITRATE SYNTHASE, MITOCHONDRIAL; CS

122600 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL DOMINANT; SCOD4

123740 CRYSTALLIN, MU; CRYM

123841 PEPTIDYL-PROLYL ISOMERASE B; PPIB

129600 ECTOPIA LENTIS, ISOLATED

131705 TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN; TBDN

134797 FIBRILLIN 1; FBN1

136760 FRONTONASAL DYSPLASIA

137800 GLIOMA SUSCEPTIBILITY 1; GLM1

145250 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE

147582 IRON-RESPONSIVE ELEMENT-BINDING PROTEIN 2; IREB2

150210 LACTOTRANSFERRIN; LTF

150330 LAMIN A/C; LMNA

155255 MEDULLOBLASTOMA; MDB

161550 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 2

167320 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL

173350 PLASMINOGEN; PLG

176300 TRANSTHYRETIN; TTR

180849 RUBINSTEIN-TAYBI SYNDROME; RSTS

181590 SCL/TAL1-INTERRUPTING LOCUS; STIL

188450 THYROGLOBULIN; TG

193007 VERTIGO, BENIGN RECURRENT; BRV

223360 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL

248510 MANNOSIDOSIS, BETA A, LYSOSOMAL

251260 NIJMEGEN BREAKAGE SYNDROME

254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL

254770 EPILEPSY, MYOCLONIC JUVENILE; EJM

256730 CEROID LIPOFUSCINOSIS, NEURONAL, 1; CLN1

258315 OMODYSPLASIA 1; OMOD1

259440 OSTEOGENESIS IMPERFECTA, TYPE IX

263510 SHORT RIB-POLYDACTYLY SYNDROME, TYPE III

272750 GM2-GANGLIOSIDOSIS, AB VARIANT

275000 GRAVES DISEASE

300798 PHOSPHORYLASE KINASE, LIVER, ALPHA-2 SUBUNIT; PHKA2

300804 JOUBERT SYNDROME 10; JBTS10

600379 MYELIN TRANSCRIPTION FACTOR 1; MYT1

600722 PALMITOYL-PROTEIN THIOESTERASE 1; PPT1

601001 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE

601023 VALOSIN-CONTAINING PROTEIN; VCP

601285 DELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGION

601349 MICROPHTHALMIA, SYNDROMIC 8; MCOPS8

601353 BRACHYCEPHALY, DEAFNESS, CATARACT, MICROSTOMIA, AND MENTAL RETARDATION

601693 UNCOUPLING PROTEIN 2; UCP2

602195 HEAT-SHOCK 27-KD PROTEIN 1; HSPB1

602206 RAS-ASSOCIATED PROTEIN RAB17; RAB17

602270 ANTIOXIDANT PROTEIN 1; ATOX1

602343 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 1;

602667 NIBRIN; NBN

602700 E1A-BINDING PROTEIN, 300-KD; EP300

603137 CULLIN 4A; CUL4A

605250 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 4; ABCC4

605462 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1; BCC1

606070 MYOPATHY, DISTAL 2; MPD2

606219 TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PROTEIN 1; TRAP1

606232 CHROMOSOME 22q13.3 DELETION SYNDROME

606352 ALSIN

607596 PONTOCEREBELLAR HYPOPLASIA TYPE 1

607606 KERATIN 9; KRT9

607901 FERMITIN FAMILY (DROSOPHILA) HOMOLOG 3; FERMT3

608010 NPC1-LIKE 1; NPC1L1

608045 REPRESSOR OF TELOMERASE EXPRESSION 1

608120 PARVIN, ALPHA; PARVA

608121 PARVIN, BETA; PARVB

608122 PARVIN, GAMMA; PARVG

608363 CHROMOSOME 22q11.2 MICRODUPLICATION SYNDROME

608636 CHROMOSOME 15q11-q13 DUPLICATION SYNDROME

608863 PODOPLANIN; PDPN

609489 MANNOSIDASE, BETA A, LYSOSOMAL; MANBA

609746 RHO GTPase-ACTIVATING PROTEIN 10; ARHGAP10

610575 R-SPONDIN FAMILY, MEMBER 2; RSPO2

612132 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL

612473 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4

612775 CONE-ROD DYSTROPHY 9; CORD9

612906 RAS-ASSOCIATED PROTEIN RAB32; RAB32

613029 GLIOMA SUSCEPTIBILITY 3; GLM3

613077 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,

613085 GLAUCOMA 3, PRIMARY CONGENITAL, C; GLC3C

613086 GLAUCOMA 3, PRIMARY CONGENITAL, D; GLC3D

613087 ATRIAL SEPTAL DEFECT 6; ASD6

613088 PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2

613090 BARTTER SYNDROME, TYPE 4B

613091 ASPHYXIATING THORACIC DYSTROPHY 3; ATD3

613092 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2; HNFJ2

613093 CONE DYSTROPHY 4; COD4

613094 MICROPHTHALMIA, ISOLATED 4; MCOP4

613095 POLYCYSTIC KIDNEY DISEASE 2; PKD2

613097 TOOTH AGENESIS, SELECTIVE, 6; STHAG6

613098 INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC

613100 GLAUCOMA 1, OPEN ANGLE, O; GLC1O

613106 VERTIGO, BENIGN RECURRENT, 2; BRV2

613109 GM2 ACTIVATOR; GM2A

613111 CATHEPSIN A; CTSA

November 4, 2009

New Entries:

613109 GM2 ACTIVATOR; GM2A

613111 CATHEPSIN A; CTSA

Clinical Synopsis for 612951 LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY

Changed Entries:

112266 BONE MORPHOGENETIC PROTEIN 6; BMP6

117300 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2

121011 GAP JUNCTION PROTEIN, BETA-2; GJB2

131290 ENGRAILED 1; EN1

143100 HUNTINGTON DISEASE; HD

162280 NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE; NEFL

164300 OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

164761 REARRANGED DURING TRANSFECTION PROTOONCOGENE; RET

230710 MOVED TO 272800

256540 GALACTOSIALIDOSIS; GSL

268800 SANDHOFF DISEASE

272750 GM2-GANGLIOSIDOSIS, AB VARIANT

272800 TAY-SACHS DISEASE; TSD

300473 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 1; NR0B1

312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

600502 IMMUNOGLOBULIN MU-BINDING PROTEIN 2; IGHMBP2

601090 FORKHEAD BOX C1; FOXC1

601624 FICOLIN 2; FCN2

602402 FORKHEAD BOX C2; FOXC2

604070 DIACYLGLYCEROL KINASE, BETA, 90-KD; DGKB

604630 NUCLEAR RECEPTOR SUBFAMILY 0, GROUP B, MEMBER 2; NR0B2

604641 MITOGEN-ACTIVATED PROTEIN KINASE 8-INTERACTING PROTEIN 1; MAPK8IP1

605057 TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 17, YEAST, HOMOLOG OF,

606869 HEXOSAMINIDASE A; HEXA

606873 HEXOSAMINIDASE B; HEXB

608272 NEURAMINIDASE 1; NEU1

608400 USH2A GENE; USH2A

609580 NINEIN-LIKE PROTEIN; NINL

611408 LCA5 GENE; LCA5

611458 GALACTOSIDASE, BETA-1; GLB1

611481 UFM1-SPECIFIC PEPTIDASE 1; UFSP1

613004 HUNTINGTIN; HTT

613111 CATHEPSIN A; CTSA

Clinical Synopsis for 178500 PULMONARY FIBROSIS, IDIOPATHIC

Clinical Synopsis for 301500 FABRY DISEASE

Clinical Synopsis for 312610 RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR

November 3, 2009

New Entries:

Clinical Synopsis for 613090 BARTTER SYNDROME, TYPE 4B

Changed Entries:

117210 SPINOCEREBELLAR ATAXIA 31; SCA31

137167 GAMMA-GLUTAMYL CARBOXYLASE; GGCX

147450 SUPEROXIDE DISMUTASE 1; SOD1

157140 MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT

180071 PHOSPHODIESTERASE 6A, cGMP-SPECIFIC, ROD, ALPHA; PDE6A

184705 STEINFELD SYNDROME

188250 THYMIDINE KINASE, MITOCHONDRIAL; TK2

191092 TSC2 GENE; TSC2

230700 MOVED TO 272800

230710 MOVED TO 272750

300031 FAMILY WITH SEQUENCE SIMILARITY 11, MEMBER A; FAM11A

300104 GDP DISSOCIATION INHIBITOR 1; GDI1

300483 MOVED TO 300031

309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

309550 FMR1 GENE; FMR1

601545 PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE, ISOFORM 1B, ALPHA SUBUNIT;

601837 LIGASE IV, DNA, ATP-DEPENDENT; LIG4

602424 DOUBLESEX- AND MAB3-RELATED TRANSCRIPTION FACTOR 1; DMRT1

603234 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 6; ABCC6

605284 TSC1 GENE; TSC1

607123 PROKINETICIN RECEPTOR 2; PROKR2

607854 BESTROPHIN 1; BEST1

609449 NUDE, A. NIDULANS, HOMOLOG OF, 1; NDE1

609526 PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4;

609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

609669 WD REPEAT-CONTAINING PROTEIN 36; WDR36

610454 LEUCINE ZIPPER, PUTATIVE TUMOR SUPPRESSOR 2; LZTS2

613090 BARTTER SYNDROME, TYPE 4B

Clinical Synopsis for 230700 MOVED TO 272800

Clinical Synopsis for 230710 MOVED TO 272750

November 2, 2009

New Entries:

300806 FMR2 GENE; FMR2

613108 CANDIDIASIS, FAMILIAL, 4; CANDF4

Clinical Synopsis for 612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4; EDMD4

Clinical Synopsis for 612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5; EDMD5

Clinical Synopsis for 613026 CHROMOSOME 19q13.11 DELETION SYNDROME

Changed Entries:

109740 BIFID NOSE, AUTOSOMAL DOMINANT

114580 CANDIDIASIS, FAMILIAL, 1; CANDF1

134934 FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3

137960 MPV17, MOUSE, HOMOLOG OF; MPV17

155600 MELANOMA, CUTANEOUS MALIGNANT; CMM

155601 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2

161561 INTERLEUKIN 12B; IL12B

176876 PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11; PTPN11

191400 ULNA AND FIBULA, HYPOPLASIA OF

210400 BIFID NOSE, AUTOSOMAL RECESSIVE

212050 CANDIDIASIS, FAMILIAL, 2; CANDF2

228200 FEMUR-FIBULA-ULNA SYNDROME

229300 FRIEDREICH ATAXIA 1; FRDA

230700 MOVED TO 272800

230710 MOVED TO 272750

251880 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM, AUTOSOMAL

272750 TAY-SACHS DISEASE, AB VARIANT

272800 TAY-SACHS DISEASE; TSD

300624 FRAGILE X MENTAL RETARDATION SYNDROME

309548 MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

313700 ANDROGEN RECEPTOR; AR

314360 ULNAR HYPOPLASIA WITH LOBSTER-CLAW DEFORMITY OF FEET

602849 MUENKE SYNDROME

604214 KREV INTERACTION TRAPPED 1; KRIT1

606264 C-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A

606415 MOVED TO 114580

607212 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 9; CARD9

607644 CANDIDIASIS, FAMILIAL, 4; CANDF4

607929 CCM2 GENE; CCM2

608847 FERRITIN, MITOCHONDRIAL; FTMT

611162 MALARIA, SUSCEPTIBILITY TO

613108 CANDIDIASIS, FAMILIAL, 4; CANDF4

Clinical Synopsis for 118100 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT

Clinical Synopsis for 127300 LERI-WEILL DYSCHONDROSTEOSIS; LWD

Clinical Synopsis for 157170 HOLOPROSENCEPHALY 2; HPE2

Clinical Synopsis for 249700 LANGER MESOMELIC DYSPLASIA

Clinical Synopsis for 251290 PSEUDO-TORCH SYNDROME

Clinical Synopsis for 300067 LISSENCEPHALY, X-LINKED, 1; LISX1

Clinical Synopsis for 302950 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Clinical Synopsis for 609634 MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3

Clinical Synopsis for 612998 EMERY-DREIFUSS MUSCULAR DYSTROPHY 4; EDMD4

Clinical Synopsis for 612999 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5; EDMD5