OMIM Update List for December, 2008

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Nucleotide

Protein

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OMIM Update List for December, 2008

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December 31, 2008
New Entries:: 612514 SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4; 612515 CHROMOSOME 2 OPEN READING FRAME 37; C2ORF37; Clinical Synopsis for 612438 LEUKODYSTROPHY, HYPOMYELINATING, 6
Changed Entries:: 140000 HAND-FOOT-UTERUS SYNDROME; 145410 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT; 146255 HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE; MLL; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 179605 PERIPHERIN 2, MOUSE, HOMOLOG OF; PRPH2; 184429 SRY-BOX 2; SOX2; 190080 V-MYC AVIAN MYELOCYTOMATOSIS VIRAL ONCOGENE HOMOLOG; MYC; 600594 DIGEORGE SYNDROME CRITICAL REGION GENE 2; DGCR2; 602253 KRUPPEL-LIKE FACTOR 4; KLF4; 604569 CONTACTIN-ASSOCIATED PROTEIN-LIKE 2; CNTNAP2; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605317 FORKHEAD BOX P2; FOXP2; 605627 CEREBROOCULONASAL SYNDROME; 606712 SPECIFIC LANGUAGE IMPAIRMENT 2; SLI2; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 608554 NEURONAL PAS DOMAIN PROTEIN 4; NPAS4; 610108 ANOCTAMIN 1, CALCIUM-ACTIVATED CHLORIDE; ANO1; 611809 BESTROPHINOPATHY; ARB; 612514 SPECIFIC LANGUAGE IMPAIRMENT 4; SLI4; Clinical Synopsis for 139090 GRAY PLATELET SYNDROME; GPS; Clinical Synopsis for 611131 RETINITIS PIGMENTOSA 37

December 30, 2008
New Entries:: 612445 SCOLIOSIS, ARACHNODACTYLY, AND BLINDNESS; 612511 MICRO RNA 101-1; MIRN101-1; 612512 MICRO RNA 101-2; MIRN101-2; Clinical Synopsis for 610443 CHROMOSOME 17q21.31 MICRODELETION SYNDROME; Clinical Synopsis for 610954 PITT-HOPKINS SYNDROME; PTHS; Clinical Synopsis for 611961 STEVENSON-CAREY SYNDROME; Clinical Synopsis for 612437 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B; Clinical Synopsis for 612443 LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT; Clinical Synopsis for 612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C; Clinical Synopsis for 612463 PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP
Changed Entries:: 102770 ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1; 102771 ADENOSINE MONOPHOSPHATE DEAMINASE 2; AMPD2; 102772 ADENOSINE MONOPHOSPHATE DEAMINASE 3; AMPD3; 107720 APOLIPOPROTEIN C-III; APOC3; 109690 BETA-2-ADRENERGIC RECEPTOR; ADRB2; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 135100 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP; 142790 CD74 ANTIGEN; CD74; 154700 MARFAN SYNDROME; MFS; 155540 MELANOCORTIN 3 RECEPTOR; MC3R; 180201 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4A; ARID4A; 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; 223370 DUBOWITZ SYNDROME; 243060 MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA; 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6; 300561 SLIT- AND NTRK-LIKE FAMILY, MEMBER 2; SLITRK2; 300562 SLIT- AND NTRK-LIKE FAMILY, MEMBER 4; SLITRK4; 300566 LHFP-LIKE PROTEIN 1; LHFPL1; 300712 CRANIOFACIOSKELETAL SYNDROME; 600272 COILIN; COIL; 600970 MYOSIN VI; MYO6; 601007 LEPTIN RECEPTOR; LEPR; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 601665 OBESITY; 602025 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9; BMIQ9; 602272 TRANSCRIPTION FACTOR 4; TCF4; 603495 AURORA KINASE C; AURKC; 604420 HEMATOPOIETICALLY EXPRESSED HOMEOBOX; HHEX; 604531 NATURAL CYTOTOXICITY TRIGGERING RECEPTOR 2; NCR2; 604599 EUCHROMATIC HISTONE-LYSINE N-METHYLTRANSFERASE 2; EHMT2; 604842 SOLUTE CARRIER FAMILY 22 (EXTRANEURONAL MONOAMINE TRANSPORTER), MEMBER; 604893 ANTISENSE IGF2R; 605003 SENTRIN-SPECIFIC PROTEASE FAMILY, MEMBER 6; SENP6; 605085 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS 1; TREM1; 605353 GHRELIN; GHRL; 605469 JUMONJI DOMAIN-CONTAINING PROTEIN 2C; JMJD2C; 606346 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22; 607761 KIN OF IRRE-LIKE 3; KIRREL3; 607807 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 13; 607810 RADICAL S-ADENOSYL METHIONINE DOMAIN-CONTAINING PROTEIN 2; RSAD2; 607811 p21-ACTIVATED KINASE- AND PHOSPHOLIPASE C-INTERACTING PROTEIN 1; 607815 ANKYRIN REPEAT AND STERILE ALPHA MOTIF DOMAIN-CONTAINING PROTEIN 1B;; 607816 POLYCOMB GROUP RING FINGER PROTEIN 6; PCGF6; 607819 SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 5; SLC30A5; 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8; 609667 T-CELL ACTIVATION GTPase-ACTIVATING PROTEIN; TAGAP; 609668 T-CELL ACTIVATION PROTEIN PHOSPHATASE 2C; 609672 EXOCYST COMPLEX COMPONENT 6; EXOC6; 609673 PLATELET-DERIVED GROWTH FACTOR D; PDGFD; 609674 ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 1; ESCO1; 609675 SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1; SOSTDC1; 609676 VIRUS-INDUCED SIGNALING ADAPTOR; 609677 AMPLIFIED IN OSTEOSARCOMA 9; 609679 SLIT- AND NTRK-LIKE FAMILY, MEMBER 3; SLITRK3; 609680 SLIT- AND NTRK-LIKE FAMILY, MEMBER 5; SLITRK5; 609681 SLIT- AND NTRK-LIKE FAMILY, MEMBER 6; SLITRK6; 609682 DNA CROSS-LINK REPAIR PROTEIN 1A; DCLRE1A; 609683 DNA CROSS-LINK REPAIR PROTEIN 1B; DCLRE1B; 609685 CELL DIVISION CYCLE-ASSOCIATED PROTEIN 7-LIKE; CDCA7L; 609689 CENTROSOMAL PROTEIN 2; CEP2; 609691 FORMIN HOMOLOGY-2 DOMAIN-CONTAINING PROTEIN 3; FHOD3; 609696 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 4B; ARID4B; 609697 SIN3A-ASSOCIATED PROTEIN, 130-KD; 609699 MONOGLYCERIDE LIPASE; MGLL; 609700 RAB GUANINE NUCLEOTIDE EXCHANGE FACTOR 1; RABGEF1; 609707 DIHYDROURIDINE SYNTHASE 2-LIKE; DUS2L; 609714 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 1; TREML1; 609715 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 2; TREML2; 609716 TRIGGERING RECEPTOR EXPRESSED ON MYELOID CELLS-LIKE PROTEIN 3; TREML3; 609718 LHFP-LIKE PROTEIN 2; LHFPL2; 609719 LHFP-LIKE PROTEIN 3; LHFPL3; 609722 PDZ AND LIM DOMAIN PROTEIN 2; PDLIM2; 609723 YIPPEE-LIKE 2; YPEL2; 609724 YIPPEE-LIKE 3; YPEL3; 609725 YIPPEE-LIKE 4; YPEL4; 609726 YIPPEE-LIKE 5; YPEL5; 609729 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 3; PDZRN3; 609730 PDZ DOMAIN-CONTAINING RING FINGER PROTEIN 4; PDZRN4; 609732 LIGAND OF NUMB PROTEIN X1; LNX1; 609733 LIGAND OF NUMB PROTEIN X2; LNX2; 609736 COILED-COIL DOMAIN-CONTAINING PROTEIN 88A; CCDC88A; 609739 IMMUNOGLOBULIN-LIKE DOMAIN-CONTAINING RECEPTOR 1; ILDR1; 609742 INTERLEUKIN 4-INDUCED GENE 1; IL4I1; 609743 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4B; IGSF4B; 609744 IMMUNOGLOBULIN SUPERFAMILY, MEMBER 4C; IGSF4C; 609764 JUMONJI DOMAIN-CONTAINING PROTEIN 2A; JMJD2A; 609765 JUMONJI DOMAIN-CONTAINING PROTEIN 2B; JMJD2B; 609766 JUMONJI DOMAIN-CONTAINING PROTEIN 2D; JMJD2D; 609768 BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 2; BLOC1S2; 610332 OCULOOTOFACIAL DYSPLASIA; 610954 PITT-HOPKINS SYNDROME; PTHS; 611961 STEVENSON-CAREY SYNDROME; Clinical Synopsis for 238970 HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME; Clinical Synopsis for 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6; Clinical Synopsis for 300436 MENTAL RETARDATION, X-LINKED 46; MRX46; Clinical Synopsis for 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B; Clinical Synopsis for 612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C

December 29, 2008
Changed Entries:: 142959 HOMEOBOX A13; HOXA13; 176305 PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS; 184429 SRY-BOX 2; SOX2; 206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3; 219100 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I; 227320 FACIOTHORACOGENITAL SYNDROME; 236700 MCKUSICK-KAUFMAN SYNDROME; MKKS; 248370 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA; 254940 MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN; 313700 ANDROGEN RECEPTOR; AR; 600112 DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1; 601486 DELETED IN AZOOSPERMIA-LIKE; DAZL; 601573 ENHANCER OF ZESTE, DROSOPHILA, HOMOLOG 2; EZH2; 604672 CD209 ANTIGEN; CD209; 606822 PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE; POMGNT1; 607810 RADICAL S-ADENOSYL METHIONINE DOMAIN-CONTAINING PROTEIN 2; RSAD2; 607816 POLYCOMB GROUP RING FINGER PROTEIN 6; PCGF6; 609672 EXOCYST COMPLEX COMPONENT 6; EXOC6; 609723 YIPPEE-LIKE 2; YPEL2; 611961 STEVENSON-CAREY SYNDROME; Clinical Synopsis for 210720 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II; Clinical Synopsis for 266920 RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY, CEREBELLAR ATAXIA,; Clinical Synopsis for 300558 MENTAL RETARDATION, X-LINKED 30; MRX30; Clinical Synopsis for 305450 OPITZ-KAVEGGIA SYNDROME; OKS

December 28, 2008
Changed Entries:: Clinical Synopsis for 300267 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 6; ARHGEF6

December 24, 2008
Changed Entries:: 137170 GAMMA-GLUTAMYL CYCLOTRANSFERASE; GGCT; 194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION; 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 600522 PHOSPHOLIPASE A2, GROUP IVA; PLA2G4A; 601144 BRUGADA SYNDROME 1; 601665 OBESITY; 603830 LONG QT SYNDROME 3; LQT3; 604266 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 6; MEGF6; 604267 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 8; MEGF8; 604268 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 9; MEGF9; 607786 PROPROTEIN CONVERTASE, SUBTILISIN/KEXIN-TYPE, 9; PCSK9; 607983 SCYL1-BINDING PROTEIN 1; SCYL1BP1; 610312 PIWI-LIKE 2: PIWIL2; 612359 COWDEN-LIKE SYNDROME; 612416 FACTOR XI DEFICIENCY; 612422 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3; RCM3; 612426 CHROMOSOME 16 OPEN READING FRAME 75; C16ORF75; 612427 RNA-BINDING MOTIF PROTEIN 25; RBM25; 612428 RNA-BINDING MOTIF PROTEIN 38; RBM38; 612443 LEUKODYSTROPHY, DYSMYELINATING, AND SPASTIC PARAPARESIS WITH OR WITHOUT; 612448 AGE-RELATED HEARING IMPAIRMENT 1; ARHI1; 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14; 612469 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION,; 612490 RING FINGER PROTEIN 181; RNF181; 612491 APAF1-INTERACTING PROTEIN; APIP; 612492 UBIQUITIN-SPECIFIC PROTEASE 30; USP30; 612493 CANOPY 1, ZEBRAFISH, HOMOLOG OF; CNPY1; 612494 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10-LIKE PROTEIN; ARHGEF10L; 612495 UBIQUITIN-CONJUGATING ENZYME E2C-BINDING PROTEIN; UBE2CBP; 612496 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19; 612497 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1; 612498 ADENYLOSUCCINATE SYNTHASE-LIKE 1; ADSSL1; 612499 DIMETHYLADENOSINE TRANSFERASE 1-LIKE; DIMT1L; 612500 DEAD BOX POLYPEPTIDE 52; DDX52; 612502 COLLECTIN 11; COLEC11; 612503 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5; 612504 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 6; ABCA6; 612505 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 8; ABCA8; Clinical Synopsis for 103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

December 23, 2008
New Entries:: 612501 UBIQUITIN-CONJUGATING ENZYME E2Q 2; UBE2Q2; 612506 UBIQUITIN-CONJUGATING ENZYME E2R 2; UBE2R2; 612507 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 9; ABCA9; 612508 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 10; ABCA10; 612509 ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 10; ABCC10; 612510 ATP-BINDING CASSETTE, SUBFAMILY F, MEMBER 2; ABCF2
Changed Entries:: 102680 ADDUCIN 1; ADD1; 116948 CELL DIVISION CYCLE 34, S. CEREVISIAE, HOMOLOG OF; CDC34; 147620 INTERLEUKIN 6; IL6; 163890 SYNUCLEIN, ALPHA; SNCA; 165390 RAS HOMOLOG GENE FAMILY, MEMBER A; RHOA; 188855 GRANULYSIN; GNLY; 193220 VITREORETINOCHOROIDOPATHY; VRCP; 264900 COAGULATION FACTOR XI; F11; 601158 MITOGEN-ACTIVATED PROTEIN KINASE 8; MAPK8; 604176 SUPPRESSOR OF CYTOKINE SIGNALING 3; SOCS3; 604980 GTPase-ACTIVATING PROTEIN, RAC, 1; RACGAP1; 605064 KINESIN FAMILY MEMBER 23; KIF23; 607854 BESTROPHIN 1; BEST1; 608335 CASEIN KINASE II-INTERACTING PROTEIN 1; 608420 PANNEXIN 1; PANX1; 608579 SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO; 612503 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5; 612504 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 6; ABCA6; Clinical Synopsis for 264900 COAGULATION FACTOR XI; F11

December 22, 2008
New Entries:: 612490 RING FINGER PROTEIN 181; RNF181; 612491 APAF1-INTERACTING PROTEIN; APIP; 612492 UBIQUITIN-SPECIFIC PROTEASE 30; USP30; 612493 CANOPY 1, ZEBRAFISH, HOMOLOG OF; CNPY1; 612494 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 10-LIKE PROTEIN; ARHGEF10L; 612495 UBIQUITIN-CONJUGATING ENZYME E2C-BINDING PROTEIN; UBE2CBP; 612496 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19; 612497 TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE NUCLEAR PROTEIN 1; 612498 ADENYLOSUCCINATE SYNTHASE-LIKE 1; ADSSL1; 612499 DIMETHYLADENOSINE TRANSFERASE 1-LIKE; DIMT1L; 612500 DEAD BOX POLYPEPTIDE 52; DDX52; 612502 COLLECTIN 11; COLEC11; 612503 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5; 612504 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 6; ABCA6; 612505 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 8; ABCA8
Changed Entries:: 102576 ACTIVIN A RECEPTOR, TYPE I; ACVR1; 138030 GLUCAGON; GCG; 139395 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE; 182380 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;; 188550 THYROID CARCINOMA, PAPILLARY; 194050 WILLIAMS-BEUREN SYNDROME; WBS; 600047 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2; 600163 SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A; 601154 CARDIOMYOPATHY, DILATED, 1E; CMD1E; 605865 TASTE RECEPTOR TYPE 1, MEMBER 3; TAS1R3; 606226 TASTE RECEPTOR TYPE 1, MEMBER 2; TAS1R2; 612492 UBIQUITIN-SPECIFIC PROTEASE 30; USP30; 612496 RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19; 612503 ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 5; ABCA5

December 19, 2008
New Entries:: 612359 COWDEN-LIKE SYNDROME; 612412 CHROMOSOME 21 OPEN READING FRAME 56; C21ORF56; 612462 PSEUDOHYPOPARATHYROIDISM, TYPE IC; PHP1C; 612463 PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP; 612488 RING FINGER PROTEIN 38; RNF38; 612489 RING FINGER PROTEIN 24; RNF24
Changed Entries:: 103580 PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A; 103581 MOVED TO 103580; 108300 STICKLER SYNDROME, TYPE I; STL1; 113300 BRACHYDACTYLY, TYPE E; BDE; 116948 CELL DIVISION CYCLE 34, S. CEREVISIAE, HOMOLOG OF; CDC34; 139320 GNAS COMPLEX LOCUS; GNAS; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 158350 COWDEN DISEASE; CD; 166350 OSSEOUS HETEROPLASIA, PROGRESSIVE; POH; 167100 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT; 174800 MCCUNE-ALBRIGHT SYNDROME; MAS; 185470 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT B, IRON SULFUR PROTEIN; SDHB; 203330 PSEUDOHYPOPARATHYROIDISM, TYPE II; PHP2; 206700 ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY; 211900 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC; 275100 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300658 NDP GENE; NDP; 300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA; 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR; 600589 SERUM RESPONSE FACTOR; SRF; 601569 UBIQUITIN-CONJUGATING ENZYME E2G 1; UBE2G1; 601665 OBESITY; 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6; 602690 SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT D, INTEGRAL MEMBRANE PROTEIN;; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B; 603807 PETERS ANOMALY WITH CATARACT; 604219 CATARACT, AUTOSOMAL DOMINANT; 604229 PETERS ANOMALY; 606641 BODY MASS INDEX; BMI; 608660 INSULIN-INDUCED GENE 2; INSIG2; 610254 MICRO RNA 133A1; MIRN133A1; 610312 PIWI-LIKE 2: PIWIL2; 612359 COWDEN-LIKE SYNDROME; 612410 PSORIASIS SUSCEPTIBILITY 10; Clinical Synopsis for 103581 MOVED TO 103580

December 18, 2008
New Entries:: 300754 TAF9B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 300755 AGAMMAGLOBULINEMIA, X-LINKED; XLA; 612484 RIBONUCLEASE A FAMILY 7; RNASE7; 612485 RIBONUCLEASE A FAMILY, 8; RNASE8; 612487 RING FINGER PROTEIN 31; RNF31
Changed Entries:: 131410 RIBONUCLEASE A FAMILY, 2; RNASE2; 152427 POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2; KCNH2; 180440 RIBONUCLEASE A FAMILY, 1; RNASE1; 180540 MOVED TO 131410; 189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB; 193220 VITREORETINOCHOROIDOPATHY; VRCP; 203330 PSEUDOHYPOPARATHYROIDISM, TYPE II; PHP2; 219090 PITUITARY ADENOMA, ACTH-SECRETING; 274000 CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB; 300300 BRUTON AGAMMAGLOBULINEMIA TYROSINE KINASE; BTK; 300753 APOLIPOPROTEIN O; APOO; 300754 TAF9B RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 305450 OPITZ-KAVEGGIA SYNDROME; OKS; 600822 TAF9 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR,; 601074 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 1; CUGBP1; 603233 PSEUDOHYPOPARATHYROIDISM, TYPE IB; 609051 CASPASE RECRUITMENT DOMAIN-CONTAINING PROTEIN 8; CARD8; 610540 GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT; 610665 Fc FRAGMENT OF IgG, LOW AFFINITY IIIb, RECEPTOR FOR; FCGR3B; 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS; 612469 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION,; 612471 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2; AGXT2; 612472 METHYLTRANSFERASE-LIKE 3; METTL3; 612473 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4; 612474 CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB; 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME; 612476 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE; BATF; 612477 IQ MOTIF-CONTAINING PROTEIN G; IQCG; 612478 N-TERMINAL EF-HAND CALCIUM-BINDING PROTEIN 3; NECAB3; 612479 GEOGRAPHIC ATROPHY, SUSCEPTIBILITY TO PROGRESSION TO, IN AGE-RELATED; 612480 TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP; 612481 POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 12; PARP12; 612482 RING FINGER PROTEIN 43; RNF43; 612483 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 3; FAT3

December 17, 2008
New Entries:: 612482 RING FINGER PROTEIN 43; RNF43; 612486 DACHSOUS, DROSOPHILA, HOMOLOG OF, 2; DCHS2
Changed Entries:: 159552 MYELOID CELL LEUKEMIA 1; MCL1; 602962 UBIQUITIN-CONJUGATING ENZYME E2D 2; UBE2D2; 603172 UBIQUITIN-ACTIVATING ENZYME E1C; UBE1C; 603173 UBIQUITIN-CONJUGATING ENZYME E2M; UBE2M; 603385 AMYLOID BETA PRECURSOR PROTEIN-BINDING PROTEIN 1; APPBP1; 603478 UBIQUITIN-SPECIFIC PROTEASE 1; USP1; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605624 ARIADNE, DROSOPHILA, HOMOLOG OF, 1; ARIH1; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 610553 UBIQUITIN-FOLD MODIFIER 1; UFM1

December 16, 2008
New Entries:: 612479 GEOGRAPHIC ATROPHY, SUSCEPTIBILITY TO PROGRESSION TO, IN AGE-RELATED; 612480 TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP; 612481 POLY(ADP-RIBOSE) POLYMERASE FAMILY, MEMBER 12; PARP12; 612483 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 3; FAT3; Clinical Synopsis for 606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY; Clinical Synopsis for 612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE; Clinical Synopsis for 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
Changed Entries:: 120435 LYNCH SYNDROME I; 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM; 147796 JANUS KINASE 2; JAK2; 162361 NESCIENT HELIX LOOP HELIX 2; NHLH2; 168820 PARAOXONASE 1; PON1; 180385 LIM DOMAIN ONLY 2; LMO2; 300427 NEUROLIGIN 4; NLGN4; 300495 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2; 300691 BRAIN-EXPRESSED X-LINKED GENE 2; BEX2; 309840 MODIFIER, X-LINKED, FOR NEUROFUNCTIONAL DEFECTS; 309850 MONOAMINE OXIDASE A; MAOA; 600075 TATA BOX-BINDING PROTEIN; TBP; 600618 ETS VARIANT GENE 6; ETV6; 600976 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 1; FAT1; 602666 MYOSIN XVA; MYO15A; 603013 SCHIZOPHRENIA 6; SCZD6; 603029 TOLL-LIKE RECEPTOR 3; TLR3; 603451 LIM DOMAIN-BINDING 1; LDB1; 604269 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 2; FAT2; 606408 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY; 607312 ZINC FINGER CCCH DOMAIN-CONTAINING ANTIVIRAL PROTEIN 1; ZC3HAV1; 608232 LEUKEMIA, CHRONIC MYELOID; CML; 612350 SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE; 612394 BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS; 612411 FAT TUMOR SUPPRESSOR, DROSOPHILA, HOMOLOG OF, 4; FAT4; 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14; 612480 TCDD-INDUCIBLE POLY(ADP-RIBOSE) POLYMERASE; TIPARP; Clinical Synopsis for 266910 RENAL DYSPLASIA-LIMB DEFECTS SYNDROME; Clinical Synopsis for 608022 DIAPHANOSPONDYLODYSOSTOSIS; Clinical Synopsis for 611962 HUNTER-MACDONALD SYNDROME

December 15, 2008
New Entries:: 612478 N-TERMINAL EF-HAND CALCIUM-BINDING PROTEIN 3; NECAB3
Changed Entries:: 119800 CLUBFOOT, CONGENITAL; CCF; 123260 C-REACTIVE PROTEIN, PENTRAXIN-RELATED; CRP; 141300 HEMIFACIAL ATROPHY, PROGRESSIVE; HFA; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 188550 THYROID CARCINOMA, PAPILLARY; 600274 FRONTOTEMPORAL DEMENTIA; FTD; 601367 STROKE, ISCHEMIC; 602321 GLUTATHIONE S-TRANSFERASE, KAPPA-1; GSTK1; 603395 SPERM-ASSOCIATED ANTIGEN 1; SPAG1; 605210 DISRUPTED IN SCHIZOPHRENIA 1; DISC1; 610540 GNAS COMPLEX LOCUS, ANTISENSE TRANSCRIPT; 611962 HUNTER-MACDONALD SYNDROME; 612471 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2; AGXT2; Clinical Synopsis for 200500 ACHEIROPODY

December 12, 2008
New Entries:: 300753 APOLIPOPROTEIN O; APOO; 612471 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2; AGXT2; 612472 METHYLTRANSFERASE-LIKE 3; METTL3; 612473 PHOSPHATIDYLETHANOLAMINE-BINDING PROTEIN 4; 612474 CHROMOSOME 1q21.1 DELETION SYNDROME; 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME; 612476 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE; BATF; 612477 IQ MOTIF-CONTAINING PROTEIN G; IQCG; Clinical Synopsis for 611962 HUNTER-MACDONALD SYNDROME
Changed Entries:: 105850 ANGIOGENIN; ANG; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 136470 FOLLISTATIN; FST; 147290 INHIBIN, BETA A; INHBA; 216900 ACHROMATOPSIA 2; ACHM2; 220290 DEAFNESS, AUTOSOMAL RECESSIVE 1; DFNB1; 276903 MYOSIN VIIA; MYO7A; 600060 DEAFNESS, AUTOSOMAL RECESSIVE 2; DFNB2; 600316 DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3; 600791 ENLARGED VESTIBULAR AQUEDUCT; EVA; 600792 DEAFNESS, AUTOSOMAL RECESSIVE 5; DFNB5; 600971 DEAFNESS, AUTOSOMAL RECESSIVE 6; DFNB6; 600974 DEAFNESS, AUTOSOMAL RECESSIVE 7; DFNB7; 601702 RHO-ASSOCIATED COILED-COIL-CONTAINING PROTEIN KINASE 1; ROCK1; 601769 VITAMIN D RECEPTOR; VDR; 602092 DEAFNESS, AUTOSOMAL RECESSIVE 18; DFNB18; 602666 MYOSIN XVA; MYO15A; 603010 DEAFNESS, AUTOSOMAL RECESSIVE 17; DFNB17; 604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT; 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6; 604943 SOLUTE CARRIER FAMILY 26, MEMBER 5; SLC26A5; 605242 USH1C GENE; USH1C; 605343 FOLLISTATIN-LIKE 3; FSTL3; 606018 EGF-LIKE REPEATS- AND DISCOIDIN I-LIKE DOMAINS-CONTAINING PROTEIN; 606351 ESPIN, MOUSE, HOMOLOG OF; ESPN; 606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1; 607237 TRANSMEMBRANE INNER EAR-EXPRESSED GENE; TMIE; 607948 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO; 609006 DEAFNESS, AUTOSOMAL RECESSIVE 36; DFNB36; 609646 DEAFNESS, AUTOSOMAL RECESSIVE 42; DFNB42; 609647 DEAFNESS, AUTOSOMAL RECESSIVE 46; DFNB46; 609946 DEAFNESS, AUTOSOMAL RECESSIVE 47; 610283 CONE-ROD DYSTROPHY 10; CORD10; 610308 UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE; B3GALTL; 611962 HUNTER-MACDONALD SYNDROME; 612466 GUANYLATE-BINDING PROTEIN 4; GBP4; 612471 ALANINE-GLYOXYLATE AMINOTRANSFERASE 2; AGXT2; 612474 CHROMOSOME 1q21.1 DELETION SYNDROME; 612475 CHROMOSOME 1q21.1 DUPLICATION SYNDROME; Clinical Synopsis for 308100 ICHTHYOSIS, X-LINKED; XLI

December 11, 2008
New Entries:: 612464 ARRESTIN DOMAIN-CONTAINING 3; ARRDC3; 612466 GUANYLATE-BINDING PROTEIN 4; GBP4; 612467 GUANYLATE-BINDING PROTEIN 6; GBP6; 612468 GUANYLATE-BINDING PROTEIN 7; GBP7; 612469 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, MENTAL RETARDATION,; 612470 BASIC LEUCINE ZIPPER TRANSCRIPTION FACTOR, ATF-LIKE, 3; BATF3
Changed Entries:: 113505 BRAIN-DERIVED NEUROTROPHIC FACTOR; BDNF; 142857 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1; 142860 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA; 194072 WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION; 600299 PERICENTRIOLAR MATERIAL 1; PCM1; 600411 GUANYLATE-BINDING PROTEIN 1, INTERFERON-INDUCIBLE, 67-KD; GBP1; 600412 GUANYLATE-BINDING PROTEIN 2, INTERFERON-INDUCIBLE; GBP2; 600413 GUANYLATE-BINDING PROTEIN 3; GBP3; 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES; 601985 COILED-COIL DOMAIN-CONTAINING PROTEIN 6; CCDC6; 606240 THYROID CARCINOMA, NONMEDULLARY 1; 611467 GUANYLATE-BINDING PROTEIN 5: GBP5; 612464 ARRESTIN DOMAIN-CONTAINING 3; ARRDC3; 612466 GUANYLATE-BINDING PROTEIN 4; GBP4; Clinical Synopsis for 193220 VITREORETINOCHOROIDOPATHY; VRCP; Clinical Synopsis for 216900 ACHROMATOPSIA 2; ACHM2; Clinical Synopsis for 262300 ACHROMATOPSIA 3; ACHM3; Clinical Synopsis for 601927 LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES

December 10, 2008
New Entries:: 612459 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 13; BMIQ13; 612460 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14; BMIQ14; 612461 ACTIVITY-REGULATED CYTOSKELETON-ASSOCIATED PROTEIN; ARC; 612465 TPC1 DOMAIN FAMILY, MEMBER 4; TBC1D4; Clinical Synopsis for 107265 CD19 ANTIGEN; CD19; Clinical Synopsis for 606719 MELANOMA-PANCREATIC CANCER SYNDROME; Clinical Synopsis for 612285 JOUBERT SYNDROME 9; JBTS9
Changed Entries:: 102620 ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA; ACTA2; 107265 CD19 ANTIGEN; CD19; 114610 CANNABINOID RECEPTOR 1; CNR1; 123910 GRANZYME B; GZMB; 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 136533 FORKHEAD BOX O1A; FOXO1A; 146200 HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH; 146661 INTERLEUKIN 7 RECEPTOR; IL7R; 147730 INTERLEUKIN 2 RECEPTOR, ALPHA; IL2RA; 164160 LEPTIN; LEP; 164730 V-AKT MURINE THYMOMA VIRAL ONCOGENE HOMOLOG 1; AKT1; 176730 INSULIN; INS; 215800 CLEFT LARYNX, POSTERIOR; 311870 PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT; PHKA1; 556500 PARKINSON DISEASE, MITOCHONDRIAL; 600814 MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A; MRE11A; 600937 POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 11; KCNJ11; 601665 OBESITY; 602125 CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10; COX10; 602667 NBS1 GENE; NBS1; 602700 E1A-BINDING PROTEIN, 300-KD; EP300; 603212 BEADED FILAMENT STRUCTURAL PROTEIN 2; BFSP2; 603404 ZINC FINGER PROTEIN 169; ZNF169; 604040 RAD50, S. CEREVISIAE, HOMOLOG OF; RAD50; 604370 OVARIAN CANCER, EPITHELIAL; 604479 SIRTUIN 1; SIRT1; 604517 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, COACTIVATOR 1, ALPHA;; 605004 GLYCOGEN SYNTHASE KINASE 3-BETA; GSK3B; 605552 ABDOMINAL OBESITY-METABOLIC SYNDROME; 606440 STEREOCILIN; STRC; 606641 BODY MASS INDEX; BMI; 606719 MELANOMA-PANCREATIC CANCER SYNDROME; 606784 GLYCOGEN SYNTHASE KINASE 3-ALPHA; GSK3A; 607447 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4; BMIQ4; 607566 EPM2A GENE; EPM2A; 608072 NHL REPEAT-CONTAINING 1 GENE; NHLRC1; 608660 INSULIN-INDUCED GENE 2; INSIG2; 608972 CREB-REGULATED TRANSCRIPTION COACTIVATOR 2; CRTC2; 610556 HIGHLY ACCELERATED REGION GENE 1A; HAR1A; 610557 HIGHLY ACCELERATED REGION GENE 1B; HAR1B; 610767 AUTOPHAGY 16-LIKE 1; ATG16L1; 610966 FAT MASS- AND OBESITY-ASSOCIATED GENE; FTO; 611081 INFLAMMATORY BOWEL DISEASE 10; IBD10; 612285 JOUBERT SYNDROME 9; JBTS9; 612313 CHROMOSOME 2q32-q33 DELETION SYNDROME; 612374 TRANSMEMBRANE PROTEIN 173; TMEM173; Clinical Synopsis for 601346 DIABETES, NEONATAL, WITH PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA,

December 9, 2008
New Entries:: 612456 APOLIPOPROTEIN L DOMAIN-CONTAINING 1; APOLD1; 612457 AT-RICH INTERACTIVE DOMAIN-CONTAINING PROTEIN 3B; ARID3B; 612458 ACTIN-LIKE 6B; ACTL6B; Clinical Synopsis for 300245 PTOSIS, HEREDITARY CONGENITAL 2; Clinical Synopsis for 300750 SPASTIC PARAPLEGIA 34, X-LINKED; SPG34; Clinical Synopsis for 300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA; Clinical Synopsis for 608156 NABLUS MASK-LIKE FACIAL SYNDROME; Clinical Synopsis for 610233 HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME; HHS; Clinical Synopsis for 610244 SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33; Clinical Synopsis for 610250 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT; SPG31; Clinical Synopsis for 610279 PACHYGYRIA, FRONTOTEMPORAL; Clinical Synopsis for 610282 RETINITIS PIGMENTOSA 35; RP35; Clinical Synopsis for 610293 GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY; Clinical Synopsis for 612406 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE; DYT17
Changed Entries:: 109150 MACHADO-JOSEPH DISEASE; MJD; 119800 CLUBFOOT, CONGENITAL; CCF; 136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR; 137170 GAMMA-GLUTAMYL CYCLOTRANSFERASE; GGCT; 137357 MOVED TO 194072; 137800 GLIOMA OF BRAIN, FAMILIAL; 142967 HOMEOBOX B2; HOXB2; 164177 POU DOMAIN, CLASS 5, TRANSCRIPTION FACTOR 1; POU5F1; 169000 PATELLA, FAMILIAL RECURRENT DISLOCATION OF; 176640 PRION PROTEIN; PRNP; 182390 SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA SUBUNIT; SCN2A; 184429 SRY-BOX 2; SOX2; 191170 TUMOR PROTEIN p53; TP53; 222100 DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM; 262020 PILODENTAL DYSPLASIA WITH REFRACTIVE ERRORS; 264900 COAGULATION FACTOR XI; F11; 300245 PTOSIS, HEREDITARY CONGENITAL 2; 600040 BCL2-ASSOCIATED X PROTEIN; BAX; 601728 PHOSPHATASE AND TENSIN HOMOLOG; PTEN; 602170 MYELOID DIFFERENTIATION PRIMARY RESPONSE GENE 88; MYD88; 602402 FORKHEAD BOX C2; FOXC2; 604906 SCHIZOPHRENIA 9; SCZD9; 604958 ACTIN-LIKE 6A; ACTL6A; 605597 FORKHEAD TRANSCRIPTION FACTOR FOXL2; FOXL2; 605925 PERICENTRIN 2; PCNT2; 607047 ATAXIN 3; ATXN3; 607397 MELANOCORTIN 2 RECEPTOR; MC2R; 607937 HOMEOBOX TRANSCRIPTION FACTOR NANOG; NANOG; 610164 MICRO RNA 134; MIRN134; 610279 PACHYGYRIA, FRONTOTEMPORAL; 610282 RETINITIS PIGMENTOSA 35; RP35; 610945 MICRO RNA 296; MIRN296; Clinical Synopsis for 109500 BASILAR IMPRESSION, PRIMARY; Clinical Synopsis for 118420 CHIARI MALFORMATION TYPE I; Clinical Synopsis for 137357 MOVED TO 194072; Clinical Synopsis for 148900 SEGMENTATION SYNDROME 1; SGM1; Clinical Synopsis for 160150 MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT; Clinical Synopsis for 178600 PULMONARY HYPERTENSION, PRIMARY; PPH1; Clinical Synopsis for 186700 SYRINGOMYELIA, ISOLATED; Clinical Synopsis for 252010 MITOCHONDRIAL COMPLEX I DEFICIENCY; Clinical Synopsis for 254300 MYASTHENIA, LIMB-GIRDLE, FAMILIAL; Clinical Synopsis for 256000 LEIGH SYNDROME; LS; Clinical Synopsis for 268200 MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE; Clinical Synopsis for 301040 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED;; Clinical Synopsis for 306900 HEMOPHILIA B; HEMB; Clinical Synopsis for 308100 ICHTHYOSIS, X-LINKED; XLI; Clinical Synopsis for 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1; Clinical Synopsis for 600060 DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 2; DFNB2; Clinical Synopsis for 600145 SACRAL DEFECT WITH ANTERIOR MENINGOCELE; Clinical Synopsis for 601317 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11; Clinical Synopsis for 601813 EXUDATIVE VITREORETINOPATHY 4; EVR4; Clinical Synopsis for 606170 GENITOPATELLAR SYNDROME; Clinical Synopsis for 607317 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4; SCAR4; Clinical Synopsis for 608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3; MRT3

December 8, 2008
New Entries:: Clinical Synopsis for 300607 HYPEREKPLEXIA AND EPILEPSY; Clinical Synopsis for 610248 DEAFNESS, AUTOSOMAL RECESSIVE 65; DFNB65; Clinical Synopsis for 610542 MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES
Changed Entries:: 102680 ADDUCIN 1; ADD1; 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; 118470 CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA; CETP; 157910 MOVED TO 157900; 163000 CAPILLARY MALFORMATIONS, CONGENITAL, 1; 168860 PATELLA APLASIA-HYPOPLASIA; PTLAH; 182900 SPHEROCYTOSIS, HEREDITARY; HS; 191041 TROPONIN T1, SKELETAL, SLOW; TNNT1; 191060 TRYPTOPHAN HYDROXYLASE 1; TPH1; 191306 KINASE INSERT DOMAIN RECEPTOR; KDR; 300465 MOVED TO 301040; 300751 ANEMIA, SIDEROBLASTIC, X-LINKED; XLSA; 600678 MutS, E. COLI, HOMOLOG OF, 6; MSH6; 600970 MYOSIN VI; MYO6; 602089 HEMANGIOMA, CAPILLARY INFANTILE; 606346 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22; 606410 ANTHRAX TOXIN RECEPTOR 1; ANTXR1; 610542 MYASTHENIA, LIMB-GIRDLE, WITH TUBULAR AGGREGATES; 612433 DEAFNESS, AUTOSOMAL RECESSIVE 45; DFNB45; Clinical Synopsis for 128230 DYSTONIA, DOPA-RESPONSIVE; DRD; Clinical Synopsis for 129900 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME; Clinical Synopsis for 147421 INCLUSION BODY MYOSITIS; Clinical Synopsis for 157910 MOVED TO 157900; Clinical Synopsis for 182250 SINGLETON-MERTEN SYNDROME; Clinical Synopsis for 193700 ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A; Clinical Synopsis for 201750 POR DEFICIENCY; Clinical Synopsis for 225400 EHLERS-DANLOS SYNDROME, TYPE VI; Clinical Synopsis for 245600 LARSEN SYNDROME, RECESSIVE; Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; Clinical Synopsis for 256850 GIANT AXONAL NEUROPATHY 1; GAN1; Clinical Synopsis for 300465 MOVED TO 301040; Clinical Synopsis for 303350 MASA SYNDROME; Clinical Synopsis for 601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1; Clinical Synopsis for 604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; Clinical Synopsis for 607831 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K; Clinical Synopsis for 608340 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A; Clinical Synopsis for 611067 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4; DSMA4

December 5, 2008
New Entries:: 612437 EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B; 612443 LEUKODYSTROPHY, DYSMYELINATING, WITH SPASTIC PARAPARESIS AND DYSTONIA; 612455 SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 12;
Changed Entries:: 102200 PITUITARY ADENOMA, GROWTH HORMONE-SECRETING; 105500 AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1; 105590 ANAPLASTIC LYMPHOMA KINASE; ALK; 116897 CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA; 116898 CCAAT/ENHANCER-BINDING PROTEIN, DELTA; CEBPD; 147141 TRANSCRIPTION FACTOR 3; TCF3; 156490 NONMETASTATIC CELLS 1, PROTEIN EXPRESSED IN; NME1; 156569 METHYLGUANINE-DNA METHYLTRANSFERASE; MGMT; 162200 NEUROFIBROMATOSIS, TYPE I; NF1; 164870 V-ERB-B2 AVIAN ERYTHROBLASTIC LEUKEMIA VIRAL ONCOGENE HOMOLOG 2; ERBB2; 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; 171833 PHOSPHATIDYLINOSITOL 3-KINASE, REGULATORY SUBUNIT 1; PIK3R1; 182455 SOMATOSTATIN RECEPTOR 5; SSTR5; 185620 SURFEIT 1; SURF1; 185630 SURFEIT 2; SURF2; 185641 MEDIATOR COMPLEX SUBUNIT 22; MED22; 185660 SURFEIT 4; SURF4; 189965 CCAAT/ENHANCER-BINDING PROTEIN, BETA; CEBPB; 191316 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 3; NTRK3; 211980 LUNG CANCER; 248300 MAL DE MELEDA; 249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1; 254800 MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG; 256700 NEUROBLASTOMA; 277300 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1; SCDO1; 300672 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; 300750 SPASTIC PARAPLEGIA 34, X-LINKED; SPG34; 601626 LEUKEMIA, ACUTE MYELOID; AML; 603851 PAIRED-LIKE HOMEOBOX 2B; PHOX2B; 604332 CYSTEINE-RICH HYDROPHOBIC DOMAIN 2; CHIC2; 604443 ACYL-CoA SYNTHETASE LONG-CHAIN FAMILY MEMBER 6; ACSL6; 605995 KINESIN FAMILY MEMBER 1B; KIF1B; 606868 HOMEODOMAIN-INTERACTING PROTEIN KINASE 2; HIPK2; 607096 SOLUTE CARRIER FAMILY 22 (URATE TRANSPORTER), MEMBER 12; SLC22A12; 608044 SOLUTE CARRIER FAMILY 5 (IODIDE TRANSPORTER), MEMBER 8; SLC5A8; 608500 PRICKLE-LIKE 1; PRICKLE1; 611026 FATTY ACID 2-HYDROXYLASE; FA2H; 612454 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 11; MEGF11; Clinical Synopsis for 101200 APERT SYNDROME; Clinical Synopsis for 101400 SAETHRE-CHOTZEN SYNDROME; SCS; Clinical Synopsis for 103580 ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO; Clinical Synopsis for 103581 ALBRIGHT HEREDITARY OSTEODYSTROPHY 2; Clinical Synopsis for 109120 AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE; Clinical Synopsis for 147060 HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT; Clinical Synopsis for 148050 KBG SYNDROME; Clinical Synopsis for 150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1; Clinical Synopsis for 151100 LEOPARD SYNDROME 1; Clinical Synopsis for 170390 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Clinical Synopsis for 180860 SILVER-RUSSELL SYNDROME; SRS; Clinical Synopsis for 183900 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC; Clinical Synopsis for 186500 MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1; Clinical Synopsis for 187600 THANATOPHORIC DYSPLASIA, TYPE I; TD1; Clinical Synopsis for 187601 THANATOPHORIC DYSPLASIA, TYPE II; TD2; Clinical Synopsis for 211350 KYPHOMELIC DYSPLASIA; Clinical Synopsis for 211910 CAMPTODACTYLY SYNDROME, GUADALAJARA, TYPE I; GCS1; Clinical Synopsis for 214100 ZELLWEGER SYNDROME; ZS; Clinical Synopsis for 215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1; Clinical Synopsis for 218000 AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN; Clinical Synopsis for 219080 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH; Clinical Synopsis for 223370 DUBOWITZ SYNDROME; Clinical Synopsis for 224300 DYSOSTEOSCLEROSIS; Clinical Synopsis for 225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1; Clinical Synopsis for 227330 FACIODIGITOGENITAL SYNDROME, RECESSIVE; Clinical Synopsis for 232220 GLYCOGEN STORAGE DISEASE Ib; Clinical Synopsis for 246200 DONOHUE SYNDROME; Clinical Synopsis for 250215 METAPHYSEAL ACROSCYPHODYSPLASIA; Clinical Synopsis for 252920 MUCOPOLYSACCHARIDOSIS TYPE IIIB; Clinical Synopsis for 252930 MUCOPOLYSACCHARIDOSIS TYPE IIIC; Clinical Synopsis for 253250 MULIBREY NANISM; Clinical Synopsis for 255800 SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1; Clinical Synopsis for 258315 OMODYSPLASIA, GENERALIZED FORM; Clinical Synopsis for 259420 OSTEOGENESIS IMPERFECTA, TYPE III; Clinical Synopsis for 261540 PETERS-PLUS SYNDROME; Clinical Synopsis for 269880 SHORT SYNDROME; Clinical Synopsis for 273750 THREE M SYNDROME; Clinical Synopsis for 276820 ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY; Clinical Synopsis for 300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; Clinical Synopsis for 302350 NANCE-HORAN SYNDROME; NHS; Clinical Synopsis for 302960 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2; Clinical Synopsis for 309350 MELNICK-NEEDLES SYNDROME; MNS; Clinical Synopsis for 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; Clinical Synopsis for 600430 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; Clinical Synopsis for 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; Clinical Synopsis for 606851 CREE MENTAL RETARDATION SYNDROME; Clinical Synopsis for 608013 GAUCHER DISEASE, PERINATAL LETHAL; Clinical Synopsis for 608545 LARSEN-LIKE SYNDROME; Clinical Synopsis for 608571 ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY; Clinical Synopsis for 609008 MARFANOID HABITUS WITH SITUS INVERSUS; Clinical Synopsis for 610475 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2; Clinical Synopsis for 610489 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

December 4, 2008
New Entries:: 612362 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12; 612453 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 10; MEGF10; 612454 MULTIPLE EGF-LIKE DOMAINS 11; MEGF11
Changed Entries:: 116860 CEREBRAL CAVERNOUS MALFORMATIONS; CCM; 120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2; 145410 OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT; 155600 MELANOMA, CUTANEOUS MALIGNANT; CMM; 159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA GENE; MLL; 160800 MYOTONIA CONGENITA, AUTOSOMAL DOMINANT; 164757 V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1; BRAF; 168300 PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC; 169550 PELVIS-SHOULDER DYSPLASIA; 191010 TROPOMYOSIN 1; TPM1; 191040 TROPONIN C, SLOW; TNNC1; 191045 TROPONIN T2, CARDIAC; TNNT2; 203450 ALEXANDER DISEASE; 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1; 216360 COACH SYNDROME; 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1; 244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1; 255700 MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE; 260660 COUSIN SYNDROME; 269950 MOVED TO 206000; 306700 HEMOPHILIA A; 306900 HEMOPHILIA B; HEMB; 309550 FMR1 GENE; FMR1; 601146 GROWTH/DIFFERENTIATION FACTOR 5; GDF5; 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2; 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3; PFIC3; 602942 ECOTROPIC VIRAL INTEGRATION SITE 5; EVI5; 603317 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, Q; PTPRQ; 604127 T-BOX 15; TBX15; 604266 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 6; MEGF6; 604267 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 8; MEGF8; 604268 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 9; MEGF9; 605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2; BRIC2; 605763 SOLUTE CARRIER FAMILY 45, MEMBER 1; SLC45A1; 606416 NLR FAMILY, PYRIN DOMAIN-CONTAINING 3; NLRP3; 606636 NLR FAMILY, PYRIN DOMAIN-CONTAINING 1; NLRP1; 608390 MYOTONIA, POTASSIUM-AGGRAVATED; 609364 NLR FAMILY, PYRIN DOMAIN-CONTAINING 2; NLRP2; 609645 NLR FAMILY, PYRIN DOMAIN-CONTAINING 4; NLRP4; 609648 NLR FAMILY, PYRIN DOMAIN-CONTAINING 12; NLRP12; 609650 NLR FAMILY, PYRIN DOMAIN-CONTAINING 6; NLRP6; 609658 NLR FAMILY, PYRIN DOMAIN-CONTAINING 5; NLRP5; 609659 NLR FAMILY, PYRIN DOMAIN-CONTAINING 8; NLRP8; 609660 NLR FAMILY, PYRIN DOMAIN-CONTAINING 13; NLRP13; 609661 NLR FAMILY, PYRIN DOMAIN-CONTAINING 7; NLRP7; 609662 NLR FAMILY, PYRIN DOMAIN-CONTAINING 10; NLRP10; 609663 NLR FAMILY, PYRIN DOMAIN-CONTAINING 9; NLRP9; 609664 NLR FAMILY, PYRIN DOMAIN-CONTAINING 11; NLRP11; 609665 NLR FAMILY, PYRIN DOMAIN-CONTAINING 14; NLRP14; 610104 MICRO RNA 125B1; MIRN125B1; 611144 ABRAXAS BROTHER 1; 612013 COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A; 612285 JOUBERT SYNDROME 9; JBTS9; 612453 MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS 10; MEGF10; Clinical Synopsis for 269950 MOVED TO 206000

December 3, 2008
New Entries:: 612440 LEUKODYSTROPHY, HYPOMYELINATING, 7; 612444 CILIARY DYSKINESIA, PRIMARY, 9; 612449 GEN1, DROSOPHILA, HOMOLOG OF; GEN1; 612450 HBS1-LIKE PROTEIN; HBS1L; 612451 RING FINGER PROTEIN 114; RNF114; 612452 KIAA1267 GENE; KIAA1267; Clinical Synopsis for 610246 SPINOCEREBELLAR ATAXIA 28; SCA28
Changed Entries:: 126200 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS; 138040 GLUCOCORTICOID RECEPTOR; GCCR; 162643 CHEMOKINE, CXC MOTIF, RECEPTOR 4; CXCR4; 191045 TROPONIN T2, CARDIAC; TNNT2; 205950 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE; 206000 ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE; 220110 MITOCHONDRIAL COMPLEX IV DEFICIENCY; 242650 MOVED TO 244400; 244400 CILIARY DYSKINESIA, PRIMARY, 1; CILD1; 251120 METHYLMALONYL-CoA EPIMERASE DEFICIENCY; 257220 NIEMANN-PICK DISEASE, TYPE C1; NPC1; 265100 PULMONARY ALVEOLAR MICROLITHIASIS; 269950 MOVED TO 206000; 277000 MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME; 278760 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF; 300215 LISSENCEPHALY, X-LINKED, 2; LISX2; 300382 ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX; 300419 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED;; 300432 MOVED TO 308350; 300533 VARIABLY CHARGED, X CHROMOSOME, 3A; VCX3A; 301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2; 308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; 309510 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME; PRTS; 312080 PELIZAEUS-MERZBACHER DISEASE; PMD; 600408 DISCOIDIN DOMAIN RECEPTOR FAMILY, MEMBER 1; DDR1; 600725 SONIC HEDGEHOG; SHH; 600835 CHEMOKINE, CXC MOTIF, LIGAND 12; CXCL12; 602229 SRY-BOX 10; SOX10; 603604 PHOSPHOLIPASE A2, GROUP VI; PLA2G6; 604366 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1; DNAI1; 605248 MUCOLIPIN 1; MCOLN1; 605483 DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 2; DNAI2; 607623 NPC1 GENE; NPC1; 607694 LEUKODYSTROPHY, DYSMYELINATING, WITH OLIGODONTIA; 608644 CILIARY DYSKINESIA, PRIMARY, 3; 608707 CELL ADHESION MOLECULE-RELATED/DOWNREGULATED BY ONCOGENES; CDON; 609588 GLUTAREDOXIN 5; GLRX5; 609703 MICRO RNA 15A; MIRN15A; 609704 MICRO RNA 16-1; MIRN16-1; 611884 CILIARY DYSKINESIA, PRIMARY, 7; 612272 MOVED TO 608644; 612273 MOVED TO 611884; 612274 CILIARY DYSKINESIA, PRIMARY, 8; 612311 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 5; 612312 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 6; 612322 FAST KINASE DOMAIN-CONTAINING PROTEIN 2; FASTKD2; Clinical Synopsis for 308350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1; Clinical Synopsis for 609136 PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG

December 2, 2008
New Entries:: 300752 PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT; XLDPT; 612438 LEUKODYSTROPHY, HYPOMYELINATING, 6; 612448 AGE-RELATED HEARING IMPAIRMENT 1; ARHI1; Clinical Synopsis for 300612 BROOKS-WISNIEWSKI-BROWN SYNDROME; Clinical Synopsis for 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3; Clinical Synopsis for 605479 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 2; Clinical Synopsis for 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; Clinical Synopsis for 608395 KARAK SYNDROME; Clinical Synopsis for 610131 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,; Clinical Synopsis for 610319 RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA; Clinical Synopsis for 610353 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4; Clinical Synopsis for 610357 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE; SPG30
Changed Entries:: 102680 ADDUCIN 1; ADD1; 102681 ADDUCIN 2; ADD2; 109150 MACHADO-JOSEPH DISEASE; MJD; 113705 BREAST CANCER 1 GENE; BRCA1; 120120 COLLAGEN, TYPE VII, ALPHA-1; COL7A1; 120290 COLLAGEN, TYPE XI, ALPHA-2; COL11A2; 121011 GAP JUNCTION PROTEIN, BETA-2; GJB2; 124900 DEAFNESS, AUTOSOMAL DOMINANT 1; DFNA1; 125480 MAJOR AFFECTIVE DISORDER 1; MAFD1; 146750 ICHTHYOSIS, LAMELLAR, AUTOSOMAL DOMINANT; 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP; 160775 MYOSIN, HEAVY CHAIN 9, NONMUSCLE; MYH9; 164920 V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG; KIT; 171060 ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; ABCB4; 176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16; 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1; 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1; 276903 MYOSIN VIIA; MYO7A; 300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3; 300628 FERM DOMAIN-CONTAINING 7; FRMD7; 301300 DELTA-AMINOLEVULINATE SYNTHASE 2; ALAS2; 309550 FMR1 GENE; FMR1; 310700 NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1; 600101 DEAFNESS, AUTOSOMAL DOMINANT 2; DFNA2; 600409 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-DELTA; PPARD; 600483 FIBROBLAST GROWTH FACTOR 8; FGF8; 600652 DEAFNESS, AUTOSOMAL DOMINANT 4; DFNA4; 600965 DEAFNESS, AUTOSOMAL DOMINANT 6; DFNA6; 600970 MYOSIN VI; MYO6; 600994 DEAFNESS, AUTOSOMAL DOMINANT 5; DFNA5; 601316 DEAFNESS, AUTOSOMAL DOMINANT 10; DFNA10; 601317 DEAFNESS, AUTOSOMAL DOMINANT 11; DFNA11; 601369 DEAFNESS, AUTOSOMAL DOMINANT 9; DFNA9; 601412 DEAFNESS, AUTOSOMAL DOMINANT 7; DFNA7; 601478 MYOSIN IA; MYO1A; 601543 DEAFNESS, AUTOSOMAL DOMINANT 12; DFNA12; 601544 DEAFNESS, AUTOSOMAL DOMINANT 3; DFNA3; 601568 ADDUCIN 3; ADD3; 601868 DEAFNESS, AUTOSOMAL DOMINANT 13; DFNA13; 602121 DIAPHANOUS, DROSOPHILA, HOMOLOG OF, 1; DIAPH1; 602347 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3; PFIC3; 602459 DEAFNESS, AUTOSOMAL DOMINANT 15; DFNA15; 602460 POU DOMAIN, CLASS 4, TRANSCRIPTION FACTOR 3; POU4F3; 602538 CUG TRIPLET REPEAT, RNA-BINDING PROTEIN 2; CUGBP2; 602574 TECTORIN, ALPHA; TECTA; 603196 COCHLIN; COCH; 603324 GAP JUNCTION PROTEIN, BETA-3; GJB3; 603335 DYNEIN, AXONEMAL, HEAVY CHAIN 5; DNAH5; 603339 DYNEIN, AXONEMAL, HEAVY CHAIN 11; DNAH11; 603352 BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 5; BIRC5; 603371 GLE1, S. CEREVISIAE, HOMOLOG-LIKE; GLE1L; 603537 POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4; KCNQ4; 603550 EYES ABSENT 4; EYA4; 603622 DEAFNESS, AUTOSOMAL DOMINANT 17; DFNA17; 604129 EPIDERMOLYSIS BULLOSA PRURIGINOSA; 604285 ALANINE-GLYOXYLATE AMINOTRANSFERASE; AGXT; 604364 EPILEPSY, PARTIAL, WITH VARIABLE FOCI; 604418 GAP JUNCTION PROTEIN, BETA-6; GJB6; 604479 SIRTUIN 1; SIRT1; 604685 HOMEOBOX A2; HOXA2; 605316 DEAFNESS, AUTOSOMAL RECESSIVE 10; DFNB10; 605511 TRANSMEMBRANE PROTEASE, SERINE 3; TMPRSS3; 605583 DEAFNESS, AUTOSOMAL DOMINANT 25; DFNA25; 606012 DEAFNESS, AUTOSOMAL DOMINANT 18; DFNA18; 606201 WFS1 GENE; WFS1; 606282 DEAFNESS, AUTOSOMAL DOMINANT 24; DFNA24; 606346 DEAFNESS, AUTOSOMAL DOMINANT 22; DFNA22; 606451 DEAFNESS, AUTOSOMAL DOMINANT 30; DFNA30; 606609 3-PRIME @REPAIR EXONUCLEASE 1; TREX1; 606705 DEAFNESS, AUTOSOMAL DOMINANT 36; DFNA36; 606706 TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1; TMC1; 606763 CILIARY DYSKINESIA, PRIMARY, 2; CILD2; 607017 DEAFNESS, AUTOSOMAL DOMINANT 21; DFNA21; 607453 DEAFNESS, AUTOSOMAL DOMINANT 44; DFNA44; 607557 SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER; 607600 EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS; EBSS; 607680 ZINC FINGER PROTEIN 363; ZNF363; 607765 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; 607821 DEAFNESS, AUTOSOMAL RECESSIVE 37; DFNB37; 607841 DEAFNESS, AUTOSOMAL DOMINANT, DUE TO MUTATION IN MYO1A; 607983 SCYL1-BINDING PROTEIN 1; SCYL1BP1; 608219 DEAFNESS, AUTOSOMAL RECESSIVE 38; 608224 DEAFNESS, AUTOSOMAL DOMINANT 41; DFNA41; 608264 DEAFNESS, AUTOSOMAL RECESSIVE 40; DFNB40; 608265 DEAFNESS, AUTOSOMAL RECESSIVE 39; DFNB39; 608372 DEAFNESS, AUTOSOMAL DOMINANT 49; DFNA49; 608394 DEAFNESS, AUTOSOMAL DOMINANT 43; DFNA43; 608568 MYOSIN, HEAVY CHAIN 14, NONMUSCLE; MYH14; 608576 GRAINYHEAD-LIKE 2; GRHL2; 608641 DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28; 608645 DEAFNESS, AUTOSOMAL DOMINANT 31; DFNA31; 608646 CILIARY DYSKINESIA, PRIMARY, 4; 608647 CILIARY DYSKINESIA, PRIMARY, 5; 608652 DEAFNESS, AUTOSOMAL DOMINANT 47; DFNA47; 608798 DFNA5 GENE; DFNA5; 609119 THAP DOMAIN-CONTAINING PROTEIN 11; THAP11; 609509 INTERLEUKIN 31; IL31; 609510 INTERLEUKIN 31 RECEPTOR A; IL31RA; 609564 POLY(ADP-RIBOSE) POLYMERASE 10; PARP10; 609965 DEAFNESS, AUTOSOMAL DOMINANT 53; DFNA53; 610531 FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; FAM126A; 610532 LEUKODYSTROPHY, HYPOMYELINATING, 5; 610852 CILIARY DYSKINESIA, PRIMARY, 6; 611051 COILED-COIL DOMAIN-CONTAINING PROTEIN 50; CCDC50; 612290 MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE; 612448 AGE-RELATED HEARING IMPAIRMENT 1; ARHI1; Clinical Synopsis for 147480 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY; ICP; Clinical Synopsis for 176100 PORPHYRIA CUTANEA TARDA; Clinical Synopsis for 211600 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1; PFIC1; Clinical Synopsis for 214950 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; Clinical Synopsis for 230200 GALACTOKINASE DEFICIENCY; Clinical Synopsis for 235555 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; Clinical Synopsis for 243300 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1; BRIC1; Clinical Synopsis for 248510 MANNOSIDOSIS, BETA A, LYSOSOMAL; Clinical Synopsis for 256600 NEUROAXONAL DYSTROPHY, INFANTILE; INAD1; Clinical Synopsis for 270300 PEELING SKIN SYNDROME; Clinical Synopsis for 300352 CREATINE DEFICIENCY SYNDROME, X-LINKED; Clinical Synopsis for 309550 FMR1 GENE; FMR1; Clinical Synopsis for 600513 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1; Clinical Synopsis for 601847 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2; Clinical Synopsis for 603165 DERMATITIS, ATOPIC; Clinical Synopsis for 607685 HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC; HES

December 1, 2008
New Entries:: 612446 COMPLEMENT COMPONENT 6 DEFICIENCY; 612447 SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION; Clinical Synopsis for 610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B
Changed Entries:: 113670 HYPERTROPHY OF THE BREAST, JUVENILE; JHB; 136800 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1; FECD1; 138945 GRANULIN; GRN; 142790 CD74 ANTIGEN; CD74; 176797 ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 16; ZBTB16; 190685 DOWN SYNDROME; 191043 TROPONIN I, FAST-TWITCH SKELETAL MUSCLE ISOFORM; TNNI2; 192430 VELOCARDIOFACIAL SYNDROME; 217050 COMPLEMENT COMPONENT 6; C6; 217070 COMPLEMENT COMPONENT 7; C7; 229000 KALLIKREIN B, PLASMA, 1; KLKB1; 268100 ENHANCED S-CONE SYNDROME; ESCS; 516003 COMPLEX I, SUBUNIT ND4; MTND4; 535000 LEBER OPTIC ATROPHY; 600571 RE1-SILENCING TRANSCRIPTION FACTOR; REST; 600660 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE A; MEF2A; 600663 MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE D; MEF2D; 600855 DUAL-SPECIFICITY TYROSINE PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A; 601680 ARTHROGRYPOSIS, DISTAL, TYPE 2B; DA2B; 601903 URIDINE DIPHOSPHATE GLYCOSYLTRANSFERASE 2 FAMILY, MEMBER B17; UGT2B17; 603248 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB; BMPR1B; 604485 NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; NR2E3; 604595 CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 1; 604946 KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, LONG CYTOPLASMIC; 608798 DFNA5 GENE; DFNA5; 609030 DIGEORGE SYNDROME CRITICAL REGION GENE 8; DGCR8; 610168 LOEYS-DIETZ SYNDROME, TYPE 1B; LDS1B; 611020 MICRO RNA 21; MIRN21; 611131 RETINITIS PIGMENTOSA 37; 612425 SHUGOSHIN-LIKE 2; SGOL2; Clinical Synopsis for 235000 HEMIHYPERPLASIA, ISOLATED; IH; Clinical Synopsis for 603513 CEREBRAL PALSY, SPASTIC, SYMMETRIC, AUTOSOMAL RECESSIVE; Clinical Synopsis for 606170 GENITOPATELLAR SYNDROME; Clinical Synopsis for 609192 LOEYS-DIETZ SYNDROME, TYPE 1A; LDS1A; Clinical Synopsis for 609945 BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA

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