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Gene Scoring Gene List

Gene List - Category S - Syndromic


Gene Symbol Gene Name Chromosomal Loc Category ID Action
  ADNP Activity-dependent neuroprotector homeobox 20q13.13 1S Add Score
  ADSL adenylosuccinate lyase 22q13.1 S Add Score
  AHDC1 AT-hook DNA binding motif containing 1 1p36.11-p35.3 3S Add Score
  AHI1 Abelson helper integration site 1 6q23.3 S Add Score
  ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) 6p22.3 S Add Score
  ALG6 ALG6, alpha-1,3-glucosyltransferase 1p31.3 S Add Score
  ANKRD11 ankyrin repeat domain 11 16q24.3 2S Add Score
  ARID1B AT rich interactive domain 1B (SWI1-like) 6q25.3 1S Add Score
  ARX aristaless related homeobox Xp21.3 S Add Score
  ASXL3 Additional sex combs like 3 (Drosophila) 18q12.1 1S Add Score
  ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 S Add Score
  BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2p16.1 2S Add Score
  BRAF v-raf murine sarcoma viral oncogene homolog B 7q34 S Add Score
  C12orf57 Chromosome 12 open reading frame 57 12p13.31 S Add Score
  CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 S Add Score
  CDKL5 cyclin-dependent kinase-like 5 Xp22.13 S Add Score
  CHD2 Chromodomain helicase DNA binding protein 2 15q26.1 2S Add Score
  CHD7 chromodomain helicase DNA binding protein 7 8q12.2 S Add Score
  CHD8 chromodomain helicase DNA binding protein 8 14q11.2 1S Add Score
  CHKB Choline kinase beta 22q13.33 S Add Score
  CNKSR2 connector enhancer of kinase suppressor of Ras 2 Xp22.12 3S Add Score
  CNOT3 CCR4-NOT transcription complex subunit 3 19q13.42 4S Add Score
  CNTNAP2 contactin associated protein-like 2 7q35-q36.1 2S Add Score
  DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked Xp11.4 3S Add Score
  DEAF1 DEAF1 transcription factor 11p15.5 2S Add Score
  DHCR7 7-dehydrocholesterol reductase 11q13.4 S Add Score
  DMD dystrophin (muscular dystrophy, Duchenne and Becker types) Xp21.2-p21.1 S Add Score
  DMPK dystrophia myotonica-protein kinase 19q13.32 S Add Score
  DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 1S Add Score
  EHMT1 Euchromatic histone-lysine N-methyltransferase 1 9q34.3 3S Add Score
  EP300 E1A binding protein p300 22q13.2 4S Add Score
  FMR1 fragile X mental retardation 1 Xq27.3 S Add Score
  GATM Glycine amidinotransferase (L-arginine:glycine amidinotransferase)  15q21.1 S Add Score
  HCN1 Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 5p12 S Add Score
  HDAC4 histone deacetylase 4 2q37.3 S Add Score
  HEPACAM hepatic and glial cell adhesion molecule 11q24.2 S Add Score
  HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 15q13.1 S Add Score
  HOXA1 homeobox A1 7p15.2 S Add Score
  IQSEC2 IQ motif and Sec7 domain 2 Xp11.22 4S Add Score
  KAT6A K(lysine) acetyltransferase 6A 8p11.21 3S Add Score
  KMT2A Lysine (K)-specific methyltransferase 2A 11q23.3 2S Add Score
  MAGEL2 MAGE-like 2 15q11.2 2S Add Score
  MBD5 Methyl-CpG binding domain protein 5 2q23.1 3S Add Score
  MBOAT7 membrane bound O-acyltransferase domain containing 7 19q13.42 2S Add Score
  MECP2 Methyl CpG binding protein 2 Xq28 2S Add Score
  MEF2C myocyte enhancer factor 2C 5q14.3 4S Add Score
  NACC1 nucleus accumbens associated 1 19p13.13 4S Add Score
  NF1 neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) 17q11.2 S Add Score
  NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.13 S Add Score
  NIPBL Nipped-B homolog (Drosophila) 5p13.2 S Add Score
  NR2F1 nuclear receptor subfamily 2 group F member 1 5q15 4S Add Score
  NSD1 nuclear receptor binding SET domain protein 1 5q35.3 S Add Score
  NTNG1 netrin G1 1p13.3 4S Add Score
  OCRL oculocerebrorenal syndrome of Lowe Xq26.1 S Add Score
  PACS1 phosphofurin acidic cluster sorting protein 1 11q13.1-q13.2 S Add Score
  PAX6 Paired box 6 11p13 S Add Score
  PCCA propionyl-CoA carboxylase alpha subunit 13q32.3 S Add Score
  PCCB propionyl-CoA carboxylase beta subunit 3q22.3 S Add Score
  PCDH19 protocadherin 19 Xq22.1 S Add Score
  PIK3R2 Phosphoinositide-3-kinase, regulatory subunit 2 (beta) 19p13.11 S Add Score
  POGZ Pogo transposable element with ZNF domain 1q21.3 1S Add Score
  PPP2R5D Protein phosphatase 2, regulatory subunit B', delta 6p21.1 4S Add Score
  PRKD1 Protein kinase D1 14q12 S Add Score
  PRODH Proline dehydrogenase (oxidase) 1 22q11.21 3S Add Score
  PSMD12 proteasome 26S subunit, non-ATPase 12 17q24.2 S Add Score
  PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 1S Add Score
  PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 4S Add Score
  RAI1 retinoic acid induced 1 17p11.2 S Add Score
  RERE Arginine-glutamic acid dipeptide (RE) repeats 1p36.23 4S Add Score
  RNF135 Ring finger protein 135  17q11.2 4S Add Score
  RPS6KA3 Ribosomal protein S6 kinase, 90kDa, polypeptide 3 Xp22.12 4S Add Score
  SATB2 SATB homeobox 2 2q33.1 4S Add Score
  SCN1A sodium channel, voltage-gated, type I, alpha subunit 2q24.3 S Add Score
  SETD5 SET domain containing 5 3p25.3 1S Add Score
  SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 S Add Score
  SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13.33 1S Add Score
  SIN3A SIN3 transcription regulator family member A  15q24.2 4S Add Score
  SLC1A2 Solute carrier family 1 (glial high affinity glutamate transporter), member 2 11p13 S Add Score
  SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 Xq26.3 S Add Score
  SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 9p24.3 S Add Score
  SNX14 Sorting nexin 14 6q14.3 S Add Score
  SOX5 SRY (sex determining region Y)-box 5 12p12.1 S Add Score
  STAG1 stromal antigen 1 3q22.3 S Add Score
  STXBP1 Syntaxin binding protein 1 9q34.11 3S Add Score
  SYNE1 spectrin repeat containing, nuclear envelope 1 6q25.2 4S Add Score
  SYNGAP1 synaptic Ras GTPase activating protein 1 6p21.32 1S Add Score
  TAF1 TATA-box binding protein associated factor 1 Xq13.1 S Add Score
  TCF4 Transcription factor 4 18q21.2 S Add Score
  TRIP12 Thyroid hormone receptor interactor 12 2q36.3 1S Add Score
  TSC1 tuberous sclerosis 1 9q34.13 S Add Score
  TSC2 tuberous sclerosis 2 16p13.3 S Add Score
  UBE3A ubiquitin protein ligase E3A 15q11.2 3S Add Score
  UNC13A unc-13 homolog A 19p13.11 4S Add Score
  UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) Xq24 S Add Score
  VPS13B vacuolar protein sorting 13 homolog B (yeast) 8q22.2 S Add Score
  WAC WW domain containing adaptor with coiled-coil 10p12.1 2S Add Score
  ZBTB20 Zinc finger and BTB domain containing 20 3q13.31 3S Add Score
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