KEGG   VARIANT: 26053v1
Entry
26053v1                      Variant                               
Name
AUTS2 mutation
Type
Loss of function
Gene
AUTS2  activator of transcription and developmental regulator AUTS2 [KO:K23214]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607270
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA
  Title
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
  Journal
Am J Hum Genet 92:210-20 (2013)
DOI:10.1016/j.ajhg.2012.12.011
Reference
  Authors
Gao Z, Lee P, Stafford JM, von Schimmelmann M, Schaefer A, Reinberg D
  Title
An AUTS2-Polycomb complex activates gene expression in the CNS.
  Journal
Nature 516:349-54 (2014)
DOI:10.1038/nature13921
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