KEGG   VARIANT: 171023v1
Entry
171023v1                      Variant                              
Name
ASXL1 mutation
Type
Loss of function
Gene
ASXL1  ASXL transcriptional regulator 1 [KO:K11471]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612990
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H01481  Myelodysplastic syndrome
H02047  Bohring-Opitz syndrome
Reference
  Authors
Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB
  Title
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
  Journal
Nat Genet 43:729-31 (2011)
DOI:10.1038/ng.868
Reference
  Authors
Gelsi-Boyer V, Trouplin V, Adelaide J, Bonansea J, Cervera N, Carbuccia N, Lagarde A, Prebet T, Nezri M, Sainty D, Olschwang S, Xerri L, Chaffanet M, Mozziconacci MJ, Vey N, Birnbaum D
  Title
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia.
  Journal
Br J Haematol 145:788-800 (2009)
DOI:10.1111/j.1365-2141.2009.07697.x
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