KEGG   VARIANT: 9230v1
Entry
9230v1                      Variant                                
Name
RAB11B mutation
Type
Loss of function
Gene
RAB11B  RAB11B, member RAS oncogene family [KO:K07905]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604198
Network
nt06541  Cytoskeleton in neurons
Disease
H02863  Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
Reference
  Authors
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A, Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R
  Title
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
  Journal
Am J Hum Genet 101:824-832 (2017)
DOI:10.1016/j.ajhg.2017.09.015
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