KEGG   VARIANT: 5528v1
Entry
5528v1                      Variant                                
Name
PPP2R5D mutation
Gene
PPP2R5D  protein phosphatase 2 regulatory subunit B'delta [KO:K11584]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601646
Network
nt06512  Chromosome cohesion and segregation
nt06530  PI3K signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
H02632  Houge-Janssens syndrome
Reference
  Authors
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Doskeland SO, Hurles ME, FitzPatrick DR, Janssens V
  Title
B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
  Journal
J Clin Invest 125:3051-62 (2015)
DOI:10.1172/JCI79860
Reference
  Authors
Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK
  Title
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
  Journal
Neurogenetics 17:43-9 (2016)
DOI:10.1007/s10048-015-0466-9
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