KEGG   VARIANT: 5518v1
Entry
5518v1                      Variant                                
Name
PPP2R1A mutation
Gene
PPP2R1A  protein phosphatase 2 scaffold subunit Aalpha [KO:K03456]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605983
Network
nt06512  Chromosome cohesion and segregation
nt06530  PI3K signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
H02632  Houge-Janssens syndrome
Reference
  Authors
Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V
  Title
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
  Journal
Genet Med 23:352-362 (2021)
DOI:10.1038/s41436-020-00981-2
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
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