KEGG   VARIANT: 10297v1
Entry
10297v1                      Variant                               
Name
APC2 mutation
Type
Loss of function
Gene
APC2  APC regulator of WNT signaling pathway 2 [KO:K02085]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612034
Network
nt06541  Cytoskeleton in neurons
Disease
H00768  Autosomal recessive intellectual developmental disorder
H01881  Complex cortical dysplasia with other brain malformations
Reference
  Authors
Almuriekhi M, Shintani T, Fahiminiya S, Fujikawa A, Kuboyama K, Takeuchi Y, Nawaz Z, Nadaf J, Kamel H, Kitam AK, Samiha Z, Mahmoud L, Ben-Omran T, Majewski J, Noda M
  Title
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.
  Journal
Cell Rep 10:1585-1598 (2015)
DOI:10.1016/j.celrep.2015.02.011
Reference
  Authors
Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG
  Title
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
  Journal
Am J Hum Genet 105:844-853 (2019)
DOI:10.1016/j.ajhg.2019.08.013
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