KEGG   VARIANT: 26047v1
Entry
26047v1                      Variant                               
Name
CNTNAP2 mutation
Type
Loss of function
Gene
CNTNAP2  contactin associated protein 2 [KO:K07380]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604569
Network
nt06546  IgSF CAM signaling
Disease
H00756  Pitt-Hopkins syndrome
H02111  Autism
Reference
  Authors
Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C
  Title
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
  Journal
J Med Genet 53:820-827 (2016)
DOI:10.1136/jmedgenet-2016-103880
Reference
  Authors
Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, Biederer T, Gunel M, Lifton RP, State MW
  Title
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
  Journal
Am J Hum Genet 82:165-73 (2008)
DOI:10.1016/j.ajhg.2007.09.017
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