CNTNAP2

contactin associated protein like 2
OMIM: 604569
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome, Pitt-Hopkins like syndrome 1
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical dysplasia-focal epilepsy syndrome, 610042{Autism susceptibility 15}, 612100Pitt-Hopkins like syndrome 1, 610042, CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME (CDFES)