Gene Symbol:
CNTNAP2
HGNC:13830
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
7q35-q36.1
Filters:

Definitive classifications

cortical dysplasia-focal epilepsy syndrome
AR
02/06/2018
Evaluated
10/15/2020
Submitted
cortical dysplasia-focal epilepsy syndrome
Submitted as: OMIM:610042
AR
07/22/2015
Evaluated
11/25/2020
Submitted
complex neurodevelopmental disorder
AR
06/15/2021
Evaluated
08/16/2021
Submitted

Strong classifications

Pitt-Hopkins-like syndrome
Submitted as: OMIM:610042
AR
06/25/2020
Evaluated
02/03/2022
Submitted

Moderate classifications

cortical dysplasia-focal epilepsy syndrome
Submitted as: OMIM:610042
AR
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

cortical dysplasia-focal epilepsy syndrome
Submitted as: Orphanet:163681
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

complex neurodevelopmental disorder
AD
03/16/2021
Evaluated
08/16/2021
Submitted

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