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

Ambry Genetics classifications

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

ClinGen classifications

complex neurodevelopmental disorder
AR
06/15/2021
Evaluated
10/18/2023
Submitted
complex neurodevelopmental disorder
AD
03/16/2021
Evaluated
10/18/2023
Submitted

Illumina classifications

cortical dysplasia-focal epilepsy syndrome
AR
02/06/2018
Evaluated
10/15/2020
Submitted

Invitae classifications

cortical dysplasia-focal epilepsy syndrome
Submitted as: OMIM:610042
AR
05/22/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

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

G2P classifications

cortical dysplasia-focal epilepsy syndrome
Submitted as: OMIM:610042
AR
07/22/2015
Evaluated
09/11/2023
Submitted

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