Gene Symbol:
KCNQ2
HGNC:6296
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
20q13.33
Filters:

Definitive classifications

seizures, benign familial neonatal, 1
Submitted as: OMIM:121200
AD
07/22/2015
Evaluated
09/11/2023
Submitted
developmental and epileptic encephalopathy, 7
Submitted as: OMIM:613720
AD
07/22/2015
Evaluated
09/11/2023
Submitted
neonatal-onset developmental and epileptic encephalopathy
AD
06/21/2022
Evaluated
10/18/2023
Submitted
neonatal encephalopathy with non-epileptic myoclonus
AD
02/15/2022
Evaluated
10/18/2023
Submitted
complex neurodevelopmental disorder
AD
11/15/2021
Evaluated
10/18/2023
Submitted

Strong classifications

seizures, benign familial neonatal, 2
Submitted as: OMIM:121201
AD
08/18/2020
Evaluated
11/30/2023
Submitted
developmental and epileptic encephalopathy, 7
Submitted as: OMIM:613720
AD
05/09/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

benign neonatal seizures
Submitted as: Orphanet:1949
AD
09/14/2021
Evaluated
09/14/2021
Submitted
benign familial infantile epilepsy
Submitted as: Orphanet:306
AD
09/14/2021
Evaluated
09/14/2021
Submitted
benign familial neonatal-infantile seizures
Submitted as: Orphanet:140927
AD
09/14/2021
Evaluated
09/14/2021
Submitted
malignant migrating partial seizures of infancy
Submitted as: Orphanet:293181
AD
09/14/2021
Evaluated
09/14/2021
Submitted
developmental and epileptic encephalopathy, 7
Submitted as: Orphanet:439218
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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