Gene Symbol:
KCNMA1
HGNC:6284
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q22.3
Filters:

Definitive classifications

generalized epilepsy-paroxysmal dyskinesia syndrome
Submitted as: OMIM:609446
AD
07/22/2015
Evaluated
09/11/2023
Submitted
generalized epilepsy-paroxysmal dyskinesia syndrome
AD
03/08/2022
Evaluated
04/21/2024
Submitted

Strong classifications

generalized epilepsy-paroxysmal dyskinesia syndrome
AD
03/12/2021
Evaluated
12/15/2022
Submitted
generalized epilepsy-paroxysmal dyskinesia syndrome
Submitted as: OMIM:609446
AD
03/15/2020
Evaluated
11/30/2023
Submitted
cerebellar atrophy, developmental delay, and seizures
Submitted as: OMIM:617643
AR
03/15/2020
Evaluated
11/30/2023
Submitted

Moderate classifications

generalized epilepsy-paroxysmal dyskinesia syndrome
Submitted as: OMIM:609446
AD
02/22/2018
Evaluated
03/02/2021
Submitted
generalized epilepsy-paroxysmal dyskinesia syndrome
AR
03/08/2022
Evaluated
04/21/2024
Submitted

Supportive classifications

generalized epilepsy-paroxysmal dyskinesia syndrome
Submitted as: Orphanet:79137
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Liang-Wang syndrome
Submitted as: OMIM:618729
AD
01/02/2020
Evaluated
03/02/2021
Submitted

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