Gene Symbol:
PRRT2
HGNC:30500
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p11.2
Filters:

Benign familial infantile epilepsy classifications

benign familial infantile epilepsy
Submitted as: Orphanet:306
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Childhood onset GLUT1 deficiency syndrome 2 classifications

childhood onset GLUT1 deficiency syndrome 2
Submitted as: Orphanet:98811
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Episodic kinesigenic dyskinesia 1 classifications

episodic kinesigenic dyskinesia 1
Submitted as: OMIM:128200
AD
02/18/2021
Evaluated
03/31/2021
Submitted
episodic kinesigenic dyskinesia 1
Submitted as: Orphanet:98809
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Episodic kinesigenic dyskinesia 1 classifications

episodic kinesigenic dyskinesia 1
Submitted as: OMIM:128200
AD
07/16/2020
Evaluated
11/30/2023
Submitted

Familial or sporadic hemiplegic migraine classifications

familial or sporadic hemiplegic migraine
Submitted as: Orphanet:569
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Infantile convulsions and choreoathetosis classifications

infantile convulsions and choreoathetosis
Submitted as: OMIM:602066
AD
07/22/2015
Evaluated
09/11/2023
Submitted
infantile convulsions and choreoathetosis
Submitted as: OMIM:602066
AD
02/18/2021
Evaluated
03/31/2021
Submitted
infantile convulsions and choreoathetosis
Submitted as: Orphanet:31709
AD
09/14/2021
Evaluated
09/14/2021
Submitted
infantile convulsions and choreoathetosis
AD
01/21/2020
Evaluated
10/18/2023
Submitted

Paroxysmal nonkinesigenic dyskinesia 1 classifications

paroxysmal nonkinesigenic dyskinesia 1
Submitted as: Orphanet:98810
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Seizures, benign familial infantile, 2 classifications

seizures, benign familial infantile, 2
Submitted as: OMIM:605751
AD
02/18/2021
Evaluated
03/31/2021
Submitted
seizures, benign familial infantile, 2
Submitted as: OMIM:605751
AD
06/08/2023
Evaluated
11/30/2023
Submitted

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