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

Definitive classifications

infantile convulsions and choreoathetosis
Submitted as: OMIM:602066
AD
07/22/2015
Evaluated
11/25/2020
Submitted
infantile convulsions and choreoathetosis
AD
01/21/2020
Evaluated
08/16/2021
Submitted

Strong classifications

seizures, benign familial infantile, 2
Submitted as: OMIM:605751
AD
02/18/2021
Evaluated
03/31/2021
Submitted
episodic kinesigenic dyskinesia 1
Submitted as: OMIM:128200
AD
02/18/2021
Evaluated
03/31/2021
Submitted
infantile convulsions and choreoathetosis
Submitted as: OMIM:602066
AD
02/18/2021
Evaluated
03/31/2021
Submitted

Supportive classifications

familial or sporadic hemiplegic migraine
Submitted as: Orphanet:569
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
infantile convulsions and choreoathetosis
Submitted as: Orphanet:31709
AD
09/14/2021
Evaluated
09/14/2021
Submitted
episodic kinesigenic dyskinesia 1
Submitted as: Orphanet:98809
AD
09/14/2021
Evaluated
09/14/2021
Submitted
paroxysmal nonkinesigenic dyskinesia 1
Submitted as: Orphanet:98810
AD
09/14/2021
Evaluated
09/14/2021
Submitted
childhood onset GLUT1 deficiency syndrome 2
Submitted as: Orphanet:98811
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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