PRRT2 Chromosome 16

Proline rich transmembrane protein 2
159 variants 159 Health Risk

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What This Gene Does
This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Dispanins
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000167371
Associated Conditions (21)
Episodic kinesigenic dyskinesia
Inborn genetic diseases
PRRT2-related disorder
Seizures
benign familial infantile
2
Episodic kinesigenic dyskinesia 1
Infantile convulsions and choreoathetosis
PRRT2-associated paroxysmal movement disorder
Seizure
Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis
Benign familial neonatal-infantile seizures 1
Paroxysmal nonkinesigenic dyskinesia 1
PRRT2 insufficiency
PRRT2-Associated Paroxysmal Movement Disorders
Neurodevelopmental delay
Self-limited familial infantile epilepsy
See cases
Convulsions
Autosomal dominant PRRT2-related disorders
+1 more conditions
Key Variants
RS1053144630
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS1057518890
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS11556732
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, PRRT2-related disorder
Health Risk
RS1301400509
Conflicting classifications of pathogenicity
Seizures, benign familial infantile, 2
Health Risk
RS1317648011
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS1319381076
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS140383655
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Seizures
Health Risk
RS144540943
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
Health Risk
RS1468206811
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
RS147004110
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
RS1555502624
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
RS200185554
Conflicting classifications of pathogenicity
Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
Health Risk
All Variants (159)
RSID Category Clinical Significance Conditions
RS1555502574 Health Risk Likely pathogenic —
RS1555502665 Health Risk Likely pathogenic Infantile convulsions and choreoathetosis, Infantile convulsions and choreoathetosis
RS1567379016 Health Risk Likely pathogenic Seizures, benign familial infantile, 2
RS1567380135 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596891528 Health Risk Likely pathogenic —
RS1596894089 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900077598 Health Risk Likely pathogenic Seizures, benign familial infantile, 2
RS2142427391 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2142429320 Health Risk Likely pathogenic —
RS2543333664 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS2543334077 Health Risk Likely pathogenic Seizures, benign familial infantile, 2
RS2543334133 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS2543336371 Health Risk Likely pathogenic Seizures, benign familial infantile, 2
RS2543339445 Health Risk Likely pathogenic Seizures, benign familial infantile, 2
RS796052936 Health Risk Likely pathogenic —
RS796052938 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia, Seizure, Episodic kinesigenic dyskinesia
RS1064793851 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
RS1217390170 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1244255905 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1351701416 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1403034524 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS1555502708 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS1555502908 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1567379819 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1567380076 Health Risk Pathogenic Infantile convulsions and choreoathetosis, Infantile convulsions and choreoathetosis
RS1596889984 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596890692 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596892401 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596892633 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596893055 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596893071 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1596893185 Health Risk Pathogenic Seizures, benign familial infantile, 2
RS1596893952 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Infantile convulsions and choreoathetosis, Episodic kinesigenic dyskinesia
RS1900052727 Health Risk Pathogenic Seizures, benign familial infantile, 2
RS1900057283 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900067836 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900074141 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
RS1900085480 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900093244 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900100925 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1900111672 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Seizure, Episodic kinesigenic dyskinesia
RS1900137777 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Inborn genetic diseases, Episodic kinesigenic dyskinesia
RS1900139189 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2142422901 Health Risk Pathogenic —
RS2142423194 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2142423439 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2142424961 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2142425167 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2142425196 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS2142425874 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
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