PRRT2

proline rich transmembrane protein 2
OMIM: 614386
PanelMode of inheritanceDetails
7 panels
R-numbers: R56
Signed-off version 1.14
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SEIZURES, BENIGN FAMILIAL INFANTILE, 2, episodic kinesigenic dyskinesia, EPISODIC KINESIGENIC DYSKINESIA 1, dystonia and occasionally hemiplegic migraine and epilepsy, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751
R-numbers: R57
Signed-off version 1.58
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, dystonia and occasionally hemiplegic migraine and epilepsy, Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions, episodic kinesigenic dyskinesia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION, BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Convulsions, familial infantile, with paroxysmal choreoathetosis, Episodic kinesigenic dyskinesia 1, Seizures, benign familial infantile, 2, BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, EPISODIC KINESIGENIC DYSKINESIA 1, Familial infantile convulsions with paroxysmal dyskinesia 1, 602066, dystonia and occasionally hemiplegic migraine and epilepsy, episodic kinesigenic dyskinesia, episodic kinesigenic dyskinesia, 128200
R-numbers: R66
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Seizures, benign familial infantile, 2, 605751, dystonia and occasionally hemiplegic migraine and epilepsy, Episodic kinesigenic dyskinesia 1, 128200, Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066