Genomics England

PRRT2

proline rich transmembrane protein 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION, BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Episodic kinesigenic dyskinesia 1, OMIM:128200, Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes PRRT2-associated paroxysmal movement disorder, MONDO:0100556, 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 Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes PRRT2-associated paroxysmal movement disorder, MONDO:0100556, 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
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	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
Green in Paroxysmal central nervous system disorders R-numbers: R66 Signed-off version 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PRRT2-associated paroxysmal movement disorder, MONDO:0100556, 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