PRRT2

proline rich transmembrane protein 2
OMIM: 614386, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PRRT2 in Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Version 0.57	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 Episodic kinesigenic dyskinesia 1, 128200 Seizures, benign familial infantile, 2, 605751
Green PRRT2 in Brain Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.3 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 Episodic kinesigenic dyskinesia 1 128200 Seizures, benign familial infantile, 2 605751
Green PRRT2 in Mendeliome Version 1.2374	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 Episodic kinesigenic dyskinesia 1 128200 Seizures, benign familial infantile, 2 605751
Green PRRT2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 Episodic kinesigenic dyskinesia 1 128200 Seizures, benign familial infantile, 2 605751
Green PRRT2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.573	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber PRRT2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066 Episodic kinesigenic dyskinesia 1, MIM# 128200 Seizures, benign familial infantile, 2, MIM# 605751 intellectual disability, autosomal recessive
Green PRRT2 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.141 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis 602066 Episodic kinesigenic dyskinesia 1 128200 Seizures, benign familial infantile, 2 605751
Green PRRT2 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.20 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS episodic kinesigenic dyskinesia dystonia and occasionally hemiplegic migraine and epilepsy episodic kinesigenic dyskinesia, 128200 EPISODIC KINESIGENIC DYSKINESIA 1 SEIZURES, BENIGN FAMILIAL INFANTILE, 2
Green PRRT2 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Episodic kinesigenic dyskinesia 1 MIM#128200 Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066 Seizures, benign familial infantile, 2 MIM#605751
Green PRRT2 in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.39 Component of the following Super Panels: Dystonia_Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Episodic kinesigenic dyskinesia 1, MIM# 128200 MONDO:0007494
Red PRRT2 in Fetal anomalies Version 1.314	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066 Episodic kinesigenic dyskinesia 1, MIM# 128200 Seizures, benign familial infantile, 2, MIM# 605751 intellectual disability, autosomal recessive