PRNP

prion protein
OMIM: 176640, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green PRNP in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Prion Disease (MIM#176640) Creutzfeldt-Jakob disease (MIM#123400)
Green PRNP in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes inherited Creutzfeldt-Jakob disease MONDO:0007403 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656
Green PRNP in Incidentalome Version 0.301	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRNP in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.16 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 Phenotypes Multiple allelic disorders reported Huntington disease-like 1 Autosomal Dominant Ataxia Gerstmann-Straussler disease Insomnia, fatal familial Creutzfeldt-Jakob disease
Green PRNP in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.140 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes fatal familial insomnia MONDO:0010808
Green PRNP in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.14 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Prion diseases peripheral neuropathy chronic diarrhea dementia
Green PRNP in Pain syndromes Level 2: Neurology and neurodevelopmental disorders Version 0.34 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440
Green PRNP in Cerebral amyloid angiopathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes PrP systemic amyloidosis MONDO:0018339
Green CJD STR in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440
Green CJD STR in Repeat Disorders Version 0.167	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags adult-onset