PRNP

prion protein
OMIM: 176640, ClinGen, DECIPHER

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 1.29 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	1 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 2.10 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	1 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 0.318	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PRNP in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	1 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 0.143 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 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 1.19 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	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	0 reviews	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	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 1.29 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 0.168	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