PRNP

prion protein
OMIM: 176640, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Amber PRNP in Familial dysautonomia Version 1.17	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Insomnia, fatal familial 600072
Green PRNP in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Dementia Clinical syndrome Prion disease
Green PRNP in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Creutzfeldt-Jakob disease Autosomal Dominant Ataxia Gerstmann-Straussler disease Huntington disease-like 1 Insomnia, fatal familial
Green PRNP in Adult onset leukodystrophy Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert list Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440 Gerstmann-Straussler disease, OMIM:137440 Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
Green PRNP in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Autosomal Dominant Ataxia Creutzfeldt-Jakob disease Gerstmann-Straussler disease Huntington disease-like 1 Insomnia, fatal familial
Green PRNP in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Cerebral amyloid angiopathy, PRNP-related 137440 Gerstmann-Straussler disease 137440 Huntington disease-like 1 603218 Creutzfeldt-Jakob disease 123400
Green PRNP in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440
Red PRNP in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440
Green PRNP in Adult onset hereditary spastic paraplegia Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Gerstmann-Straussler disease, OMIM: 137440 Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
Green PRNP in Adult onset neurodegenerative disorder Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Phenotypes Creutzfeldt-Jakob disease, OMIM:123400 Huntington disease-like 1, OMIM:603218 Dementia Gerstmann-Straussler disease, OMIM:137440
Green PRNP in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Expert Review
Green PRNP in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Autosomal Dominant Ataxia Multiple allelic disorders reported Huntington disease-like 1 Gerstmann-Straussler disease Creutzfeldt-Jakob disease Insomnia, fatal familial
Green PRNP in Adult onset dystonia, chorea or related movement disorder Version 3.19 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Expert Review Green Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440 Huntington disease-like 1, OMIM:603218 Gerstmann-Straussler disease, OMIM:137440 Creutzfeldt-Jakob disease, OMIM:123400
Red PRNP in Hereditary neuropathy or pain disorder Version 4.10 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review London North GLH NHS GMS NHS GMS London North GLH
Green PRNP in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green PanelApp London North GLH Phenotypes Cerebral amyloid angiopathy, PRNP-related, OMIM:137440 Huntington disease-like 1, OMIM:603218 Gerstmann-Straussler disease, OMIM:137440 Creutzfeldt-Jakob disease, OMIM:123400 Tags Q1_24_demote_red Q1_24_expert_review
Green PRNP in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Creutzfeldt-Jakob disease, 123400 Huntington disease-like 1, 603218 Insomnia, fatal familial, 600072 Prion disease with protracted course, 606688 Cerebral amyloid angiopathy, PRNP-related, 137440 Gerstmann-Straussler disease, 137440