PRNP

prion protein
OMIM: 176640, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Amber PRNP in Familial dysautonomia


Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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 1.48

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 2.39
Signed off v.2.23 on 8 Oct 2020

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 Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.207

    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 1.17

    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 1.9

    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 1.10
    Signed off v.1.2 on 27 Feb 2020

    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 Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    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
    • Autosomal Dominant Ataxia
    • Insomnia, fatal familial
    • Huntington disease-like 1
    • Clinical syndrome Prion disease
    • Dementia
    • Gerstmann-Straussler disease

    Green PRNP in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert Review

    Green PRNP in Hereditary ataxia - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    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 movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Cerebral amyloid angiopathy, PRNP-related 137440
    • Huntington disease-like 1 603218
    • Gerstmann-Straussler disease 137440
    • Creutzfeldt-Jakob disease 123400

    Red PRNP in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    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 or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Creutzfeldt-Jakob disease 123400
    • Huntington disease-like 1 603218
    • Cerebral amyloid angiopathy, PRNP-related 137440
    • Gerstmann-Straussler disease 137440

    Green PRNP in Severe Paediatric Disorders


    Version 1.43

    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