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Severe Paediatric Disorders

Gene: PRNP

Green List (high evidence)

PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 16 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

This gene appears to be associated with adult onset neurodegenerative conditions and therefore I am not sure it should be green on a paediatric panel
Created: 18 Apr 2024, 2:23 p.m. | Last Modified: 18 Apr 2024, 2:23 p.m.
Panel Version: 1.184

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PRNP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebral amyloid angiopathy, PRNP-related, 137440 (3) | Creutzfeldt-Jakob disease, 123400 (3) | Gerstmann-Straussler disease, 137440 (3) | Huntington disease-like 1, 603218 (3) | Insomnia, fatal familial, 600072 (3) | Prion disease with protracted course, 606688 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
176640
Clinvar variants