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Research panel - Severe Paediatric Disorders

Gene: PRNP

Red List (low evidence)
PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

The phenotypes associated with PRNP variants are adult onset, therefore, this gene should not be green on this paedriatric panel, additionally, there is a risk of incidental findings being reported in children.
Created: 2 Sep 2024, 5:25 p.m. | Last Modified: 2 Sep 2024, 5:31 p.m.
Panel Version: 1.193
Created: 2 Sep 2024, 5:25 p.m.
Last Modified: 2 Sep 2024, 5:31 p.m.
Panel version: 1.192

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
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
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
  • Expert Review Red
  • Next Generation Children Project
  • 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
Variants in PRNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2024, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: prnp has been classified as Red List (Low Evidence).

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PRNP were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: PRNP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: PRNP

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added 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 for gene: PRNP

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebral amyloid angiopathy, PRNP-related, 137440; Prion disease with protracted course, 606688; Insomnia, fatal familial, 600072; Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Gerstmann-Straussler disease, 137440 for gene: PRNP

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to PRNP.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to PRNP. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PRNP was added gene: PRNP was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PRNP was set to