Paroxysmal central nervous system disorders

Gene: PRNP

Red List (low evidence)

PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 13 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted PRNP from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:18 p.m. | Last Modified: 9 Sep 2019, 3:18 p.m.
Panel Version: 0.60
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Prion disease - not appropriate to include in this panel?
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cerebral amyloid angiopathy, PRNP-related, 137440

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

9 Sep 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PRNP were changed from Cerebral amyloid angiopathy, PRNP-related to Cerebral amyloid angiopathy, PRNP-related, 137440

9 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: PRNP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PRNP.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to PRNP.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PRNP.

3 Jan 2019, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Cerebral amyloid angiopathy, PRNP-related for gene: PRNP

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PRNP was added gene: PRNP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 25287017; 27716661; 26768678; 24224623 Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related