Paroxysmal central nervous system disorders
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
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)
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
Details
- Mode of Inheritance
- 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
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Familial dysautonomia
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: prnp has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: prnp has been classified as Red List (Low Evidence).
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
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
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to PRNP.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PRNP.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to PRNP.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Cerebral amyloid angiopathy, PRNP-related for gene: PRNP
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