Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: PRNP
PRNP (prion protein)
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
2 reviews
simon mead (UCL)
Caroline Wright (Genomics England Curator)
Comment on list classification: Prion disease gene, in eligibility criteriaCreated: 10 May 2016, 12:41 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Dementia
- Clinical syndrome Prion disease
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Neurodegenerative disorders, adult onset
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - childhood onset
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary ataxia
- Hereditary ataxia, adult onset
- Familial dysautonomia
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Pain syndromes
- Paroxysmal central nervous system disorders
- Leukodystrophy, adult onset
- Hereditary spastic paraplegia, adult onset
History Filter Activity
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
10 May 2016, Gel status: 4
Set publications
Caroline Wright (Genomics England Curator)Publications for PRNP were set to 26791950;20583301
10 May 2016, Gel status: 4
Set Mode of Inheritance
Caroline Wright (Genomics England Curator)Mode of inheritance for PRNP was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
10 May 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PRNP was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Eligibility statement prior genetic testing
27 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PRNP was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: UKGTN