Pain syndromes
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
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:35 a.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green following Dave Bennett's commentsCreated: 19 Sep 2017, 10:58 a.m.
Expert reviewer comments (Dave Bennett): A relatively recently described syndrome in which truncated forms of Prion are secreted and deposited inn peripheral nerves and tissues. This can result in the early stages in a clinical picture of hereditary sensory and autonomic neuropathy, with early onset diarrhoea and at later stages cognitive problems develop.Created: 19 Sep 2017, 10:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebral amyloid angiopathy, PRNP-related 137440
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cerebral amyloid angiopathy, PRNP-related, 137440
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary neuropathy or pain disorder
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Familial dysautonomia
- Leukodystrophy, adult onset
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Pain syndromes
- Paroxysmal central nervous system disorders
- Hereditary spastic paraplegia, adult onset
History Filter Activity
19 Sep 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
19 Sep 2017, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PRNP were set to Cerebral amyloid angiopathy, PRNP-related, 137440
19 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Sep 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Sep 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)PRNP was added to Pain syndromespanel. Sources: Expert Review
19 Sep 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)PRNP was created by arianna