Adult onset dystonia, chorea or related movement disorder
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Comment on phenotypes: This gene is also associated with {Kuru, susceptibility to}, OMIM:245300; Insomnia, fatal familial, OMIM:600072; Spongiform encephalopathy with neuropsychiatric features, OMIM:606688Created: 29 Mar 2021, 2:34 p.m. | Last Modified: 29 Mar 2021, 2:34 p.m.
Panel Version: 1.77
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Cerebral amyloid angiopathy, PRNP-related, OMIM:137440
- Huntington disease-like 1, OMIM:603218
- Gerstmann-Straussler disease, OMIM:137440
- Creutzfeldt-Jakob disease, OMIM:123400
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Adult onset leukodystrophy
- Ataxia and cerebellar anomalies - narrow panel
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Familial dysautonomia
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PRNP were changed from Cerebral amyloid angiopathy, PRNP-related 137440; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Creutzfeldt-Jakob disease 123400 to Cerebral amyloid angiopathy, PRNP-related, OMIM:137440; Huntington disease-like 1, OMIM:603218; Gerstmann-Straussler disease, OMIM:137440; Creutzfeldt-Jakob disease, OMIM:123400
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PRNP.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PRNP.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PRNP was added gene: PRNP was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRNP were set to Cerebral amyloid angiopathy, PRNP-related 137440; Huntington disease-like 1 603218; Gerstmann-Straussler disease 137440; Creutzfeldt-Jakob disease 123400