Ataxia and cerebellar anomalies - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Creutzfeldt-Jakob disease
- Autosomal Dominant Ataxia
- Gerstmann-Straussler disease
- Huntington disease-like 1
- Insomnia, fatal familial
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- 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 neuropathy or pain disorder
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult 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
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PRNP was added gene: PRNP was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRNP were set to Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial