Hereditary ataxia
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Discussed internally and promoted to green. This gene is on the Autosomal Dominant Ataxia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual. Variant tanderm octapeptide coding repeats have been reported as pathogenic, as well as multiple missense variants, in OMIM. Several missense variants previously reported have been reclassified.Created: 23 Aug 2016, 9:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Autosomal Dominant Ataxia
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Autosomal Dominant Ataxia
- Creutzfeldt-Jakob disease
- Gerstmann-Straussler disease
- Huntington disease-like 1
- Insomnia, fatal familial
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Neurodegenerative disorders, adult onset
- 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
- 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
23 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Aug 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PRNP were set to Autosomal Dominant Ataxia;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Huntington disease-like 1;Insomnia, fatal familial
23 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
23 Aug 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Aug 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PRNP was added to Hereditary ataxiapanel. Sources: Expert list
23 Aug 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PRNP was created by ellenmcdonagh