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
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Familial dysautonomia
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
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