Hereditary ataxia with onset in adulthood
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
On Sheffield but not Oxford panel. Sometimes requested by PG/MP in patients with dementia and ataxia.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
All OMIM phenotypes associated with ataxia or cerebellar abnormalitiesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple allelic disorders reported
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Autosomal Dominant Ataxia
- Multiple allelic disorders reported
- Huntington disease-like 1
- Gerstmann-Straussler disease
- Creutzfeldt-Jakob disease
- Insomnia, fatal familial
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset leukodystrophy
- Paroxysmal central nervous system disorders
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Familial dysautonomia
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Pain syndromes
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to PRNP.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Multiple allelic disorders reported for gene: PRNP
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PRNP.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to PRNP.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PRNP was added gene: PRNP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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 Gerstmann-Straussler disease; Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Insomnia, fatal familial; Huntington disease-like 1