Structural basal ganglia disorders
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
Manju Kurian (UCL-Institute of Child Health)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cerebral amyloid angiopathy, PRNP-related 137440
- Gerstmann-Straussler disease 137440
- Huntington disease-like 1 603218
- Creutzfeldt-Jakob disease 123400
- 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
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Pain syndromes
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
History Filter Activity
16 Mar 2017, Gel status: 3
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
7 Sep 2016, Gel status: 3
Added New Source
Sarah Leigh (Genomics England Curator)PRNP was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
7 Sep 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)PRNP was added to Structural basal ganglia disorderspanel. Source: UKGTN
7 Sep 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)PRNP was added to Structural basal ganglia disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
7 Sep 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)PRNP was created by sleigh