Adult onset hereditary spastic paraplegia
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.Created: 4 May 2024, 4:56 p.m. | Last Modified: 4 May 2024, 5 p.m.
Panel Version: 4.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh (Genomics England Curator)
Amongst the variable phenotypes seen in carriers of PRNP variants, features of Gerstmann-Straussler disease (OMIM: 137440) have been associated with eight PRNP variants in unrelated cases (p.P105L, p.D178N, p.P102L, p.A117V, p.F198S, p.Q217R, p.G131V, p.H187R (PMIDs: 7902971, 1699173, 1363810, 11709001, 7902972, 19228673).Created: 8 Jun 2023, 11:22 a.m. | Last Modified: 8 Jun 2023, 11:22 a.m.
Panel Version: 3.10
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 8 Jun 2023, 11:02 a.m. | Last Modified: 8 Jun 2023, 11:02 a.m.
Panel Version: 3.7
Phenotypes
Gerstmann-Straussler disease, OMIM: 137440
James Polke (North Thames GLH)
HSP can be a rare presenting phenotype for some individuals with inherited prion disease.
Sources: NHS GMSCreated: 31 May 2023, 12:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HSP; Gerstmann–Sträussler–Scheinker disease
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Gerstmann-Straussler disease, OMIM: 137440
- Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_23_promote_green was removed from gene: PRNP.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to PRNP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350; 16227536; 19228673; 1699173; 7902971; 11709001; 10581485; 10953183; 1363810
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350; 16227536; 19228673; 1699173; 7902971; 11709001; 10581485; 10953183
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PRNP were changed from Gerstmann-Straussler disease, OMIM: 137440 to Gerstmann-Straussler disease, OMIM: 137440; Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: prnp has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350; 16227536; 19228673
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_23_promote_green tag was added to gene: PRNP.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PRNP were changed from HSP; Gerstmann–Sträussler–Scheinker disease to Gerstmann-Straussler disease, OMIM: 137440
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
James Polke (North Thames GLH)gene: PRNP was added gene: PRNP was added to Adult onset hereditary spastic paraplegia. Sources: NHS GMS Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRNP were set to 30240140; 8250529; 34746379; 28195350 Phenotypes for gene: PRNP were set to HSP; Gerstmann–Sträussler–Scheinker disease Penetrance for gene: PRNP were set to Complete Mode of pathogenicity for gene: PRNP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PRNP was set to GREEN gene: PRNP was marked as current diagnostic