Adult onset leukodystrophy
Gene: PRNPEnsemblGeneIds (GRCh38): ENSG00000171867
EnsemblGeneIds (GRCh37): ENSG00000171867
OMIM: 176640, Gene2Phenotype
PRNP is in 15 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 5:56 p.m. | Last Modified: 30 Jan 2023, 5:56 p.m.
Panel Version: 2.46
Associated with relevant phenotype in OMIM (OMIM:137440), but not associated with a phenotype in Gen2Phen. Numberous PRNP variants have been reported for OMIM:137440.Created: 5 Jan 2023, 12:19 p.m. | Last Modified: 5 Jan 2023, 12:19 p.m.
Panel Version: 2.26
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 5 Jan 2023, 12:16 p.m. | Last Modified: 5 Jan 2023, 12:16 p.m.
Panel Version: 2.25
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Cerebral amyloid angiopathy, PRNP-related. Evidence: MIM: 137440.Created: 22 Dec 2022, 2:01 p.m. | Last Modified: 22 Dec 2022, 2:03 p.m.
Panel Version: 2.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cerebral amyloid angiopathy,PRNP-related
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Cerebral amyloid angiopathy, PRNP-related, OMIM:137440
- Gerstmann-Straussler disease, OMIM:137440
- Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
- OMIM
- 176640
- Clinvar variants
- Variants in PRNP
- Penetrance
- None
- 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
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: PRNP. Tag Q1_23_NHS_review was removed from gene: PRNP.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to PRNP. Source NHS GMS was added to PRNP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: PRNP. Tag Q1_23_NHS_review tag was added to gene: PRNP.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: prnp has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PRNP were changed from to Cerebral amyloid angiopathy, PRNP-related, OMIM:137440; Gerstmann-Straussler disease, OMIM:137440; Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PRNP was added gene: PRNP was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: PRNP was set to