Adult onset leukodystrophy
Gene: PRNP
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
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
Tag Q1_23_promote_green was removed from gene: PRNP. Tag Q1_23_NHS_review was removed from gene: PRNP.
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)
Tag Q1_23_promote_green tag was added to gene: PRNP. Tag Q1_23_NHS_review tag was added to gene: PRNP.
Mode of inheritance for gene: PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: prnp has been classified as Amber List (Moderate Evidence).
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
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