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| Adult onset leukodystrophy v2.46 | PRNP |
Sarah Leigh Tag Q1_23_promote_green was removed from gene: PRNP. Tag Q1_23_NHS_review was removed from gene: PRNP. |
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| Adult onset leukodystrophy v2.46 | PRNP | Sarah Leigh commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.45 | PRNP |
Sarah Leigh 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) |
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| Adult onset leukodystrophy v2.26 | PRNP | Sarah Leigh edited their review of gene: PRNP: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.26 | PRNP |
Sarah Leigh Tag Q1_23_promote_green tag was added to gene: PRNP. Tag Q1_23_NHS_review tag was added to gene: PRNP. |
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| Adult onset leukodystrophy v2.26 | PRNP | Sarah Leigh Mode of inheritance for gene: PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.25 | PRNP | Sarah Leigh Classified gene: PRNP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.25 | PRNP | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.25 | PRNP | Sarah Leigh Gene: prnp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.24 | PRNP | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.3 | PRNP | Eleanor Williams changed review comment from: 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.3 | PRNP | Eleanor Williams reviewed gene: PRNP: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy,PRNP-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset leukodystrophy v2.2 | PRNP |
Eleanor Williams 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 |
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