Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Ataxia - adult onset v0.176 | PRNP | Bryony Thompson Marked gene: PRNP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.176 | PRNP | Bryony Thompson Gene: prnp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.176 | PRNP | Bryony Thompson Publications for gene: PRNP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.175 | PRNP | Bryony Thompson reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 2564168, 34324063, 20301407; Phenotypes: Inherited Creutzfeldt-Jakob disease MONDO:0007403, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia - adult onset v0.0 | PRNP |
Bryony Thompson gene: PRNP was added gene: PRNP was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRNP were set to Multiple allelic disorders reported; Huntington disease-like 1; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Insomnia, fatal familial; Creutzfeldt-Jakob disease |