| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset neurodegenerative disorder v2.118 | PRNP | Ivone Leong Phenotypes for gene: PRNP were changed from Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Insomnia, fatal familial; Huntington disease-like 1; Clinical syndrome Prion disease; Dementia; Gerstmann-Straussler disease to Creutzfeldt-Jakob disease, OMIM:123400; Huntington disease-like 1, OMIM:603218; Dementia; Gerstmann-Straussler disease, OMIM:137440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | PRNP | Louise Daugherty commented on gene: PRNP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.100 | PRNP | Louise Daugherty Source Wessex and West Midlands GLH was added to PRNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | PRNP | Tracy Lester reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | PRNP | Louise Daugherty Publications for gene PRNP were changed from 20583301; 26791950 to 20583301; 10953183; 26791950; 16831973 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | PRNP | Louise Daugherty commented on gene: PRNP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | PRNP | Nick Beauchamp reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10953183, 16831973; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | PRNP | Louise Daugherty Source Yorkshire and North East GLH was added to PRNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | PRNP | Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | PRNP | James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | PRNP | Louise Daugherty Source NHS GMS was added to PRNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | PRNP | Louise Daugherty Source London North GLH was added to PRNP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | PRNP | Rebecca Foulger Added phenotypes Clinical syndrome Prion disease; Dementia for gene: PRNP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | PRNP |
Rebecca Foulger gene: PRNP was added gene: PRNP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRNP were set to 20583301; 26791950 Phenotypes for gene: PRNP were set to Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial |
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