Activity

Filter

Cancel
Date Panel Item Activity
31 actions
Adult onset neurodegenerative disorder v4.33 JPH3_CTG Eleanor Williams commented on STR: JPH3_CTG
Adult onset neurodegenerative disorder v4.33 JPH3_CTG Eleanor Williams Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset neurodegenerative disorder v4.33 JPH3_CTG Eleanor Williams Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v4.32 JPH3_CTG Eleanor Williams Tag watchlist was removed from STR: JPH3_CTG.
Tag Q3_23_promote_green was removed from STR: JPH3_CTG.
Adult onset neurodegenerative disorder v4.28 JPH3_CTG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v4.28 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.
Adult onset neurodegenerative disorder v4.28 JPH3_CTG Sarah Leigh edited their review of STR: JPH3_CTG: Added comment: It is recommended this STR be promoted to Green following GMS review as the testing method for this clinicial indication is now WGS.; Changed rating: GREEN
Adult onset neurodegenerative disorder v2.267 JPH3_CTG Sarah Leigh commented on STR: JPH3_CTG
Adult onset neurodegenerative disorder v2.264 JPH3_CTG Arina Puzriakova Pathogenic Number of Repeats for JPH3_CTG was changed from 41 to 40.
Adult onset neurodegenerative disorder v2.228 JPH3 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Adult onset neurodegenerative disorder v2.228 JPH3 Arina Puzriakova Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Adult onset neurodegenerative disorder v2.227 JPH3 Arina Puzriakova Phenotypes for gene: JPH3 were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Adult onset neurodegenerative disorder v2.226 JPH3_CTG Arina Puzriakova Phenotypes for STR: JPH3_CTG were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
Adult onset neurodegenerative disorder v2.225 JPH3_CTG Arina Puzriakova Tag watchlist tag was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v2.20 JPH3_CTG Arina Puzriakova Classified STR: JPH3_CTG as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v2.20 JPH3_CTG Arina Puzriakova Str: jph3_ctg has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v1.75 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Mean age of onset 35-40 years.
Adult onset neurodegenerative disorder v1.75 JPH3_CTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v1.74 JPH3 Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.72 JPH3 Nick Beauchamp reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease-like 2 606438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.69 JPH3 Louise Daugherty Source NHS GMS was added to JPH3.
Adult onset neurodegenerative disorder v1.67 JPH3 Louise Daugherty Source Yorkshire and North East GLH was added to JPH3.
Adult onset neurodegenerative disorder v1.59 JPH3_CTG Louise Daugherty Source NHS GMS was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v1.57 JPH3_CTG Louise Daugherty Source London North GLH was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v1.13 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v0.52 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.52 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.51 JPH3_CTG Louise Daugherty STR: JPH3_CTG was added
STR: JPH3_CTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: JPH3_CTG.
Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438
Review for STR: JPH3_CTG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Early onset dystonia v1.76.
Sources: Expert list
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: JPH3.
Tag currently-ngs-unreportable tag was added to gene: JPH3.
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger Added phenotypes Huntington disease-like 2 606438 for gene: JPH3
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger gene: JPH3 was added
gene: JPH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH3 were set to Huntington disease-like 2 606438