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Parkinson Disease and Complex Parkinsonism v1.105 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.101 C9orf72_GGGGCC Arina Puzriakova Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.94 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Source NHS GMS was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Parkinson Disease and Complex Parkinsonism v1.81 C9orf72_GGGGCC Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Parkinson Disease and Complex Parkinsonism v1.80 C9orf72 Arina Puzriakova Phenotypes for gene: C9orf72 were changed from (Hexanucleotideexpansion); clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Parkinson Disease and Complex Parkinsonism v1.79 C9orf72 Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Parkinson Disease and Complex Parkinsonism v1.79 C9orf72 Arina Puzriakova Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Parkinson Disease and Complex Parkinsonism v1.78 C9orf72 Arina Puzriakova Tag currently-ngs-unreportable tag was added to gene: C9orf72.
Parkinson Disease and Complex Parkinsonism v1.58 C9orf72_GGGGCC Arianna Tucci Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.46 C9orf72_GGGGCC Arianna Tucci Marked STR: C9orf72_GGGGCC as ready
Parkinson Disease and Complex Parkinsonism v1.46 C9orf72_GGGGCC Arianna Tucci Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism v1.46 C9orf72_GGGGCC Arianna Tucci Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.46 C9orf72_GGGGCC Arianna Tucci Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh commented on STR: C9orf72_GGGGCC
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh Added STR to panel
Parkinson Disease and Complex Parkinsonism C9ORF72 Louise Daugherty classified C9ORF72* as red
Parkinson Disease and Complex Parkinsonism C9ORF72 Ellen McDonagh classified C9ORF72* as grey
Parkinson Disease and Complex Parkinsonism C9ORF72 Ellen McDonagh commented on C9ORF72*
Parkinson Disease and Complex Parkinsonism C9orf72 Arianna Tucci reviewed C9orf72
Parkinson Disease and Complex Parkinsonism C9ORF72 Arianna Tucci reviewed C9ORF72*
Parkinson Disease and Complex Parkinsonism C9orf72 Ellen McDonagh marked C9orf72 as ready