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| Adult onset neurodegenerative disorder v2.267 | C9orf72_GGGGCC | Eleanor Williams commented on STR: C9orf72_GGGGCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.264 | 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. |
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| Adult onset neurodegenerative disorder v2.220 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.75 | C9orf72_GGGGCC | Louise Daugherty commented on STR: C9orf72_GGGGCC: 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 reported as part of the current diagnostic practice. Comment: Onset in adulthood, rapidly progressive | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.75 | C9orf72_GGGGCC | Louise Daugherty Source Yorkshire and North East GLH was added to STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.59 | C9orf72_GGGGCC | Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.59 | C9orf72_GGGGCC | Louise Daugherty commented on STR: C9orf72_GGGGCC: Green rating inferred from review comment on the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.59 | C9orf72_GGGGCC | Louise Daugherty Source NHS GMS was added to STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.58 | C9orf72_GGGGCC | Louise Daugherty Source South West GLH was added to STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.57 | C9orf72_GGGGCC | Louise Daugherty Source London North GLH was added to STR: C9orf72_GGGGCC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.13 | C9orf72_GGGGCC | Louise Daugherty edited their review of STR: C9orf72_GGGGCC: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.56 | C9orf72_GGGGCC | Louise Daugherty Classified STR: C9orf72_GGGGCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.56 | C9orf72_GGGGCC | Louise Daugherty Str: c9orf72_ggggcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.55 | C9orf72_GGGGCC |
Louise Daugherty STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: C9orf72_GGGGCC. Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 Review for STR: C9orf72_GGGGCC 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, Amyotrophic lateral sclerosis/motor neuron disease v1.26 Sources: Expert list |
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