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Neurodegenerative disorders - adult onset v1.75 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: 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.
Neurodegenerative disorders - adult onset v1.75 HTT_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: HTT_CAG.
Neurodegenerative disorders - adult onset v1.59 HTT_CAG Louise Daugherty Source NHS GMS was added to STR: HTT_CAG.
Neurodegenerative disorders - adult onset v1.57 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Neurodegenerative disorders - adult onset v1.13 HTT_CAG Louise Daugherty edited their review of STR: HTT_CAG: 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
Neurodegenerative disorders - adult onset v0.60 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Neurodegenerative disorders - adult onset v0.60 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.60 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Neurodegenerative disorders - adult onset v0.60 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders - adult onset v0.59 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list