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Neurodegenerative disorders, adult onset v2.267 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Neurodegenerative disorders, adult onset v2.267 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v2.267 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v2.264 HTT_CAG Arina Puzriakova Normal Number of Repeats for HTT_CAG was changed from 40 to 36.
Source Expert Review Removed was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to No List (delete)
Neurodegenerative disorders, adult onset v2.261 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v2.261 HTT_CAG Arina Puzriakova Str: htt_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v2.260 HTT_CAG Arina Puzriakova Tag for-review was removed from STR: HTT_CAG.
Tag curated_removed was removed from STR: HTT_CAG.
Neurodegenerative disorders, adult onset v2.260 HTT_CAG Arina Puzriakova edited their review of STR: HTT_CAG: Changed rating: GREEN
Neurodegenerative disorders, adult onset v2.260 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: After NHS Genomic Medicine Service consideration, this STR has been promoted back to green on the R58 panel.
Neurodegenerative disorders, adult onset v2.233 HTT_CAG Arina Puzriakova Phenotypes for STR: HTT_CAG were changed from Huntington disease 143100 to Huntington disease, OMIM:143100
Neurodegenerative disorders, adult onset v2.39 HTT_CAG Arina Puzriakova Tag curated_removed tag was added to STR: HTT_CAG.
Neurodegenerative disorders, adult onset v2.38 HTT_CAG Arina Puzriakova commented on STR: HTT_CAG: Tagged 'for-review' to highlight the recent review by Helen Brittain (Genomics England Clinical Team) indicating that exclusion of this STR may increase risk of missed diagnoses. HTT_CAG was removed from this panel in October 2020 at request of the GMS Specialist Test Group.
Neurodegenerative disorders, adult onset v2.38 HTT_CAG Arina Puzriakova Tag for-review tag was added to STR: HTT_CAG.
Neurodegenerative disorders, adult onset v2.38 HTT_CAG Helen Brittain reviewed STR: HTT_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Huntington disease # 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Neurodegenerative disorders, adult onset v2.17 HTT_CAG Arina Puzriakova Classified STR: HTT_CAG as No list
Neurodegenerative disorders, adult onset v2.17 HTT_CAG Arina Puzriakova Added comment: Comment on list classification: This STR has been removed at the request of GHLs for the GMS Neurology Specialist Test Group as it is available as a core test for R68 Huntington Disease. Inclusion on panels for other neurological CIs raises concerns regarding counselling, and so it has been agreed that HTT_CAG will be excluded from this panel.
Neurodegenerative disorders, adult onset v2.17 HTT_CAG Arina Puzriakova Str: htt_cag has been removed from the panel.
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