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Neurodegenerative disorders, adult onset v4.32 ATN1_CAG Eleanor Williams commented on STR: ATN1_CAG
Neurodegenerative disorders, adult onset v4.32 ATN1_CAG Eleanor Williams Classified STR: ATN1_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v4.32 ATN1_CAG Eleanor Williams Str: atn1_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v4.31 ATN1_CAG Eleanor Williams Tag watchlist was removed from STR: ATN1_CAG.
Tag Q3_23_promote_green was removed from STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v4.28 ATN1_CAG Sarah Leigh Tag Q3_23_promote_green tag was added to STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v4.28 ATN1_CAG Sarah Leigh reviewed STR: ATN1_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Neurodegenerative disorders, adult onset v2.267 ATN1_CAG Ivone Leong commented on STR: ATN1_CAG
Neurodegenerative disorders, adult onset v2.264 ATN1_CAG Arina Puzriakova Normal Number of Repeats for ATN1_CAG was changed from 35 to 36.
Neurodegenerative disorders, adult onset v2.204 ATN1_CAG Arina Puzriakova Tag watchlist tag was added to STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v2.204 ATN1_CAG Arina Puzriakova Phenotypes for STR: ATN1_CAG were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Neurodegenerative disorders, adult onset v2.203 ATN1 Arina Puzriakova Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Neurodegenerative disorders, adult onset v2.202 ATN1 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Nucleotide repeat expansion; to: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Neurodegenerative disorders, adult onset v2.202 ATN1 Arina Puzriakova Added comment: Comment on mode of inheritance: Nucleotide repeat expansion
Neurodegenerative disorders, adult onset v2.202 ATN1 Arina Puzriakova Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Neurodegenerative disorders, adult onset v2.38 ATN1_CAG Arina Puzriakova Tag for-review was removed from STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v2.38 ATN1_CAG Arina Puzriakova Tag for-review tag was added to STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v2.18 ATN1_CAG Arina Puzriakova Classified STR: ATN1_CAG as Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v2.18 ATN1_CAG Arina Puzriakova Str: atn1_cag has been classified as Amber List (Moderate Evidence).
Neurodegenerative disorders, adult onset v1.106 ATN1 Louise Daugherty edited their review of gene: ATN1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Neurodegenerative disorders, adult onset v1.75 ATN1_CAG Louise Daugherty commented on STR: ATN1_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 ATN1_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v1.74 ATN1 Louise Daugherty commented on gene: ATN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Neurodegenerative disorders, adult onset v1.72 ATN1 Nick Beauchamp reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.67 ATN1 Louise Daugherty Source Yorkshire and North East GLH was added to ATN1.
Neurodegenerative disorders, adult onset v1.59 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: 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.
Neurodegenerative disorders, adult onset v1.59 ATN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v1.58 ATN1_CAG Louise Daugherty Source South West GLH was added to STR: ATN1_CAG.
Neurodegenerative disorders, adult onset v1.57 ATN1_CAG Louise Daugherty Source London North GLH was added to STR: ATN1_CAG.
Publications for STR: ATN1_CAG were changed from 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 to 20301664; 8136826; 8136840; 7614090
Neurodegenerative disorders, adult onset v1.13 ATN1_CAG Louise Daugherty edited their review of STR: ATN1_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and 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 v1.7 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.6 ATN1 Anthony Dallosso reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.5 ATN1 Louise Daugherty Source NHS GMS was added to ATN1.
Neurodegenerative disorders, adult onset v1.4 ATN1 Louise Daugherty Source South West GLH was added to ATN1.
Neurodegenerative disorders, adult onset v0.77 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Neurodegenerative disorders, adult onset v0.77 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Neurodegenerative disorders, adult onset v0.76 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Brain channelopathy v1.48, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Neurodegenerative disorders, adult onset v0.2 ATN1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATN1.
Neurodegenerative disorders, adult onset v0.2 ATN1 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: ATN1.
Neurodegenerative disorders, adult onset v0.2 ATN1 Rebecca Foulger Added phenotypes Dentatorubro-pallidoluysian atrophy 125370 for gene: ATN1
Neurodegenerative disorders, adult onset v0.2 ATN1 Rebecca Foulger gene: ATN1 was added
gene: ATN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370